Javascript DHTML Drop Down Menu Powered by dhtml-menu-builder.com  


Molecular Tests (Ordered by Disease)  

The molecular analysis includes analyses of all protein-coding sequences unless specified otherwise in the comment column.

Prices of the tests are in €, but can be converted to your local currency with the currency converter.

If you don't find the disease (or gene) of interest in the alphabetical list, you can search the whole table with the Ctrl-F function:

1. Hold the Ctrl key, then press the F key
2. Type in the disease (gene) of interest
3. If the disease (gene) can be found, it is highlightened in black in the table

Information on mutations and genomic structure of genes can be found by clicking on Mutation information.

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

#

Disease
Disease OMIM
Gene
Gene OMIM
Comment
 Price in Euro
11-@BETA-HYDROXYLASE DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY      
11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2   See CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY      
17-@ALPHA-HYDROXYLASE DEFICIENCY   See ADRENAL HYPERPLASIA, TYPE 5      
17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY   See ADRENAL HYPERPLASIA, TYPE 5      

17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY
» PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA
» POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY
» 17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS

 264300

HSD17B3 (17-@BETA HYDROXYSTEROID DEHYDROGENASE 3, ESTRADIOL 17-BETA-DEHYDROGENASE,EDH17B3)

 605573   1100
17-@KETOSTEROID REDUCTASE DEFICIENCY OF TESTIS   See 17-@BETA HYDROXYSTEROID DEHYDROGENASE 3 DEFICIENCY      
17q21.31 MICRODELETION SYNDROME . 

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   		 157140 Deletions 350
18-@HYDROXYLASE DEFICIENCY   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
21-ALPHA-HYDROXYLASE DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1      
22q11.2 DELETION SYNDROME . See DIGEORGE SYNDROME, DGS .    
2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA   See ALPHA-METHYLACETOACETIC ACIDURIA      

2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY

300438

HADH2 (HYDROXYACYL-CoA DEHYDROGENASE TYPE 2, AMYLOID BETA-BINDING POLYPEPTIDE, ERAB, 2-ALPHA-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE)

300256

   600
2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD		   See 2-ALPHA-METHYLBUTYRYLGLYCINURIA      

2-ALPHA-METHYLBUTYRYLGLYCINURIA
» 2-ALPHA-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY,
MBD

600301

ACADSB (ACYL-CoA DEHYDROGENASE, SHORT/BRANCHED CHAIN)

600301
 
 900
3-@BETA-HSD DEFICIENCY   See ADRENAL HYPERPLASIA, TYPE 2      
3-@BETA-HYDROXYSTEROID DEHYDROGENASE, DEFICIENCY OF, TYPE 2   See ADRENAL HYPERPLASIA, TYPE 2      
3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
» HADH DEFICIENCY
» SCHAD DEFICIENCY		 231530 HADH (3-@HYDROXYACYL-CoA DEHYDROGENASE, HADSC, SCHAD) 601609    650
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 1		 210200 MCCC1 (3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCA) 609010 MCCC1 or MCCC1 and MCCC2 1 Gene: 750
2 Genes: 1200
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 2		 210210 MCCC2 (3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCB)  609014 MCCC2 or MCCC1 and MCCC2 1 Gene: 650
2 Genes: 1200

3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE I
» 3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY
» 3-ALPHA-MG-CoA-HYDRATASE DEFICIENCY
» MGA, TYPE 1

250950

AUH (AU-SPECIFIC RNA-BINDING PROTEIN, 3-ALPHA-METHYLGLUTACONYL -CoA HYDRATASE)

600529

.

 850
3-@METHYLGLUTACONIC ACIDURIA, TYPE 3   See OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL RECESSIVE)      
3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY   See 3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1      
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE 612965 NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; STEROIDOGENIC FACTOR 1; SF1) 184757   800
5-PRIME-DEIODINASE DEFICIENCY, GENERALIZED, CAUSING EUTHYROID HYPERTHYROXINEMIA   See HYPERTHYROXINEMIA DUE TO DECREASED PERIPHERAL CONVERSION OF T4      
  

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

A

Disease
Disease OMIM
Gene
Gene OMIM
Comment
 Price in Euro
AADC DEFICIENCY   See AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY      

AARSKOG SYNDROME
» FACIODIGITOGENITAL SYNDROME
FGD1
 
 1100
AASA DEHYDROGENASE DEFICIENCY   See EPILEPSY, PYRIDOXINE-DEPENDENT, EPD      
ABCD SYNDROME
» ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS		 600501 EDNRB (ENDOTHELIN RECEPTOR, TYPE B) 131244   400
ABETALIPOPROTEINEMIA
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
» MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
» MTP DEFICIENCY
 200100 MTP 157147 .  1670
ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE   See HYPOBETALIPOPROTEINEMIA, FAMILIAL      
AB VARIANT GM2-GANGLIOSIDOSIS   See TAY-SACHS DISEASE, AB VARIANT      
ACAD8 DEFICIENCY .  See ISOBUTYRYL GLYCINURIA      
ACAD9 DEFICIENCY
» ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF		 611126 ACAD9 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9) 611103   2300
ACAMPOMELIC CAMPOMELIC DYSPLASIA . See CAMPOMELIC DYSPLASIA      
ACANTHOCYTOSIS
.
 See HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE      
See ABETALIPOPROTEINEMIA      
ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA . See HYPOBETALIPOPROTEINEMIA, FAMILIAL      
ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY		 115500 CAT (CATALASE) 115500   1500
ACATALASIA   See ACATALASEMIA      
ACERULOPLASMINEMIA
» HYPOCERULOPLASMINEMIA
» CERULOPLASMIN DEFICIENCY
» HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA		 604290 CP (CERULOPLASMIN; FERROXIDASE) 117700   1200
ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C      

ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA
» TRIPLE-A SYNDROME
» ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER
» GLUCOCORTICOID DEFICIENCY AND ACHALASIA
» ALLGROVE SYNDROME
» ADDISONIAN-ACHALASIA SYNDROME
» HYPOADRENALISM WITH ACHALASIA
» ALACRIMA-ACHALASIA-ADDISONIANISM
» ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA
» ACHALASIA-ALACRIMA SYNDROME

231550

AAAS (ALADIN, ADRACALIN)

 605378   1650
ACHALASIA-ALACRIMA SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ACHONDROGENESIS, BRAZILIAN TYPE
.
 
 
  
ACHONDROGENESIS, FRACCARO TYPE    See ACHONDROGENESIS TYPE 1B      
ACHONDROGENESIS TYPE 1B
» ACHONDROGENESIS, FRACCARO TYPE 		 600972 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600
ACHONDROGENESIS, TYPE 2
COL2A1
 
 1250
ACHONDROPLASIA
FGFR3
2 Mutations:
G380R, G375C
 350
ACHROMATOPSIA, INCOMPLETE (X-LINKED)   See CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1      
ACHROMATOPSIA, TYPE 2
» COLORBLINDNESS, TOTAL
» ROD MONOCHROMATISM, TYPE 2		 216900 CNGA3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, ALPHA-3; CONE PHOTORECEPTOR cGMP-GATED CHANNEL; CYCLIC NUCLEOTIDE-GATED CHANNEL, OLFACTORY, 3; CNG3) 600053   500
ACHROMATOPSIA, TYPE 3 262300 CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) 605080   700
ACHROMATOPSIA, TYPE 4 613856 GNAT2 (GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-TRANSDUCING ACTIVITY POLYPEPTIDE 2; G PROTEIN, ALPHA-TRANSDUCING 2; TRANSDUCIN, CONE-SPECIFIC, ALPHA POLYPEPTIDE) 139340   500
ACHROMATOPSIA, TYPE 5
» CONE DYSTROPHY, TYPE 4		 613093 PDE6C (PHOSPHODIESTERASE 6C, cGMP-SPECIFIC, CONE, ALPHA-PRIME; PDEA2) 600827   700
ACID ALPHA-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2      
ACID MALTASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2      
ACOUSTIC NEURINOMA . See NEUROFIBROMATOSIS TYPE 2, NF2 .    
ACOUSTIC SCHWANNOMAS, BILATERAL . See NEUROFIBROMATOSIS TYPE 2, NF2 .    

ACROCALLOSAL SYNDROME
» SCHINZEL ACROCALLOSAL SYNDROME

200990

 GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) 165240  Whole Gene or Deletions Whole Gene: 1700
Deletions: 350

ACROCAPITOFEMORAL DYSPLASIA, ACFD

607778

IHH (INDIAN HEDGEHOG)

600726

.

 450

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
» ADULT SYNDROME
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE		 101900 ATP2A2 (ATP2B, SERCA2) 108740   2000
ACROMEGALY DUE TO PITUITARY ADENOMA   See PITUITARY ADENOMA, GROWTH HORMONE-SECRETING      
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)
 
 900
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
» ST. HELENA DYSPLASIA		 602875 NPR2 (NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B, ANPRB) 108961   250
ACROOSTEOLYSIS, NEUROGENIC   See NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2, HSAN2      
ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE   See HAJDU-CHENEY SYNDROME      
ACRORENOOCULAR SYNDROME   See DUANE-RADIAL RAY SYNDROME      
ACTH DEFICIENCY 201400

TBX19 (T-BOX 19, T-BOX FACTOR, PITUITARY)

 604614   1150
ACTH RESISTANCE   See GLUCOCORTICOID DEFICIENCY 1      
ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ACTIN MYOPATHY
ACTA1 (ACTIN)
 
 500
ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF   See ACAD9 DEFICIENCY      
ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY 201475

ACADVL (ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, VLCAD)

609575  . 600
ADCA
.
 
 
  

ADDISON DISEASE (X-LINKED)
» ADRENAL HYPOPLASIA, CONGENITAL
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM
DAX1  (NROB1)
 
 260
ADDISONIAN-ACHALASIA SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME   See EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE      
ADDUCTED THUMB-CLUBFOOT SYNDROME   See EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE      
ADENOCARCINOMA OF LUNG, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   480
ADENOMATOUS POLYPOSIS COLI
.
 
 
  
ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM		 103050 ADSL (ADENYLOSUCCINATE LYASE) 103050   1150
ADHALINOPATHY, PRIMARY . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . . .
ADRENAL HYPOPLASIA, CONGENITAL
.
 
 
  
ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY		   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY      

ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1
» 21-ALPHA-HYDROXYLASE DEFICIENCY
» CYP21 DEFICIENCY

201910

 CYP21A2 201910

Whole Gene and Deletions-Duplications

 900
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY		 202010 CYP11B1 (CYTOCHROME P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE, P450C11) 610613  Whole Gene or CYP11B1/
CYP11B2 fusion		 Whole Gene: 650
Fusion: 300
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA 4
STEROID 11-BETA-HYDROXYLASE DEFICIENCY
» 11-@BETA-HYDROXYLASE DEFICIENCY
» ADRENAL HYPERPLASIA, HYPERTENSIVE FORM
» P450C11B1 DEFICIENCY		 202010 CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)		 124080    700
ADRENAL HYPERPLASIA, HYPERTENSIVE FORM   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY      
ADRENAL HYPERPLASIA, TYPE 2
» 3-@BETA-HYDROXYSTEROID DEHYDROGENASE, DEFICIENCY OF, TYPE 2
» 3-@BETA-HSD DEFICIENCY		 201810 HSD3B2 (3-@BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-ISOMERASE, TYPE 2) 201810   550
ADRENAL HYPERPLASIA, TYPE 5
» 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY
» 17-@ALPHA-HYDROXYLASE DEFICIENCY		 202110 CYP17A1 (CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; STEROID 17-ALPHA-MONOOXYGENASE) 609300   850
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL 118485 CYP11A1 (CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1;CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME;CYTOCHROME P450SCC 118485   1100
ADRENAL UNRESPONSIVENESS TO ACTH   See GLUCOCORTICOID DEFICIENCY 1      
ADRENOCORTICAL INSUFFICIENCY   NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; STEROIDOGENIC FACTOR 1; SF1) 184757   800
ADRENOLEUKODYSTROPHY, ALD 300100 ABCD1 300371   800
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM, NALD 202370 PEX1, PEX6, PEX10, PEX12 and PEX26   PEX1 (exons 13, 15, 18), PEX6 (Exon 1), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3) 700
PEX2, PEX10, PEX12 and PEX26    PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3) 1300
PEX6, PEX10, PEX12 and PEX26   Whole Gene Sequencing 1700

PEX1 (PEROXISOME BIOGENESIS FACTOR 1)

 602136 Whole Gene Sequencing or Exons 13, 15, 18, 19 Whole Gene: 1000
Exons: 500
ADRENOMYELONEUROPATHY, AMN   See ADRENOLEUKODYSTROPHY, ALD      
ADULT LACTASE DEFICIENCY   See LACTOSE INTOLERANCE      
ADULT SYNDROME
.
 
 
  

AFIBRINOGENEMIA
» DYSFIBRINOGENEMIA
» HYPODYSFIBRINOGENEMIA, CONGENITAL
FGA (FIBRINOGEN ALPHA)
 
 550
FGB (FIBRINOGEN BETA)
 
 700
FGG (FIBRINOGEN GAMMA)
 
 900
AGAMMAGLOBULINEMIA, NON-BRUTON TYPE (AUTOSOMAL RECESSIVE)

601495

 IGHM (IMMUNOGLOBULIN MU) 147020    800

AGAMMAGLOBULINEMIA (X-LINKED), XLA
» BRUTON AGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA (X-LINKED)
BTK (BRUTON TYROSINE KINASE, ATK, BPK)
 
 550
AGRANULOCYTOSIS, INFANTILE   See NEUTROPENIA, SEVERE CONGENITAL, TYPE 3 (AUTOSOMAL RECESSIVE)      

AICARDI-GOUTIERES SYNDROME 1
» ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
» CREE ENCEPHALITIS
» PSEUDO-TORCH SYNDROME
» PSEUDOTOXOPLASMOSIS SYNDROME

 225750

TREX1 (3-PRIME @REPAIR EXONUCLEASE 1, ATRIP)

 606605   400
AICARDI-GOUTIERES SYNDROME 2 610181 RNASEH2B (RIBONUCLEASE H2, SUBUNIT B) 610326   500
AICARDI-GOUTIERES SYNDROME 3 610329 RNASEH2C (RIBONUCLEASE H2, SUBUNIT C) 610330   450
AICARDI-GOUTIERES SYNDROME 4 610333 RNASEH2A (RIBONUCLEASE H2, LARGE SUBUNIT) 606034   500
AICARDI-GOUTIERES SYNDROME, TYPE 5, AGS5 612952 SAMHD1 (SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; DENDRITIC CELL-DERIVED IFNG-INDUCED PROTEIN; DCIP) 606754   650
AICARDI-GOUTIERES, TYPE 1-5   AICARDI-GOUTIERES PANEL   5 Genes: AGS1-5 1500
ALACRIMA-ACHALASIA-ADDISONIANISM   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ALACRIMA-ACHALASIA-ADRENAL INSUFFICIENCY NEUROLOGIC DISORDER   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ALAGILLE SYNDROME
JAG1 (JAGGED1)
 Whole Gene Sequencing and MLPA 1300
ALAGILLE SYNDROME, TYPE 2 610205 NOTCH2 (NOTCH, DROSOPHILA, HOMOLOG OF, 2) 600275   1090
ALAND ISLAND EYE DISEASE
» FORSIUS-ERIKSSON TYPE OCULAR ALBINISM		 300600 CACNA1F (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT) 300110   900
ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 1      
AL-AWADI/RAAS-ROTHSCHILD SYNDROME   See ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY      
ALBERS-SCHONBERG DISEASE (AUTOSOMAL DOMINANT)   See OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2      
ALBERS-SCHONBERG DISEASE (AUTOSOMAL RECESSIVE) . See OSTEOPETROSIS (AUTOSOMAL RECESSIVE) .    
ALBINISM

ALBINISM PANEL:
- TYR (OCA1)
- P (OCA2)
- TYRP1 (OCA3)
- MATP (OCA4)
- GPR143 (OA1)

 .
606933
203200
203290
606574
300500		 Whole Gene Sequencing of 5 Genes 1700
ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS   ABCD SYNDROME      

ALBINISM, OCULAR, TYPE 1, OA1
» NETTLESHIP-FALLS TYPE OCULAR ALBINISM

  300500 GPR143 (OA1)

300500 

   400
ALBINISM, RUFOUS OCULOCUTANEOUS, ROCA 278400 TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE B) 115501   400
ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)      
ALBRIGHT HEREDITARY OSTEODYSTROPHY
» PSEUDOHYPOPARATHYROIDISM, TYPE 1A
» PSEUDOHYPOPARATHYROIDISM, TYPE 1C
» PSEUDOPSEUDOHYPOPARATHYROIDISM		 103580 GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) 139320   790
ALBRIGHT SYNDROME . See MCCUNE-ALBRIGHT SYNDROME .    
ALDOLASE B DEFICIENCY   See FRUCTOSE INTOLERANCE      
ALDOSTERONE DEFICIENCY 1   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
ALEXANDER DISEASE 203450

GFAP (GLIAL FIBRILLARY ACIDIC PROTEIN)

137780   650
ALKYLDIHYDROXYACETONEPHOSPHATE SYNTHASE DEFICIENCY   See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, RCDP3      
ALLAN-HERNDON-DUDLEY SYNDROME
» MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY
» MENTAL RETARDATION WITH HYPOTONIA (X-LINKED)		 300523 SLC16A2 (SOLUTE CARRIER FAMILY 16, MEMBER 2; MONOCARBOXYLATE TRANSPORTER 8; MCT8) 300095   750
ALLGROVE SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
ALOPECIA UNIVERSALIS CONGENITA
» ATRICHIA, GENERALIZED		 203655 HR (HAIRLESS, MOUSE, HOMOLOG OF) 602302   1800
ALPHA-1,4-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2      
ALPHA HAEMOGLOBINOPATHIA
» ALPHA THALASSEMIA
 141800 HBA 1 and HBA 2 (ALPHA GLOBIN)
 141800 Whole Gene (both HBA1 and HBA2) or Deletion Analysis (MLPA) Whole Gene: 400
Deletion Analysis: 300
ALPHA-L-FUCOSIDASE DEFICIENCY   See FUCOSIDOSIS      
ALPHA MANNOSIDOSIS 248500 MAN2B1 (MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MANB) 609458   2000
ALPHA-METHYLACETOACETIC ACIDURIA
» BETA-KETOTHIOLASE DEFICIENCY
» MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
» 2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA		 254210 ACAT1 (ACETYL-CoA ACETYLTRANSFERASE 1; ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL) 607809   1400
ALPHA THALASSEMIA
 . See ALPHA HAEMOGLOBINOPATHIA . . .
ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)
» ATR-X SYNDROME
» XLMR-HYPOTONIC FACE SYNDROME
» MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
 301040 ATRX (XNP) 300032 Blood in RNA PAX tubes 1500

ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS
» ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY
» ALPERS SYNDROME
» ALPERS-HUTTENLOCHER SYNDROME
» NEURONAL DEGENERATION OF CHILDHOOD WITH LIVER DISEASE, PROGRESSIVE

 203700 POLG (POLYMERASE, DNA, GAMMA) 174763 . 1200
ALPERS-HUTTENLOCHER SYNDROME   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS      
ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS      
ALPERS SYNDROME   See ALPERS DIFFUSE DEGENERATION OF CEREBRAL GRAY MATTER WITH HEPATIC CIRRHOSIS      
See PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL RECESSIVE)      
ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 COL4A3  120070  .   1550
COL4A4  120131 .   1550
ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS   See ALPORT SYNDROME (X-LINKED)      
ALPORT SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS

301050

 COL4A5 303630 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 1550
Deletion-Duplication: 500
ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA   See FECHTNER SYNDROME      
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA   See EPSTEIN SYNDROME      
ALSTROM SYNDROME, ALMS 203800 ALMS1 606844  Whole Gene Whole Gene: 900
ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1
APP

Whole Gene, Deletion-Duplication or Exons 16 and 17 harbouring the majority of mutations

 Whole Gene: 700
Deletion-Duplication: 600
Exons 16 and 17: 400

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3

607822

PSEN1 (PRESENILIN 1, PS1)

104311

   400

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4

606889

PSEN2 (PRESENILIN 2, PS2)

600759

   400
AMAUROSIS CONGENITA OF LEBER 3   See LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3      
AMYLO-1,6-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 3      

AMYLOID POLYNEUROPATHY
» AMYLOIDOSIS, TYPE 1
TTR  (TRANSTHYRETIN)
   400
AMYLOIDOSIS, TYPE 1        
AMYLOIDOSIS, TYPE 6   See CEREBRAL AMYLOID ANGIOPATHY      
AMYLOIDOSIS, TYPE 8   See AMYLOIDOSIS, FAMILIAL VISCERAL      
AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY .. See CEREBRAL AMYLOID ANGIOPATHY      
AMYLOIDOSIS, CEREBROARTERIAL
.
      
AMYLOIDOSIS, FAMILIAL RENAL   See AMYLOIDOSIS, FAMILIAL VISCERAL      
AMYLOIDOSIS, FAMILIAL VISCERAL
» AMYLOIDOSIS, TYPE 8
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL		 105200 FGA  (FIBRINOGEN ALPHA) 134820   550
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, ALS4
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES		 602433 SETX (SENATAXIN) 608465   1000
AMYOTROPHIC LATERAL SCLEROSIS   SOD1,
TARDBP,
ANG,
ALS6		   Panel of 4 Genes 1000

AMYOTROPHIC LATERAL SCLEROSIS, ALS
» LOU GEHRIG'S DISEASE

 SOD1 (SUPEROXIDE DISMUTASE 1)
 
 550
AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1   See GUAM DISEASE      
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 105400

ANG (ANGIOGENIN, RNASE5)

 105850   450
DCTN1 (DYNACTIN 1) 105400   2200
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 6, ALS6 608030 FUS (FUSION, DERIVED FROM 12-16 TRANSLOCATION, MALIGNANT LIPOSARCOMA 137070   1000
AMYOTROPHIC LATERAL SCLEROSIS TYPE 8, ALS8 608627 VAPB (VESICLE-ASSOCIATED MEMBRANE PROTEIN-ASSOCIATED PROTEIN B; VAMP-ASSOCIATED PROTEIN) 605704   600
AMYOTROPHIC LATERAL SCLEROSIS TYPE 10, ALS10 612069 TARDBP (TAR DNA-BINDING PROTEIN) 605078   540
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 12, ALS12 613435 OPTN (OPTINEURIN) 602432   Upon Request
AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, ALS14 613954 VCP (VALOSIN-CONTAINING PROTEIN) 601023   1100
AMYOTROPHY, HEREDITARY NEURALGIC
» BRACHIAL PLEXUS NEUROPATHY, HEREDITARY		 162100 SEPT9 (SEPTIN 9) 604061   1150

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
» ANDERSEN SYNDROME LONG QT SYNDROME 7, LQT7
» PERIODIC PARALYSIS, POTASSIUM-SENSITIVE CARDIODYSRHYTHMIC TYPE
» ANDERSEN-TAWIL SYNDROME

 170390 KCNJ2 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 2, KIR2.1) 600681   800
ANDERSEN SYNDROME
LONG QT SYNDROME 7, LQT7		   See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS      
ANDERSEN-TAWIL SYNDROME   See ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS      
ANDROGEN INSENSITIVITY SYNDROME, AIS
AR (ANDROGEN RECEPTOR)
 Whole Gene 495
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1		 224120 CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
 607465    1300
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 301310

ABCB7 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 7, ABC TRANSPORTER 7)

 300135 . 1200
ANEMIA, SIDEROBLASTIC (X-LINKED)
» ANEMIA, HYPOCHROMIC
» HEREDITARY IRON-LOADING ANEMIA		 300751 ALAS2 (DELTA-AMINOLEVULINATE SYNTHASE 2; ALASE) 301300   300
ANEURYSMS-OSTEOARTHRITIS SYNDROME, AOS   See LOEYS-DIETZ SYNDROME, TYPE 1C      
ANGELMAN-LIKE SYNDROME (X-LINKED)   See MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE      
ANGELMAN SYNDROME, AS
UBE3A
Whole Gene or
IC Deletion or
Methylation
 Whole Gene: 990
IC Deletion: 450 Methylation: 350
ANGELMAN SYNDROME, ATYPICAL 105830 CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)     1200

ANGIOEDEMA
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA 
C1NH (C1 ESTERASE INHIBITOR, SERPING 1)

Whole Gene Sequencing and Deletion-Duplication Testing

 1400
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HANAC 611773 COL4A1 120130 Whole Gene or Deletion-Duplication Whole Gene: 1400
Deletion-Duplication: 800

ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE 3
EDAR (ECTODYSPLASIN 1)
 
 900
EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) 606603   750
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE   See DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE      
ANIRIDIA, TYPE 2, AN2
PAX6 (PAIRED BOX GENE 6)

Whole Gene Sequencing or Deletion Analysis (MLPA)

 Whole Gene: 450
MLPA: 250

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE
» HAY-WELLS SYNDROME
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
ANOPHTHALMIA, ANOP3 206900 SOX2 (SRY-BOX 2)
 184429   600
ANOSMIC HYPOGONADISM   See KALLMANN SYNDROME, TYPE 1, KAL1      
ANTENATAL BARTTER SYNDROME, TYPE 2
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2
» HYPERPROSTAGLANDIN E SYNDROME, TYPE 2		 241200 KCNJ1 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 1, KIR1.1, ROMK1) 600359   375
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS   FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) 601090 Whole Gene Sequencing or Deletion-Duplication Whole Gene: 550
Deletion-Duplication: 500
ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3		 107300 AT3 (SERPINC1)

107300

 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 460
Deletion-Duplication: 350
ANTITRYPSINE DEFICIENCY, AAT 107400 SERPINA1 (SERPIN PEPTIDASE INHIBITOR, CLADE A, MEMBER 1, PROTEASE INHIBITOR 1, PI1, ALPHA-1-ANTITRYPSIN, AAT) 107400 Alleles M, S and Z 250
ANTOPOL DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES   See TOWNES-BROCKS SYNDROME      
AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS   See AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4      

AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 4
» AORTIC ANEURYSM/AORTIC DISSECTION AND PATENT DUCTUS ARTERIOSUS

 132900 MYH11 (MYOSIN, HEAVY CHAIN 11, SMOOTH MUSCLE, SMOOTH MUSCLE MYOSIN HEAVY CHAIN) 160745 Whole Gene or Deletions-Duplications Whole Gene: 1300
Deletions-Duplications: 500
AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 6 611788 ACTA2 (ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA) 102620   600
AORTIC VALVE DISEASE
» BICUSPID AORTIC VALVE
» LVOT		 109730 NOTCH1 (NOTCH, DROSOPHILA, HOMOLOG OF, 1) 190198   1090
AO TYPE 2   See ATELOSTEOGENESIS TYPE 2      
APERT SYNDROME
» CRANIOSYNOSTOSIS, APERT SYNDROME
FGFR2
2 Mutations: S252W, P253R
 350
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA      
APLASTIC ANEMIA
.
TERC (TELOMERASE RNA COMPONENT)
 
 400
APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE   See HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B      
APOLIPOPROTEIN B DEFICIENCY   See ABETALIPOPROTEINEMIA      
APOLIPOPROTEIN C2 DEFICIENCY   See HYPERCHYLOMICRONEMIA      
APOLIPOPROTEIN E DEFICIENCY   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      
APPARENT MINERALOCORTICOID EXCESS   See CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY      
APRT DEFICIENCY 102600 APRT (ADENINE PHOSPHORIBOSYLTRANSFERASE) 102600   400
ARGININOSUCCINASE DEFICIENCY   See ARGININOSUCCINIC ACIDURIA      
ARGININOSUCCINATE LYASE DEFICIENCY   See ARGININOSUCCINIC ACIDURIA      
ARGININOSUCCINATE SYNTHETASE DEFICIENCY   See CITRULLINEMIA, CLASSIC      
ARGININOSUCCINIC ACIDURIA
» ARGININOSUCCINASE DEFICIENCY
» ARGININOSUCCINATE LYASE DEFICIENCY
» ASL DEFICIENCY		 207900 ASL (ARGININOSUCCINATE LYASE, ARGININOSUCCINASE) 608310   1200

AROMATASE DEFICIENCY
» PSEUDOHERMAPHRODITISM, FEMALE, DUE TO PLACENTAL AROMATASE DEFICIENCY

107910

 CYP19A1 (AROMATASE) 107910   650
AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
» AADC DEFICIENCY
» DOPA DECARBOXYLASE DEFICIENCY		 608643 DDC (DOPA DECARBOXYLASE; AROMATIC L-AMINO ACID DECARBOXYLASE; AADC)

107930

   1110
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE2, ARVC2   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2, ARVD2      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE8, ARVC8   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 8, ARVD8      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 9, ARVC9   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9, ARVD9      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 10, ARVD10      
ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11, ARVC11   See ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11      
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL PKP2, DSP, DSG2, DSC2 PANEL     1600
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 2, ARVD2
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 2, ARVC2		 600996 RYR2 (RYANODINE RECEPTOR 2) 180902  29 Hot Spot Exons (Exons 3, 8, 14, 15, 37, 42, 44, 45, 46, 47, 49, 50, 83, 87, 88, 89, 90, 91, 93, 94, 95, 97, 99, 100, 101, 102, 103, 104 and 105) 800
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 8, ARVD8
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 8, ARVC8		 607450 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 9, ARVD9
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 9, ARVC 9

 609040

PKP2 (PLAKOPHILIN 2)

 602861 See also PKP2, DSP, DSG2, DSC2 PANEL 1100
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 10, ARVD10
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10		 610193 DSG2 (DESMOGLEIN 2) 125671 See also PKP2, DSP, DSG2, DSC2 PANEL 850
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11, ARVC11

610476

 DSC2 (DESMOCOLLIN 2, DESMOSOMAL GLYCOPROTEIN 2/3) 125645 See also PKP2, DSP, DSG2, DSC2 PANEL 900
ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY
» CORONARY SCLEROSIS, MEDIAL, OF INFANCY		 208000 ENPP1 (ECTONUCLEOTIDE PYROPHOSPHATASE / PHOSPHODIESTERASE 1;PHOSPHODIESTERASE I / NUCLEOTIDE PYROPHOSPHATASE 1; PDNP1; PLASMA CELL MEMBRANE GLYCOPROTEIN PC-1; PC1; NUCLEOTIDE PYROPHOSPHATASE) 173335   1100

ARTERIAL TORTUOSITY SYNDROME, ATS

 208050 SLC2A10 (SOLUTE CARRIER FAMILY 2 - FACILITATED GLUCOSE TRANSPORTER, MEMBER 10, GLUCOSE TRANSPORTER 10, GLUT10) 606145   800
ARTHRODENTOOSTEODYSPLASIA   See HAJDU-CHENEY SYNDROME      

ARTHROGRYPOSIS, DISTAL, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1

 108120

TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN)

 190990   850

ARTHROGRYPOSIS, DISTAL, TYPE 2A
» FREEMAN-SHELDON SYNDROME
» WHISTLING FACE-WINDMILL VANE HAND SYNDROME
» CRANIOCARPOTARSAL DYSTROPHY

 193700

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

 160720 Whole Gene or Exons 6, 9, 10, 12, 15, 16, 18, 21, 22, 34 Whole Gene: 2600
Exons: 1000

ARTHROGRYPOSIS, DISTAL, TYPE 2B
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B
» SHELDON-HALL SYNDROME
» FREEMAN-SHELDON SYNDROME VARIANT
» ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES

  601680

MYH3 (MYOSIN, HEAVY CHAIN 3, SKELETAL MUSCLE, EMBRYONIC)

 160720 Whole Gene or Exons 6, 9, 10, 12, 15, 16, 18, 21, 22, 34 Whole Gene: 2600
Exons: 1000

TNNI2 (TROPONIN 1, FAST-TWITCH SKELETAL MUSCLE ISOFORM)

 191043   500

TNNT3 (TROPONIN T3, FAST SKELETAL)

 600692   1250
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1   See ARTHROGRYPOSIS, DISTAL, TYPE 1      
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2, WITH CRANIOFACIAL ABNORMALITIES   See ARTHROGRYPOSIS, DISTAL, TYPE 2B      
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B   See ARTHROGRYPOSIS, DISTAL, TYPE 2B      
ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA   See FETAL AKINESIA DEFORMATION SEQUENCE      
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL (X-LINKED)   See SPINAL MUSCULAR ATROPHY (X-LINKED), TYPE 2, SMAX2      
ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ARC SYNDROME 208085 VPS33B (VACUOLAR PROTEIN SORTING 33, YEAST, HOMOLOG OF, B) 608552   800

ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD
» SPONDYLOEPIPHYSEAL DYSPLASIA TARDA WITH PROGRESSIVE ARTHROPATHY
»  PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA

 208230

WISP3 (WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3)

 603400   400
ARYLSULFATASE A DEFICIENCY   See METACHROMATIC LEUKODYSTROPHY      
ARYLSULFATASE B DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6      
ASL DEFICIENCY   See ARGININOSUCCINIC ACIDURIA      
ASPARTOACYLASE DEFICIENCY   See CANAVAN DISEASE      
ASPERGER SYNDROME (X-LINKED) 300494 NLGN3 (NEUROLIGIN 3) 300336 . 880
NLGN4 (NEUROLIGIN 4) . . 950
NLGN3 AND NLGN4 . . 1600
ASPHYXIATING THORACIC DYSTROPHY, TYPE 3 613091 DYNC2H1 (DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DNCH2; DHC2) 603297   2400
ASTHMA

 

 FLG (FILAGGRIN, PROFILAGGRIN)
 135940  7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X or
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X )		 7 Mutations: 800
2 Mutations: 250
ASYMMETRIC SEPTAL HYPERTROPHY   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL      
ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA AND RETINITIS PIGMENTOSA WITH ISOLATED VITAMIN E DEFICIENCY   TTPA (TOCOPHEROL TRANSFER PROTEIN, ALPHA, TTP1) 600415   600
ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA
» ATAXIA-OCULOMOTOR APRAXIA SYNDROME
» ATAXIA-OCULOMOTOR APRAXIA 1
» ATAXIA-TELANGIECTASIA-LIKE SYNDROME
» CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA
» ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA		 208920 APTX (APRATAXIN)
 606350    650
ATAXIA, EPISODIC, WITH MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1      
ATAXIA, EPISODIC, WITH NYSTAGMUS   See EPISODIC ATAXIA, TYPE 2, EA2      
ATAXIA, FRIEDREICH
.
 
 
  
ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM   See PYRUVATE DECARBOXYLASE DEFICIENCY      
ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE, OR DECARBOXYLASE, DEFICIENCY   See PYRUVATE DECARBOXYLASE DEFICIENCY      
ATAXIA-OCULOMOTOR APRAXIA 1   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA-OCULOMOTOR APRAXIA 2   See SPINOCEREBELLAR ATAXIA (AUTOSOMAL RECESSIVE), 1      
ATAXIA-OCULOMOTOR APRAXIA SYNDROME   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA, SPINOCEREBELLAR
.
 
 
  

ATAXIA-TELANGIECTASIA, AT
» LOUIS-BAR SYNDROME

208900

ATM

607585

See Next Generation Sequencing Panel: CANCER

  
ATAXIA-TELANGIECTASIA-LIKE DISORDER  604391 MRE11A (MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A, MRE11) 600814   800
ATAXIA-TELANGIECTASIA-LIKE SYNDROME   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
ATAXIA WITH LACTIC ACIDOSIS I
LACTIC ACIDEMIA, THIAMINE-RESPONSIVE		   See PYRUVATE DECARBOXYLASE DEFICIENCY      
ATELIOTIC DWARFISM WITH HYPOGONADISM   See PITUITARY DWARFISM 3      
ATELOSTEOGENESIS, TYPE 1
» GIANT CELL CHONDRODYSPLASIA
» SPONDYLOHUMEROFEMORAL HYPOPLASIA		 108720 FLNB (FILAMIN B) 663381   1900
ATELOSTEOGENESIS, TYPE 2
» AO TYPE 2
» DE LA CHAPELLE DYSPLASIA
»  NEONATAL OSSEOUS DYSPLASIA 1		 256050 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600
ATELOSTEOGENESIS, TYPE 3 108721 FLNB (FILAMIN B) 663381   1900
ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME
» BOSLEY-SALIH-ALORAINY SYNDROME		 601536 HOXA1 (HOMEOBOX A1; HOMEOBOX 1F; HOX1F) 142955 Exon 1 300
ATOPIC DERMATITIS

 

 FLG (FILAGGRIN, PROFILAGGRIN)
 135940  7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X or
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X )		 7 Mutations: 800
2 Mutations: 250
ATRIAL SEPTAL DEFECT, TYPE 2 607941 GATA4 (GATA-BINDING PROTEIN 4) 600576   1250
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

 600584   450
ATRICHIA, GENERALIZED   See ALOPECIA UNIVERSALIS CONGENITA      
ATRICHIA WITH PAPULAR LESIONS
» PAPULAR ATRICHIA		 209500 HR (HAIRLESS, MOUSE, HOMOLOG OF) 602302   1800
ATRIOVENTRICULAR BLOCK, IDIOPATHIC SECOND-DEGREE . 

NKX2E (NK2, DROSOPHILA, HOMOLOG OF, E, NKX2.5, CSX)

 600584   450
ATROPHIA BULBORUM HEREDITARIA   See NORRIE DISEASE      
ATR-X SYNDROME   See ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)      
ATTENUATED POLYPOSIS COLI
.
 
 
  

ATYPICAL MYCOBACTERIOSIS, FAMILIAL
» BCG AND SALMONELLA INFECTION, DISSEMINATED

  209950

IFNGR1 and IFNGR2

     1200

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

 		 107470   800

IFNGR2 (INTERFERON, GAMMA, RECEPTOR 2)

147569   800
AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1   See DEAFNESS, DFNB9      
AUTISM (X-LINKED)
 300425 NLGN3 (NEUROLIGIN 3)
 300336 . 880
NLGN4 (NEUROLIGIN 4) . . 950
NLGN3 AND NLGN4 . . 1600

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B
» CANALE-SMITH SYNDROME

  601859 CASP8 (CASPASE 8, FLICE, MCH5) 601763   1290

TNFRSF6 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 6, APT1, FAS)

134637 Whole Gene Sequencing 1150
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 603909 CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) 601762   890
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 4, ALPS4  164790 NRAS (NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG) 164790   750
AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1      
AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1
» AUTOIMMUNE POLYENDOCRINOPATHY-CANDIDIASIS-ECTODERMAL DYSTROPHY, APECED
» AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1
» HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS
» POLYGLANDULAR DEFICIENCY SYNDROME, PERSIAN-JEWISH TYPE		 240300 AIRE (AUTOIMMUNE REGULATOR) 607358

Whole Gene

800
AUTOIMMUNE POLYGLANDULAR SYNDROME, TYPE 1   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1      
AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO   See GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)      
AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
AUTONOMIC CONTROL, CONGENITAL FAILURE OF   See CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL      
AUTOSOMAL RECESSIVE
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 1A / 1B		   See PITUITARY DWARFISM 1      
AXENFELD-RIEGER SYNDROME   See RIEGER SYNDROME, TYPE 1, RIEG1      
AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS
» AZOOSPERMIA WITH MATURATION ARREST		 270960 SYCP3 (SYNAPTONEMAL COMPLEX PROTEIN 3)     700
AZOOSPERMIA WITH MATURATION ARREST   See AZOOSPERMIA DUE TO PERTURBATIONS OF MEIOSIS      

AZOSPERMIA-OLIGOSPERMIA
» SERTOLI-CELL-ONLY SYNDROME
» MALE INFERTILITY
AZFa, AZFb and AZFc (including DAZ)
Deletions
 250
  

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

B

Disease Disease OMIM Gene Gene OMIM

Comment

 Price in Euro

BALLER-GEROLD SYNDROME
» CRANIOSYNOSTOSIS WITH RADIAL DEFECTS
» CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME

 218600 RECQL4 (RECQ PROTEIN-LIKE 4, DNA HELICASE, RECQ-LIKE, TYPE 4 ) 603780   1600

BAMFORTH-LAZARUS SYNDROME
» HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE

 241850

FOXE1 (FORKHEAD BOX E1, THYROID TRANSCRIPTION FACTOR 2, TTF2, TITF2)

 602617   600
BANNAYAN-MYHRE-RILEY-RUVALCAVA-SMITH-ZONANA SYNDROME 153480 PTEN 601728

Whole Gene and Deletions-Duplications

 1600
BARAKAT SYNDROME
» HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
» HDR SYNDROME
» NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM		 146255 GATA3 (GATA-BINDING PROTEIN 3) 131320   450
BARDET-BIEDL SYNDROME, BBS 209900 ARL6 (ADP-RIBOSYLATION FACTOR-LIKE 6; BBS3 GENE) 608845   600
BARDET-BIEDL SYNDROME TYPE 1, BBS1 209900 BBS1 209901    900
BARDET-BIEDL SYNDROME TYPE 2, BBS2  209900 BBS2 606151    900
BARDET-BIEDL SYNDROME TYPE 6, BBS6 209900 BBS6 (MKKS, MKS) 604896   700
BARDET-BIEDL SYNDROME TYPE 8, BBS8 209900 TTC8 (TETRATRICOPEPTIDE REPEAT DOMAIN 8; BBS8) 608132   500
BARDET-BIEDL SYNDROME TYPE 10, BBS10 209900 BBS10 610148   800
BARDET-BIEDL SYNDROME TYPE 12, BBS12 209900 BBS12 610683   600
BARTH SYNDROME 302060 TAZ (TAFAZZIN) 300394   550
BARTTER SYNDROME, CLASSIC   See BARTTER SYNDROME, TYPE 3      

BARTTER SYNDROME, ANTENATAL, TYPE 1
» HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 1
» HYPERPROSTAGLANDIN E SYNDROME 1

 601678

SLC12A1 (SOLUTE CARRIER FAMILY 12 (SODIUM/POTASSIUM/CHLORIDE TRANSPORTER), MEMBER 1, SODIUM-POTASSIUM-CHLORIDE TRANSPORTER 2, NKCC2)

 600839   1300
BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS   See BARTTER SYNDROME, TYPE 4      
BARTTER SYNDROME, TYPE 3
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
 607364 CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 1250
Deletion-Duplication: 350
BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA   See BARTTER SYNDROME, TYPE 3      
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS		 602522 BSND (BARTTIN) 606412   300
CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) 602024   1250
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 1250
Deletion-Duplication: 350

BASAL CELL NEVUS SYNDROME
» GORLIN SYNDROME

 109400 PTCH1 (PTCH, PATCHED, PTC) 601309 Whole Gene Sequencing and Deletion-Duplication Testing  1800

BASAL GANGLIA DISEASE, ADULT-ONSET
» NEUROFERRITINOPATHY

 606159 FTL (FERRITIN LIGHT CHAIN) 134790 Whole Gene Sequencing or Iron-responsive Element Whole Gene: 700
IRE: 350
BASSEN-KORNZWEIG SYNDROME   See ABETALIPOPROTEINEMIA      
BATTEN DISEASE . See CEROID LIPOFUCSINOSIS, CLN3      
BCG AND SALMONELLA INFECTION, DISSEMINATED   See ATYPICAL MYCOBACTERIOSIS, FAMILIAL      
BEALS SYNDROME   See CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA      
BEARE-STEVENSON CUTIS GYRATA
» CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA 		123790 FGFR2 176943   500

BECKER MYOTONIA

 . See MYOTONIA CONGENITA      
BECKER MUSCULAR DYSTROPHY, BMD
» MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY		 300376 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA) Whole Gene: 1850
Deletions-Duplications (MLPA): 800

BECKWITH-WIEDEMANN SYNDROME, BWS
» EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME

 130650

CDKN1C (CYCLIN-DEPENDENT KINASE INHIBITOR 1C, p57-KIP2)

 600856   700
KCNQ1OT1 and H19 604115
and
103280  		 KCNQ1OT1 and H19 Imprinting 400
BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1   See LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1      
BERNARD-SOULIER SYNDROME
» GIANT PLATELET SYNDROME
» VON WILLEBRAND FACTOR RECEPTOR DEFICIENCY		 231200 GP9 (GLYCOPROTEIN IX, PLATELET) 173515   200
GP1BA (GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, GLYCOCALICIN) 606672   350
GP1BB (GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE) 13872    250
BEST MACULAR DYSTROPHY   See MACULAR DYSTROPHY, VITELLIFORM, VMD      

BETA HAEMOGLOBINOPATHIA
» BETA THALASSEMIA

 141900 HBB (BETA GLOBIN) 141900   390
BETA-GLUCURONIDASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 7, MPS7      
BETA-KETOTHIOLASE DEFICIENCY   See ALPHA-METHYLACETOACETIC ACIDURIA      
BETA-MANNOSIDASE DEFICIENCY   See MANNOSIDOSIS, BETA A, LYSOSOMAL      
BETA THALASSEMIA . See BETA HAEMO-GLOBINOPATHIA      
BETHLEM MYOPATHY
» MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
» MUSCULAR DYSTROPHY, BENIGN CONGENITAL		 158810 COL6A1, COL6A2, COL6A3 120220and
120240
and
120250		 3 Genes 2700
BFNC/MYOKYMIA SYNDROME   See MYOKYMIA WITH NEONATAL EPILEPSY      
BICUSPID AORTIC VALVE   See AORTIC VALVE DISEASE      
BILATERAL ACOUSTIC NEUROFIBROMATOSIS . See NEUROFIBROMATOSIS TYPE 2, NF2 .    
BILATERAL PERIVENTRICULAR HETEROTOPIA   See HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)      
BIODEFECTIVE GROWTH HORMONE   See PITUITARY DWARFISM 4      

BIOTINIDASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET
» MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET
» BTD DEFICIENCY

 253260

BTD (BIOTINIDASE)

 609019 

Whole Gene Sequencing or 8 Mutations: D444H, A171T, F403V, G98, 7-BP DEL/3-BP INS, Q456H, R157H, R538C, D252G, Detecting 60% of all BTD Mutations

 Whole Gene: 400
8 Mutations: 250
BIRT-HOGG-DUBE SYNDROME, BHD
» FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS		 135150 FLCN (FOLLICULIN, FLCL)
 607273   1100
BLADDER CANCER, TRANSITIONAL CELL   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   400
BLEPHAROFACIOSKELETAL SYNDROME   See SCHILBACH-ROTT SYNDROME      
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES 110100 FOXL2 605597 Whole Gene Sequencing and MLPA 700
BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS . See FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3 . . .

BLOCH-SULZBERGER DISEASE
» INCONTINENTIA PIGMENTI

 308300 IKBKG (NEMO) 300248 Whole Gene or 1 Mutation: Exon 4-10 Deletion Whole Gene and Common Deletion: 900
Common Deletion: 450

BLOOM SYNDROME
» (See also Molecular Screening Tests)

 210900 RECQL3 (RECQ2) 604610

Whole Gene Sequencing or 1 Mutation: 6del / 7ins

 Whole Gene: 2400
1 Mutation: 150
BOOMERANG DYSPLASIA 112310 FLNB (FILAMIN B) 663381   1900
BORJESON-FORSSMAN-LEHMANN SYNDROME 301900 PHF6 (PHD FINGER PROTEIN 6) 300414   800
BOR SYNDROME . See BRANCHIO-OTO-RENAL SYNDROME      
BORDERLINE SMEI (SMEIB)   SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 Whole Gene and Deletions-Duplications 1750
BOSLEY-SALIH-ALORAINY SYNDROME   See ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME      
BO SYNDROME, TYPE 3   See BRANCHIOOTIC SYNDROME, TYPE 3      
BOTHNIA RETINAL DYSTROPHY
» VASTERBOTTEN DYSTROPHY		 607475 RLBP1 (RETINALDEHYDE-BINDING PROTEIN 1; CELLULAR RETINALDEHYDE-BINDING PROTEIN; CRALBP) 180090   400
BRACHIAL PLEXUS NEUROPATHY, HEREDITARY   See AMYOTROPHY, HEREDITARY NEURALGIC      
BRACHMANN-DE LANGE SYNDROME   See CORNELIA DE LANGE SYNDROME      

BRACHYDACTYLY TYPE A1, BDA1
» FARABEE TYPE BRACHYDACTYLY

112500

IHH (INDIAN HEDGEHOG)

600726

.

 450

BRACHYDACTYLY TYPE A2, BDA2
» BRACHYMESOPHALANGY 2
» MOHR - WRIEDT TYPE BRACHYDACTYLY

112600

BMPR1B (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE IB, ACTIVIN RECEPTOR-LIKE KINASE 6)

603248

.

 450
BRACHYDACTYLY, TYPE B, BDB 113000 ROR2 (NTRKR2) 602337 Exons 8 and 9 530

BRACHYDACTYLY, TYPE C
» BRACHYDACTYLY, HAWS TYPE

 113100 GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) 601146   900

BRACHYDACTYLY TYPE D, BDD

113200

HOXD 13 (HOMEOBOX D13)

142989

.

 510

BRACHYDACTYLY TYPE E, BDE

113300

HOXD 13 (HOMEOBOX D13)

142989

.

 510
BRACHYMELIC PRIMORDIAL DWARFISM   See MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MOPD1      

BRACHYMESOPHALANGY 2

.

See BRACHYDACTYLY A2, BDA2

.

.

 .
BRACHYOLMIA (AUTOSOMAL DOMINANT)   See BRACHYOLMIA, TYPE 3      
BRACHYOLMIA, TYPE 3
» BRACHYOLMIA (AUTOSOMAL DOMINANT)
» BRACHYRACHIA		 113500 TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12) 605427   1300
BRACHYRACHIA   See BRACHYOLMIA, TYPE 3      
BRAIN-BONE-FAT DISEASE   See PRESENILE DEMENTIA WITH BONE CYSTS      
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
» LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
» RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY		 607595 COL4A1 120130 Whole Gene or Deletion-Duplication Whole Gene: 1400
Deletion-Duplication: 800
BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY   See MAPLE SYRUP URINE DISEASE      
BRANCHED-CHAIN KETOACIDURIA   See MAPLE SYRUP URINE DISEASE      
BRANCHIOOTIC SYNDROME, TYPE 3
» BO SYNDROME, TYPE 3		 608389 SIX1 601205   500
BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1 113650 EYA1 601653 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 600
Deletion-Duplication: 350
BRANCHIO-OTO-RENAL SYNDROME, TYPE 2, BOR2

610896

SIX5

 600963   700
BREAST AND OVARIAN CANCER . BRCA1 113705

Whole Gene (sequencing and MLPA)

 850
BRCA2 600185

Whole Gene (sequencing and MLPA) or
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)

 Whole Gene: 1300
3 Common Mutations: 400
BRCA1 and BRCA2  

2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year

 2 Whole Genes: 1900
MLPA: 600
BREAST CANCER   PALB2 (PARTNER AND LOCALIZER OF BRCA2; FANCN) 610355   880

BREAST CANCER, FAMILIAL

 114480 CHEK2 (CHECKPOINT KINASE 2) 604373 Whole Gene or *1100delC Whole Gene: 800
*1100delC: 300
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   400
TP53 (TUMOR PROTEIN p53) 191170

Whole Gene or Exons 5-8

 Whole Gene: 350
Exons 5-8: 250
BRITTLE CORNEA SYNDROME
FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY
» CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY
» DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE		 229200 ZNF469 (ZINC FINGER PROTEIN 469; KIAA1858) 612078   1250
BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION   See RUBINSTEIN-TAYBI SYNDROME      
BROAD THUMB-HALLUX SYNDROME   See RUBINSTEIN-TAYBI SYNDROME      
BROCQ SYNDROME . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL      
BROWN OCULOCUTANEOUS ALBINISM, BOCA   See OCULOCUTANEOUS ALBINISM, TYPE 2, OCA2 (TYROSINASE - POSITIVE)      
BRUCK SYNDROME, TYPE 2 609220 PLOD2 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE 2; LYSINE HYDROXYLASE 2) 601865   1700
BRUGADA SYNDROME 601144 SCN5A 600163 See also LONG QT SYNDROME 2800
BRUGADA SYNDROME, TYPE 3 611875 CACNA1C (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNL1A1; CCHL1A1; CaV1.2) 114205 Exons 8 and 8a  300
BRUNZELL SYNDROME, AGPAT2-RELATED   See LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1      
BTD DEFICIENCY   See BIOTINIDASE DEFICIENCY      
BUDD-CHIARI SYNDROME
» MEMBRANOUS OBSTRUCTION OF INFERIOR VENA CAVA		 600880 JAK2 (JANUS KINASE 2) 147796 Exon 12, including V617F Mutation 250
BULL'S EYE MACULAR DYSTROPHY   See MACULAR DYSTROPHY, CONCENTRIC ANNULAR      
BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY   See KINDLER SYNDROME      
BUPHTHALMOS . See GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A . . .
BUSCHKE-OLLENDORFF SYNDROME
 » DERMATOOSTEOPOIKILOSIS
» DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS
» DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH OSTEOPOIKILOSIS
» OSTEOPATHIA CONDENSANS DISSEMINATA
» OSTEOPOIKILOSIS, ISOLATED, INCLUDED		 166700 LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) 607844   600
BUTTERFLY DYSTROPHY OF RETINAL PIGMENT EPITHELIUM   See PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM      
BYLER DISEASE . See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1 . . .
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

C

Disease Disease OMIM Gene Gene OMIM

Comment

 Price in Euro
C3 DEFICIENCY (AUTOSOMAL RECESSIVE)   See COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE)      
CACA   See CATARACT, CRYSTALLINE ACULEIFORM OR FROSTED      
CACT DEFICIENCY   See CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY      
CADASIL . See CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKO-ENCEPHALOPATHY      
CALCINOSIS, TUMORAL, WITH HYPERPHOSPHATEMIA   See TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL      

CAMPOMELIC DYSPLASIA
» ACAMPOMELIC CAMPOMELIC DYSPLASIA

 114290

SOX9 (SRY-BOX 9)

 608160   500
CAMURATI-ENGELMANN DISEASE
» DIAPHYSEAL DYSPLASIA 1		 131300 TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, BETA-1)
190180 Whole Gene or Exon 24 Whole Gene: 800
Exon 24: 400
CANALE-SMITH SYNDROME   See AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, ALPS      
CANAVAN DISEASE
» CANAVAN-VAN BOGAERT-BERTRAND DISEASE
» ASPARTOACYLASE DEFICIENCY
» SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM
 271900 ASPA (ASPARTOACYLASE) 608034 Whole Gene and Deletions-Duplications
» (See also Molecular Screening Tests)		 500
CANAVAN-VAN BOGAERT-BERTRAND DISEASE   See CANAVAN DISEASE      
CANCER (SOMATIC MUTATIOS) .

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 Whole Gene or Deletion-Duplication Whole Gene: 840
Deletion-Duplication: 600
CAP MYOPATHY, TPM3-RELATED   See NEMALINE MYOPATHY 1, NEM1      
CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO
» CPS1 DEFICIENCY		 237300 CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) 608307   2200
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 1A   See CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, CDG1A      
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 5, FORMERLY   See CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C, CDG1C      
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY   See CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C, CDG1C      
CARBONIC ANHYDRASE 2 DEFICIENCY   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS      
CARDIAC MYXOMA 255960 PRKAR1A 188830   690

CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
» CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY

 604377 SCO2 604272   250
CARDIOFACIOCUTANEOUS SYNDROME, CFC
» CFC SYNDROME		 115150 BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   480
KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   400

MAP2K1 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1, MEK1)

 176872    600

MAP2K2 (MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2, MEK2)

 601263    600
CARDIOMEGALIA GLYCOGENICA DIFFUSA   See GLYCOGEN STORAGE DISEASE, TYPE 2      
CARDIOMYOPATHY, DILATED   CTF1 (CARDIOTROPHIN 1) 600435   800
CARDIOMYOPATHY, DILATED, TYPE 1AA 612158 ACTN2 (ACTININ, ALPHA-2) 102573   1500
CARDIOMYOPATHY, DILATED, TYPE 1C
» CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION		 601493 LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) 605906   950
CARDIOMYOPATHY, DILATED, 1G, CMD1G 604145 TTN (TITIN, CONNECTIN ) 188840 Exons 312-313 250
CARDIOMYOPATHY, DILATED, TYPE 1M 607482 CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) 600824   900
CARDIOMYOPATHY, DILATED, TYPE 1N 607487 TCAP (TITIN-CAP) 604488 » See also Next Generation Sequencing Platforms 300
CARDIOMYOPATHY, DILATED, TYPE 1O 608569 ABCC9 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; SULFONYLUREA RECEPTOR 2; SUR2) 601439   1700
CARDIOMYOPATHY, DILATED, TYPE 1P 609909 PLN (PHOSPHOLAMBAN) 172405   300
CARDIOMYOPATHY, DILATED, TYPE 1S 160760

MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA)

 160760 See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 1900
CARDIOMYOPATHY, DILATED, TYPE 1W 611407 VCL (VINCULIN, METAVINCULIN) 193065   1500
CARDIOMYOPATHY, DILATED, TYPE 1X 611615 FKTN (FUKUTIN; FCMD) 607440   700
CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION   See CARDIOMYOPATHY, DILATED, TYPE 1C      
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
» PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
» CARVAJAL SYNDROME		 605676 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8      
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 9 188840 TTN (TITIN, CONNECTIN ) 188840 Exons 312-313 250
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 612124 CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) 600824   900
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, WITH WOLFF-PARKINSON-WHITE SYNDROME 600858 PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)		 602743   650
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 115210 TNNI3 (TROPONIN I, CARDIAC) 191044  See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 400
CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10      
CARMI SYNDROME   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA      

CARNEY COMPLEX, TYPE 1
» PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

 160980 PRKAR1A 188830   690
CARNEY COMPLEX VARIANT ASSOCIATED WITH DISTAL ARTHROGRYPOSIS   See TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME      

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY
» CACT DEFICIENCY

 212138

SLC25A20 (SOLUTE CARRIER FAMILY 25, MEMBER 20, CARNITINE-ACYLCARNITINE TRANSLOCASE,
CARNITINE-ACYLCARNITINE CARRIER)

 212138  . 850
CARNITINE DEFICIENCY, PRIMARY   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      
CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      

CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
» SYSTEMIC CARNITINE DEFICIENCY
» CARNITINE DEFICIENCY, SYSTEMIC, DUE TO DEFECT IN RENAL REABSORPTION OF CARNITINE
» CARNITINE DEFICIENCY, PRIMARY
» CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF
» CARNITINE UPTAKE DEFECT

 212140

SLC22A5 (SOLUTE CARRIER FAMILY 22, ORGANIC CATION TRANSPORTER, MEMBER 5, OCTN2)

 603377  . 700

CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY

 255120

CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1)

 600528  . 1200
CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC		 600649 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 . 650
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC
» CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, ADULT-ONSET
» CPT2 DEFICIENCY, MYOPATHIC
» CPT2 DEFICIENCY, LATE-ONSET		 255110 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 . 650
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL		 608836 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 . 650
CARNITINE PALMITOYLTRANSFERASE 2 (CPT2) DEFICIENCY, MYOPATHIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL      
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE      
CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      
CARNITINE UPTAKE DEFECT   See CARNITINE DEFICIENCY, SYSTEMIC PRIMARY      
CAROLI DISEASE   See POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE, ARPKD      

CARTILAGE-HAIR HYPOPLASIA
» METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE

 250250 RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) 157660   350
CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY   See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS      
CARTILAGE-HAIR HYPOPLASIA VARIANT   See METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS      
CASPASE 8 DEFICIENCY 607271 CASP8 (CASPASE 8, FLICE, MCH5) 601763   1290
CATALASE DEFICIENCY   See ACATALASEMIA      
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY . PAX6 (PAIRED BOX GENE 6) 607108

Whole Gene Sequencing or Deletion Analysis (MLPA)

 Whole Gene: 450
MLPA: 250
CATARACT-DENTAL SYNDROME   See NANCE-HORAN SYNDROME      
CATARACT, X-LINKED, WITH HUTCHINSONIAN TEETH   See NANCE-HORAN SYNDROME      
CATCH22 . See DIGEORGE SYNDROME, DGS .    
CATLIN MARKS   See PARIETAL FORAMINA, TYPE 1      
  See PARIETAL FORAMINA, TYPE 2      
CARVAJAL SYNDROME   See CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA      
CAVERNOUS ANGIOMA, FAMILIAL, TYPE 1   See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 1      
CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2   See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2      
CAVERNOUS ANGIOMA, FAMILIAL, TYPE 3   See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3      
CBAVD . See CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS      
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
» ONDINE-HIRSCHSPRUNG DISEASE
» HADDAD SYNDROME
» AUTONOMIC CONTROL, CONGENITAL FAILURE OF		 209880 EDN3 (ENDOTHELIN 3) 131242   350
CEPHALOSKELETAL DYSPLASIA   See MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MOPD1      
CERAMIDASE DEFICIENCY   See FARBER LIPOGRANULOMATOSIS      
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1   See CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1      
CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED   See SPINOCEREBELLAR ATAXIA 27, SCA27      
CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA   See ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA      
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1
» DYSEQUILIBRIUM SYNDROME
» CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED
» CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1		 224050 VLDLR (VERY LOW DENSITY LIPOPROTEIN RECEPTOR) 192977   1400
CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE   See EPISODIC ATAXIA, TYPE 2, EA2      
CEREBELLAR ATAXIA WITH NEURONAL MIGRATION DEFECT   See POLYMICROGYRIA, BILATERAL FRONTOPARIETAL      
CEREBELLAR HEMANGIOMA . VHL 193300

Whole Gene and Deletions-Duplications

600
CEREBELLAR HYPOPLASIA, VLDLR-ASSOCIATED   See CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1      
CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA		   See EPISODIC ATAXIA, TYPE 2, EA2      

CEREBRAL AMYLOID ANGIOPATHY
» AMYLOIDOSIS, CEREBROARTERIAL
» AMYLOIDOSIS, TYPE 6
» HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA
» AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY

105150 APP 104760

Whole Gene, Deletion-Duplication or Exons 16 and 17 harbouring the majority of mutations

 Whole Gene: 700
Deletion-Duplication: 600
Exons 16 and 17: 400
CEREBRAL AUTOSOMAL DOMINANT ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, CADASIL 125310 NOTCH3 600276

Whole Gene or Exons 2, 3, 4, 5, 6 and 11 harboring the majority of mutations

 Whole Gene: 1090
Exons: 500
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 1
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 1
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 1		 116860 KRIT1 (KREV INTERACTION TRAPPED 1; CCM1) 604214   1600
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 2		 603284 CCM2 (MALCAVERNIN) 607929   2200
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 3
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 3		 603285 PDCD10 (PROGRAMMED CELL DEATH 10) 609118   1700
CEREBRAL CHOLESTERINOSIS   See CEREBROTENDINOUS XANTHOMATOSIS, CTX      

CEREBRAL GIGANTISM
» SOTOS SYNDROME

 117550 NSD1 606681 At least 20mg DNA is needed  950
CEREBROHEPATORENAL SYNDROME   See ZELLWEGER SYNDROME      
CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE   See FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY      
CEREBROOCULOFACIOSKELETAL SYNDROME, TYPE 3, COFS3   See XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G, XPG      

CEREBROTENDINOUS XANTHOMATOSIS, CTX
» CEREBRAL CHOLESTERINOSIS

 213700 CYP27A1 606530   400
CEROID LIPOFUSCINOSIS, CLN

CLN PANEL:
- CLN1
- CLN2
- CLN3
- CLN5
- CLN6
- CLN7
- CLN8
- CLN10

     3000

CEROID LIPOFUCSINOSIS, CLN1
» SANTAVUORI DISEASE

 256730 PPT1 (PALMITOYL-PROTEIN THIOESTERASE) 600722   900

CEROID LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE

 204500 CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) 204500

Whole Gene or 2 Common Mutations: R208X and IVS5-1G>C

 Whole Gene: 950
2 Common Mutations: 350

CEROID LIPOFUCSINOSIS, CLN3
» VOGT-SPIELMEYER DISEASE
» BATTEN DISEASE

 204200 CLN3 607042

Whole Gene and Common 1kb Deletion

950
CEROID LIPOFUCSINOSIS, CLN5
» NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT

256731

 CLN5 608102   700

CEROID LIPOFUCSINOSIS, CLN6
» CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE

601780

CLN6

606725

   630
CEROID LIPOFUCSINOSIS, CLN8
» CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
» NORTHERN EPILEPSY
» EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION		 610003 CLN8 607837   700
CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT   See CEROID LIPOFUCSINOSIS, CLN8      
CEROID LIPOFUCSINOSIS, NEURONAL, LATE-INFANTILE   See CEROID LIPOFUCSINOSIS, CLN6      
CERULOPLASMIN DEFICIENCY   See ACERULOPLASMINEMIA      
CETP DEFICIENCY   See CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY      
CFC SYNDROME   See CARDIOFACIOCUTANEOUS SYNDROME, CFC      

CHANARIN-DORFMAN DISEASE
» ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
» NEUTRAL LIPID STORAGE DISEASE
» ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
» TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION

 275630

CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5)

 604780   950
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 118300 PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene or
Duplication		 Whole Gene: 600 Duplication: 450
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 1D, CMT1D 607678 EGR2 (EARLY GROWTH RESPONSE 2) 129010   350
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 118210 KIF1B (KINESIN FAMILY MEMBER 1B)
 605995    3000
MFN2 (MITOFUSIN 2) 608507   800
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B, CMT2B 600882 RAB7 (RAS-ASSOCIATED PROTEIN RAB7)
 602298    600
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1, CMT2B1 605588 LMNA (LAMIN A/C) 150330   700
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D, CMT2D 601472 GARS (GLYCYL T RNA SYNTHETASE) 600287   1500
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E, CMT2E 607684 NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280 .   600

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I, CMT2I

 607677 MPZ  (MYELIN PROTEN ZERO, P0) 159440 . 500

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J, CMT2J

 607736 MPZ  (MYELIN PROTEN ZERO, P0) 159440 . 500
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, CMT2K 607831 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L, CMT2L 608673 HSPB8 (HEAT-SHOCK 22-KD PROTEIN 8) 608014   550
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS (AUTOSOMAL RECESSIVE) 607706 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A, CMT1A
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1A, HMSN1A

 118220 PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene or
Duplication		 Whole Gene: 600 Duplication: 450

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B, CMT1B
» HEREDITARY MOTOR AND SENSORY NEUROPATHY 1B, HMSN1B

 118200 MPZ (MYELIN PROTEN ZERO, P0) 159440   500
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C, CMT1C, HMSN1C 601098 LITAF (LIPOPOLYSACCHARIDE-INDUCED TUMOR NECROSIS FACTOR-ALPHA FACTOR) 603795   400
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F, CMT1F 607734 NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280 .   600
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4A, CMT4A (AUTOSOMAL RECESSIVE) 214400 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4C, CMT4C (AUTOSOMAL RECESSIVE)

 601596

SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2)

 68206   1700
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E
» CONGENITAL HYPOMYELINATING NEUROPATHY		 605253 EGR2 (EARLY GROWTH RESPONSE 2) 129010   350

CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
»DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3

  145900 EGR2 (EARLY GROWTH RESPONSE 2) 129010   350

PRX (PERIAXIN)

605725

   1100
MPZ (MYELIN PROTEN ZERO, P0) 159440   500
PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene Whole Gene: 600

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, CMTDID

 607791 MPZ  (MYELIN PROTEN ZERO, P0) 159440 . 500
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE A, CMTRIA (AUTOSOMAL RECESSIVE)

608340

 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598   800
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL DOMINANT) 606482 DNM2 (DYNAMIN 2, DYN2) 602378   1550
CHARCOT-MARIE-TOOTH DISEASE, SPINAL, TYPE 2A   See NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 2A      
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1
» CHARCOT-MARIE-TOOTH DISEASE WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B1 (AUTOSOMAL RECESSIVE)		 601382 MTMR2 (MYOTUBULARIN-RELATED PROTEIN 2) 603557   1250
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2
» CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA
» CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B2 (AUTOSOMAL RECESSIVE)		 604563 SBF2 (SET-BINDING FACTOR 2; MYOTUBULARIN-RELATED 13; MTMR13) 607697 Whole Gene or Exons 14, 23, 27, 32 Whole Gene: 2600
Exons: 450
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA   See CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2      
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CMT4D
» NEUROPATHY, HEREDITARY MOTOR AND SENSORY, LOM TYPE (HMSNL)		 601455 NDRG1 (NMYC DOWNSTREAM-REGULATED GENE 1; PROTEIN REGULATED BY OXYGEN 1; PROXY1) 605262   1100
CHARCOT-MARIE-TOOTH DISEASE WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B1 (AUTOSOMAL RECESSIVE)   See CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1      
CHARCOT-MARIE-TOOTH DISEASE, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 4B2 (AUTOSOMAL RECESSIVE)   See CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, CMT4B2      

CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY (X-LINKED), CMTX
» HEREDITARY MOTOR AND SENSORY NEUROPATHY (X-LINKED)

 302800 GJB1 (CONNEXIN 32, CX32) 304040   250
CHARGE SYNDROME 214800

CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7)

608892   1800
CHEDIAK-HIGASHI SYNDROME

214500

 LYST (LYSOSOMAL TRAFFICKING REGULATOR; CHS1) 606897   900
CHERRY RED SPOT--MYOCLONUS SYNDROME   See NEURAMINIDASE DEFICIENCY      

CHERUBISM

118400

SH3BP2

602104

Exon 9

 300
CHILBLAIN LUPUS, TYPE 2 614415 SAMHD1 (SAM DOMAIN- AND HD DOMAIN-CONTAINING PROTEIN 1; DENDRITIC CELL-DERIVED IFNG-INDUCED PROTEIN; DCIP) 606754   650
CHILD SYNDROME
» CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS
» ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS
 308050 NSDHL (NAD(P)H STEROID DEHYDROGENASE-LIKE PROTEIN) 300275   1100
CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION   LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER      

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME

243300

 		 ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) 603201   1700

ATP8B1 (FIC1)

602397

.

 1700
CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY   See CITRULLINEMIA, TYPE 2, NEONATAL-ONSET      

CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE

211600

 		 ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) 603201   1700

ATP8B1 (FIC1)

602397

.

 1700
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3
» MDR3 DEFICIENCY
» CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE		 602347 ABCB4 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; MULTIDRUG RESISTANCE 3; MDR3; P-GLYCOPROTEIN 3; PGY3)

171060

   1700
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE   See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3      
CHOLESTERYL ESTER STORAGE DISEASE   See WOLMAN DISEASE      
CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY
» CETP DEFICIENCY		 607322 CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1)

118470

   800

CHONDRODYSPLASIA, GREBE TYPE
» ACHONDROGENESIS, BRAZILIAN TYPE
» ACROMESOMELIC DYSPLASIA, GREBE TYPE

 200700 GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4) 601146   900
CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC   See CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)      
CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)
» CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC		 302950 ARSE (ARYLSULFATASE E) 300180   690

CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2
» CONRADI-HUNERMANN SYNDROME
» HAPPLE SYNDROME

 302960

EBP (EMOPAMIL-BINDING PROTEIN, 3-@BETA-HYDROXYSTEROID-DELTA-8, DELTA-7 ISOMERASE)

 300205   300
CHONDRODYSTROPHIA CALCIFICANS PUNCTATA   See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1      
CHONDRODYSTROPHIC MYOTONIA   See SCHWARTZ-JAMPEL SYNDROME, TYPE 1      
CHOREA, HEREDITARY BENIGN 118700   TITF1 (THYROID NUCLEAR FACTOR, NKX2A)
 600635   . 540
CHOREOATHETOSIS, NONKINESIGENIC   See PAROXYSMAL NONKINESIGENIC DYSKINESIA      
CHOROIDAL SCLEROSIS   See CHOROIDEREMIA      

CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS

 303100

CHM (REP1, RAB ESCORT PROTEIN 1, RAB GERANYLGERANYL TRANSFERASE)

 300390   1700
CHOROIDORETINAL DEGENERATION WITH RETINAL REFLEX IN HETEROZYGOUS WOMEN   See RETINITIS PIGMENTOSA, TYPE 3, RP3      
CHROMOSOME 9q34.3 DELETION SYNDROME   See KLEEFSTRA SYNDROME      
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE FORM 233690 CYBA (p22 PHOX) 233690   800
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 1 233700 NCF1 (p47 PHOX) 233700   350
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-POSITIVE FORM TYPE 2 233710 NCF2 (p67 PHOX) 233710   1700
CHRONIC GRANULOMATOUS DISEASE (X-LINKED) 306400 CYBB (p91 PHOX) 306400   1100
CHUVASH POLYCYTHEMIA 263400 VHL 193300

Whole Gene and MLPA

 Whole Gene and MLPA: 700

CINCA SYNDROME
» MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID

 607115 CIAS1 (CRYOPYRIN) 606416  » See Next Generation Sequencing Platforms  
CIRRHOSIS DUE TO LIVER PHOSPHORYLASE KINASE DEFICIENCY 172471  PHKG2 (PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2) 172471    700
CITRULLINURIA   See CITRULLINEMIA, CLASSIC      
CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY		 215700 ASS (ARGININOSUCCINATE SYNTHETASE) 603470   950
CITRULLINEMIA, TYPE 1   See CITRULLINEMIA, CLASSIC      
CITRULLINEMIA, TYPE 2, ADULT-ONSET 603471 SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) 603859   1150
CITRULLINEMIA, TYPE 2, NEONATAL-ONSET
» CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY

605814

 SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) 603859   1150
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, TYPE 5   See OROFACIAL CLEFT, TYPE 5      
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE 192090

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 Whole Gene or Deletion-Duplication Whole Gene: 840
Deletion-Duplication: 600

CLEIDOCRANIAL DYSPLASIA, CCD 

119600

RUNX2 (CBFA 1)

600211

.

 900

CLOUSTON SYNDROME
» HYDROTIC ECTODERMAL DYSPLASIA, ED2
» ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME

129500 GJB6 (CONNEXIN 30, CX30) 604418 Whole Gene 200
COAGULATION FACTOR 11 DEFICIENCY   See PTA DEFICIENCY      
COATS DISEASE 300216 NDP (NORRIN)  310600  Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 450
Deletion-Duplication Testing: 450
COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A		 216400 ERCC8 (EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; CSA) 609412   1000
COCKAYNE SYNDROME, TYPE 2
» COCKAYNE SYNDROME, TYPE B		 133540 ERCC6(EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; CSB)
 133540   600
COCKAYNE SYNDROME, TYPE A   See COCKAYNE SYNDROME, TYPE 1      
COCKAYNE SYNDROME, TYPE B   See COCKAYNE SYNDROME, TYPE 2      
COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA OF HANDS AND FEET      
COENZYME Q10 DEFICIENCY 607426 COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL) 609825   650
PDSS1 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1) 607429   800
PDSS2 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2) 610564   650
COFFIN-LOWRY SYNDROME, CLS 303600 RPS6KA3 (RSK2) 300075   1100
COGAN CORNEAL DYSTROPHY   See CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE      
COHEN SYNDROME, COH1 216550 COH1 607817  Whole Gene or Exon 23, including the “Finnish mutation” (c.3348-3349delCT) Whole Gene: 4500
Exon 23: 350

COLD URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME

 120100 CIAS1 (CRYOPYRIN) 606416  » See Next Generation Sequencing Platforms  

COLLODION FETUS
» LAMELLAR ICHTHYOSIS

 242300 TGM1 (TRANSGLUTAMINASE) 190195   1400
COLON, ADENOMATOUS POLYPOSIS . See POLYPOSIS COLI, ADENOMATOUS      
COLORBLINDNESS, TOTAL   See ACHROMATOPSIA, TYPE 2      
COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) 608456

MYH (MUTYH, MUTY, E. COLI, HOMOLOG OF)

604933  Whole Gene 950

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1
» LYNCH CANCER FAMILY SYNDROME, TYPE 1

 114500 MLH1 120436 Whole Gene and MLPA 850
MSH2 120435 Whole Gene and MLPA 750
MSH6 600678 Whole Gene and MLPA 750
MLH1, MSH2 and MSH6  

3 Genes (Whole Gene and MLPA)

 1950

COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2
» LYNCH CANCER FAMILY SYNDROME, TYPE 2

 114400 MLH1 120436 Whole Gene and MLPA 850
MSH2 120435 Whole Gene and MLPA 750
MSH6 600678 Whole Gene and MLPA 750
MLH1, MSH2 and MSH6  

3 Genes (Whole Gene and MLPA)

 1950
PMS2 600259   800
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6, HNPCC6 190182 TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 2) 190182 . 550
COLORECTAL CANCER, SOMATIC 114500 AXIN2 (AXIS INHIBITOR 2, CONDUCTIN) 604433   800
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   480
COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1   See HEMOLYTIC-UREMIC SYNDROME, HUS      
COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY   See CORNEAL DYSTROPHY, AVELLINO TYPE      
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3
» ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS		 610505 TSFM (Ts TRANSLATION ELONGATION FACTOR, MITOCHONDRIAL) 604723   500
COMMON VARIABLE HYPOGAMMAGLOBULINEMIA   See COMMON VARIABLE IMMUNODEFICIENCY      

COMMON VARIABLE IMMUNODEFICIENCY
» COMMON VARIABLE HYPOGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA, ACQUIRED
» IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET

 240500

TNFRSF13 (TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 13B, TRANSMEMBRANE ACTIVATOR AND CAML INTERACTOR, TACI1)

 604907   1000
COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE)
» C3 DEFICIENCY (AUTOSOMAL RECESSIVE)		 120700 C3 (COMPLEMENT COMPONENT 3) 120700   1500
COMPLEMENT FACTOR 1 DEFICIENCY 217030

CFI (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR)

 217030 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 900
Deletion-Duplication: 350
COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
COMPLEX 2, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF   See CYTOCHROME c OXIDASE DEFICIENCY      
CONE DYSTROPHY, TYPE 3, COD3 602093 GUCA1A (GUANYLATE CYCLASE ACTIVATOR 1A; GUANYLIN 1, RETINA; GUCA1) 600364   350
CONE DYSTROPHY WITH NIGHT BLINDNESS AND SUPERNORMAL ROD RESPONSES, KCNV2-RELATED   See RETINAL CONE DYSTROPHY, TYPE 3B      
CONE-ROD DEGENERATION (X-LINKED)   See RETINITIS PIGMENTOSA, TYPE 15, RP15      
CONE-ROD DYSTROPHY 604011 UNC119 (UNC119, C. ELEGANS, HOMOLOG OF; HUMAN RETINAL GENE 4; HRG4) 604011   350
CONE-ROD DYSTROPHY, AIPL1-RELATED   See LEBER CONGENITAL AMAUROSIS, TYPE 4, LCA4      

CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1
» ACHROMATOPSIA, INCOMPLETE (X-LINKED)

304020

 RPGR (RETINITIS PIGMENTOSA GTPase REGULATOR) 312610 Exons 1-15 and ORF15 950
CONE-ROD DYSTROPHY (X-LINKED), TYPE 3, CORDX3 300476 CACNA1F (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, ALPHA-1F SUBUNIT) 300110   900
CONE-ROD DYSTROPHY, TYPE 2, CORD2 120970 CRX (CONE-ROD HOMEOBOX-CONTAINING GENE) 602225   350
CONE-ROD DYSTROPHY, TYPE 5, CORD5 600977 PITPNM3 (PHOSPHATIDYLINOSITOL TRANSFER PROTEIN, MEMBRANE-ASSOCIATED, 3; PYK2 N-TERMINAL DOMAIN-INTERACTING RECEPTOR 1; NIR1) 608921   600
CONE-ROD DYSTROPHY, TYPE 6, CORD6 601777 GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) 600179   700
CONE-ROD DYSTROPHY, TYPE 7, CORD7 603649 RIMS1 (PROTEIN REGULATING SYNAPTIC MEMBRANE EXOCYTOSIS 1; RIM; RAB3A-INTERACTING MOLECULE 1) 606629   800
CONE-ROD DYSTROPHY, TYPE 9, CORD9 612775 ADAM9 (A DISINTEGRIN AND METALLOPROTEINASE DOMAIN 9; MYELOMA CELL METALLOPROTEINASE; MCMP; METALLOPROTEINASE-LIKE, DISINTEGRIN-LIKE, AND CYSTEINE-RICH PROTEIN 9; MDC9) 602713   650
CONE-ROD DYSTROPHY, TYPE 10, CORD10 610283 SEMA4A (SEMAPHORIN 4A; SEMA4A; SEMAPHORIN B; SEMAB; SEMB)

607292

   500
CONE-ROD DYSTROPHY, TYPE 11, CORD11 610381 RAX2 (RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; Q50-TYPE RETINAL HOMEOBOX; QRX) 610362   800
CONE-ROD DYSTROPHY, TYPE 12, CORD12 612657 PROM1 (PROMININ 1; PROMININ, MOUSE, HOMOLOG-LIKE 1; PROML1) 604365   600
CONE-ROD DYSTROPHY, TYPE 13, CORD13 608194 RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) 605446   700
CONE-ROD DYSTROPHY, TYPE 15, CORD15 613660 CDHR1 (CADHERIN-RELATED FAMILY, MEMBER 1; PROTOCADHERIN 21; PCDH21; PHOTORECEPTOR CADHERIN; PRCAD) 609502   800
CONGENITAL ANALGESIA (AUTOSOMAL RECESSIVE)   See INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE)      
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN 604168 CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) 604927 1 Mutation: IVS6, C-T, +389 250

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME
» ONDINE CURSE
» ONDINE-HIRSCHSPRUNG DISEASE
» HADDAD SYNDROME

209880

PHOX2B

603851

.

. 		 500
CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD 277180 CFTR 602421

Whole Gene, 30 Mutations Kit, 200 Mutations Kit (34 mutation kit and sequencing of exons 7, 10 and 20) or MLPA

 Whole Gene: 900
30 Mutations Kit: 250
200 Mutations Kit: 400
MLPA: 350
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, CDG1A
» JAEKEN SYNDROME
» CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 1A
» PHOSPHOMANNOMUTASE 2 DEFICIENCY		 212065 PMM2 (PHOSPHOMANNOMUTASE 2) 601785   850
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B, CDG1B
» SAGUENAY-LAC SAINT-JEAN SYNDROME, SLSJ SYNDROME
» MANNOSEPHOSPHATE ISOMERASE DEFICIENCY
» PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME		 602579 MPI (MANNOSEPHOSPHATE ISOMERASE; PHOSPHOMANNOSE ISOMERASE 1) 604041   600
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1C, CDG1C
» CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY
» CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE 5, FORMERLY		 603147 ALG6 (ALG6, S. CEREVISIAE, HOMOLOG OF) 604566   1100
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1E, CDG1E 608799 DPM1 (DOLICHYL-PHOSPHATE MANNOSYLTRANSFERASE 1, CATALYTIC SUBUNIT; DOLICHOL-PHOSPHATE MANNOSYLTRANSFERASE ) 603503   800
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1F, CDG1F 609180 MPDU1 (MANNOSE-P-DOLICHOL UTILIZATION DEFECT 1) 609458   550
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1G, CDG1G 607143 ALG12 (ALG12, S. CEREVISIAE, HOMOLOG OF; ASPARAGINE-LINKED GLYCOSYLATION 12, HOMOLOG OF; DOLICHYL-P-MANNOSE:MAN-7-GlcNAc-2-PP-DOLICHYL-ALPHA-6-MANNOSYLTRANSFERASE) 607144   700
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1H, CDG1H 608104 ALG8 (ALG8, S. CEREVISIAE, HOMOLOG OF) 608103   1000
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1J, CDG1J 608093 DPAGT1 (DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE PHOSPHOTRANSFERASE; UDP-GlcNAc:DOLICHYL-PHOSPHATE N-ACETYLGLUCOSAMINE-PHOSPHOTRANSFERASE) 191350   950
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1L, CDG1L 608776 ALG9 (ALG9, S. CEREVISIAE, HOMOLOG OF) 606941   1100
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1N, CDG1N 612015 RFT1 (RFT1, S. CEREVISIAE, HOMOLOG OF) 611908   1600
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2A, CDG2A 212066 MGAT2 (ALPHA-1,6-@MANNOSYL-GLYCOPROTEIN BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE) 602616   300
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2B, CDG2B
» GLUCOSIDASE 1 DEFICIENCY		 606056 GCS1 (GLUCOSIDASE 1) 601336   640
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2C, CDG2C
» LEUKOCYTE ADHESION DEFICIENCY, TYPE 2C
» RAMBAM-HASHARON SYNDROME		 266265 SLC35C1 (SOLUTE CARRIER FAMILY 35, MEMBER C1;GDP-FUCOSE TRANSPORTER 1) 605881   400
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2D, CDG2D 607091 B4GALT1 (UDP-GAL:BETA-GlcNAc BETA-1,4-GALACTOSYLTRANSFERASE, POLYPEPTIDE 1; BETA-1,4-GALACTOSYLTRANSFERASE 1) 137060   700
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2E, CDG2E 608779 COG7 (COMPONENT OF OLIGOMERIC GOLGI COMPLEX 7) 606978   1500
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2F, CDG2F 603585 SLC35A1 (SOLUTE CARRIER FAMILY 35 (CMP-SIALIC ACID TRANSPORTER), MEMBER 1; CYTIDINE MONOPHOSPHATE-SIALIC ACID TRANSPORTER) 605634   850
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2H, CDG2H

611182

 COG8 (COMPONENT OF OLIGOMERIC GOLGI COMPLEX 8) 606979   550
CONGENITAL HEART DISEASE (X-LINKED) . ZIC3  300265 . 550
CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS   See CHILD SYNDROME      
CONGENITAL HYPOMYELINATING NEUROPATHY   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E      
CONGENITAL LIPOMATOSIS OF PANCREAS   See SHWACHMAN-DIAMOND SYNDROME, SDS      
CONGENITAL MYASTHENIC SYNDROME, TYPE 1A   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA      
CONGENITAL MYASTHENIC SYNDROME, TYPE 1B   See MYASTHENIA, LIMB-GIRDLE, FAMILIAL      
CONGENITAL MYASTHENIC SYNDROME, TYPE 1C   See ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY      
CONGENITAL NEUTROPENIA   See NEUTROPENIA, SEVERE CONGENITAL, SCN      
CONOTRUNCAL ANOMALY FACE SYNDROME
» DOUBLE-OUTLET RIGHT VENTRICLE
» TRUNCUS ARTERIOSUS COMMUNIS		 217095 TBX1 (T-BOX 1) 602054   1250
CONRADI-HUNERMANN SYNDROME   See CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2      
CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY   See EPISODIC ATAXIA, TYPE 1, EA1      
CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA
» BEALS SYNDROME
121050 FBN2 (FIBRILLIN 2)

121050

   1300
CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1   See EPILEPSY, BENIGN NEONATAL, TYPE 1      
CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 2   See EPILEPSY, BENIGN NEONATAL, TYPE 2      
CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA   See MYOKYMIA WITH NEONATAL EPILEPSY      
COPROPORPHYRIA
» COPROPORPHYRINOGEN OXIDASE DEFICIENCY
» HARDEROPORPHYRINURIA		 121300 CPOX (CPO, COPROPORPHYRINOGEN OXIDASE) 121300 See also PHORPHYRIA PANEL 700
COPROPORPHYRINOGEN OXIDASE DEFICIENCY   See COPROPORPHYRIA      
CORI DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 3      
CORNEAL DYSTROPHY, AVELLINO TYPE
» COMBINED GRANULAR-LATTICE CORNEAL DYSTROPHY
» GRANULAR CORNEAL DYSTROPHY, TYPE 2		 607541 TGFBI (TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; BIGH3) 601692   600
CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE
» COGAN CORNEAL DYSTROPHY
» CORNEAL DYSTROPHY, MAP-DOT-FINGERPRINT TYPE
» CORNEAL DYSTROPHY, MICROCYSTIC		 121820 TGFBI (TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; BIGH3) 601692   600
CORNEAL DYSTROPHY, GEOGRAPHIC   See CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1      
CORNEAL DYSTROPHY, GROENOUW TYPE 1
» GRANULAR CORNEAL DYSTROPHY, TYPE 1
» CORNEAL DYSTROPHY, PUNCTATE OR NODULAR		 121900 TGFBI (TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; BIGH3) 601692   600
CORNEAL DYSTROPHY, HONEYCOMB-SHAPED   See CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 2      
CORNEAL DYSTROPHY, LATTICE TYPE 1 122200 TGFBI (TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; BIGH3) 601692   600
CORNEAL DYSTROPHY, LATTICE TYPE 3A 608471 TGFBI (TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; BIGH3) 601692   600
CORNEAL DYSTROPHY, MAP-DOT-FINGERPRINT TYPE   See CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE      
CORNEAL DYSTROPHY, MICROCYSTIC   See CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE      
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1
» CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE
» CORNEAL DYSTROPHY, GEOGRAPHIC
» GRANULAR CORNEAL DYSTROPHY, TYPE 3		 608470 TGFBI (TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; BIGH3) 601692   600
CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 2
» CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE
» CORNEAL DYSTROPHY, HONEYCOMB-SHAPED		 602082 TGFBI (TRANSFORMING GROWTH FACTOR, BETA-INDUCED, 68-KD; KERATOEPITHELIN; BETA-IG-H3; BIGH3) 601692   600
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 PPCD1 122000 VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)     850
CORNEAL DYSTROPHY, PUNCTATE OR NODULAR   See CORNEAL DYSTROPHY, GROENOUW TYPE 1      
CORNEAL DYSTROPHY, REIS-BUCKLERS TYPE   See CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1      
CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE   See CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 2      
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 614039 TUBB3 (TUBULIN, BETA-3; TUBB4) 602661   690
CORNEAL FRAGILITY, KERATOGLOBUS, BLUE SCLERAE, JOINT HYPEREXTENSIBILITY   See BRITTLE CORNEA SYNDROME
FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY		      
CORNELIA DE LANGE SYNDROME
» BRACHMANN-DE LANGE SYNDROME
 122470 NIPBL 608667  Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 1600
Deletion-Duplication: 350
CORNELIA DE LANGE SYNDROME, TYPE 3 610759 SMC3 (STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; CHONDROITIN SULFATE PROTEOGLYCAN 6; BAMACAN) 606062   1200
CORNELIA DE LANGE SYNDROME (X-LINKED) 300590 SMC1A (STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A, SMC1L1, SMC1) 300040    850
CORONARY SCLEROSIS, MEDIAL, OF INFANCY   See ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY      
CORPUS CALLOSUM AGENESIS (X-LINKED), ACC 304100 L1 (L1CAM) 308840   900
CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME   See PITT-HOPKINS-LIKE SYNDROME, TYPE 1      
CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY
» ALDOSTERONE DEFICIENCY 1
» HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1
» ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE
» 18-@HYDROXYLASE DEFICIENCY
» STEROID 18-@HYDROXYLASE DEFICIENCY

203400

 CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)		 124080    1500

CORTISOL 11-BETA-KETOREDUCTASE DEFICIENCY
» APPARENT MINERALOCORTICOID EXCESS
» 11-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE 2

  218030 HSD11B2 218030   400
CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT   See GLUCOCORTICOID RECEPTOR DEFICIENCY      
COSTEFF SYNDROME   See OPTIC ATROPHY, TYPE 3, OPA3 (AUTOSOMAL RECESSIVE)      

COSTELLO SYNDROME
» FACIOCUTANEOSKELETAL SYNDROME

 218040

HRAS (V-HA-RAS HARVEY RAT SARCOMA VIRAL ONCOGENE HOMOLOG)

 190020

 

 450
COVESDEM SYNDROME    See ROBINOW SYNDROME (AUTOSOMAL RECESSIVE)      

COWDEN DISEASE 
» LHERMITTE-DUCLOS DISEASE 

 158350

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

 601299   2100
PTEN 601728

Whole Gene and Deletions-Duplications

 1600
COX DEFICIENCY   See CYTOCHROME c OXIDASE DEFICIENCY      
CPS1 DEFICIENCY   See CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO      
CPT1 DEFICIENCY   See CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY      
CPT2 DEFICIENCY, HEPATIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE      
CPT2 DEFICIENCY, LATE-ONSET   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CPT2 DEFICIENCY, LETHAL NEONATAL   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL      
CPT2 DEFICIENCY, MYOPATHIC   See CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LATE-ONSET      
CRANIOCARPOTARSAL DYSTROPHY   See ARTHROGRYPOSIS, DISTAL, TYPE 2A      
CRANIOFACIAL ANOMALIES, EMPTY SELLA TURCICA, CORNEAL ENDOTHELIAL CHANGES, AND ABNORMAL RETINAL AND AUDITORY BIPOLAR CELLS .  VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)     850
CRANIOFRONTONASAL DYSOSTOSIS . See CRANIOFRONTONASAL SYNDROME, CFNS . .. .
CRANIOFRONTONASAL SYNDROME, CFNS
» CRANIOFRONTONASAL DYSOSTOSIS		 304110 EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) 300035 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 650
Deletion-Duplication: 400
CRANIOMANDIBULAR DERMATODYSOSTOSIS  . See MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA .    
CRANIOORODIGITAL SYNDROME   See OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2      
CRANIOSYNOSTOSIS, APERT SYNDROME
.
 
 
  
CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA . See BEARE-STEVENSON CUTIS GYRATA      
CRANIOSYNOSTOSIS, BOSTON-TYPE   See CRANIOSYNOSTOSIS, TYPE 2      
CRANIOSYNOSTOSIS, CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS   See CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS      
CRANIOSYNOSTOSIS, CROUZON SYNDROME   See CROUZON SYNDROME      

CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

..

See JACKSON-WEISS SYNDROME

.

.

  

CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE)

..

See NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE)

.

.

  
CRANIOSYNOSTOSIS, PFEIFFER SYNDROME . See PFEIFFER SYNDROME . . .
CRANIOSYNOSTOSIS-RADIAL APLASIA SYNDROME   See BALLER-GEROLD SYNDROME      

CRANIOSYNOSTOSIS, SADDAN DYSPLASIA

.

See SADDAN DYSPLASIA

.

.

  

CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

..

See SAETHRE-CHOTZEN SYNDROME

.

.

  

CRANIOSYNOSTOSIS, TYPE 2
» CRANIOSYNOSTOSIS, BOSTON-TYPE

 604757 MSX2 (MUSCLE SEGMENT HOMEOBOX, DROSOPHILA, HOMOLOG OF, 2) 123101   900
CRANIOSYNOSTOSIS WITH RADIAL DEFECTS   See BALLER-GEROLD SYNDROME      

CRASH SYNDROME
» MENTAL RETARDATION, APHASIA, SHUFFLING GATE, AND ADDUCTED THUMBS SYNDROME, MASA

 303350 L1 (L1CAM) 308840   900
CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY   See GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY      

CREATINE DEFICIENCY SYNDROME (X-LINKED)

300352

 SLC6A8 (CREATINE TRANSPORTER, CT1) 300036 Blood in RNA PAX tubes 1500
CREE ENCEPHALITIS   See AICARDI-GOUTIERES SYNDROME 1      
CREE LEUKOENCEPHALOPATHY   LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER      

CREUTZFELDT-JAKOB DISEASE, CJD

123400

 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 300
CRIGLER-NAJJAR SYNDROME, TYPE 1

218800

 UGT1A1  (UDP-GLYCURONOSYL TRANSFERASE) 191740   730
CRIGLER-NAJJAR SYNDROME, TYPE 2 606785 UGT1A1  (UDP-GLYCURONOSYL TRANSFERASE) 191740   730
CRISWICK-SCHEPENS SYNDROME   See EXUDATIVE VITREORETINOPATHY, TYPE 1      

CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS
» CROUZONO DERMO SKELETAL SYNDROME
» CRANIOSYNOSTOSIS, CROUZON CRANIOSYNOSTOSIS WITH ACANTHOSIS NIGRICANS

 . FGFR3 134934   500
CROUZON SYNDROME
» CRANIOSYNOSTOSIS, CROUZON SYNDROME		 123500 FGFR2 176943   500
CRYPTIC Y-CHROMOSOMAL MATERIAL . TSPY (TESTIS-SPECIFIC PROTEIN, Y-LINKED)
 480100 . 350
CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME   See FRASER SYNDROME      
CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS   See FRASER SYNDROME      
CSBN, COMPLETE (AUTOSOMAL RECESSIVE)   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D      
CSNB, COMPLETE (X-LINKED)   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A      
CSNB, INCOMPLETE (X-LINKED)   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A, CSNB2A      
CURRARINO TRIAD
» SACRAL AGENESIS SYNDROME
» SACRAL AGENESIS, HEREDITARY, WITH PRESACRAL MASS, ANTERIOR MENINGOCELE, AND/OR TERATOMA, AND ANORECTAL MALFORMATION		 176450 MNX1 (MOTOR NEURON AND PANCREAS HOMEOBOX 1; HLXB9; HOMEOBOX GENE HB9)
 142994    700
CUSHING DISEASE, PITUITARY   See PITUITARY ADENOMA, ACTH-SECRETING      
CUTANEOUS MALIGNANT MELANOMA 2, CMM2 155601 CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A; P16; CDKN2) 600160   380
CUTIS LAXA (AUTOSOMAL DOMINANT) 123700 ELN (ELASTIN) 130160 Sequencing or MLPA Sequencing: 850
MLPA: 400
FBLN5 (FIBULIN 5) 604580   800
CUTIS LAXA (AUTOSOMAL RECESSIVE) 219100 FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2) 607844   800
FBLN5 (FIBULIN 5) 604580   800
CUTIS LAXA, DEBRE TYPE   See CUTIS LAXA, TYPE 2A (AUTOSOMAL RECESSIVE)      
CUTIS LAXA, TYPE 2A (AUTOSOMAL RECESSIVE)
» CUTIS LAXA, DEBRE TYPE		 219200 ATP6V0A2 (ATPase, H+ TRANSPORTING, LYSOSOMAL, V0 SUBUNIT A2) 611716   850
CUTIS LAXA, TYPE 2B (AUTOSOMAL RECESSIVE) 612940 PYCR1 (PYRROLINE-5-CARBOXYLATE REDUCTASE 1) 179035   850
CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES
» URBAN-RIFKIN-DAVIS SYNDROME		 613177 LTBP4 (LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 4) 604710   850

CYCLIC HEMATOPOIESIS
» CYCLIC NEUTROPENIA

162800

 ELA2 (ELASTASE 2) 130130   700
CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS
» HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS 		. KRT1 (KERATIN 1) 139350

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400
CYCLIC NEUTROPENIA   See CYCLIC HEMATOPOIESIS      
CYP21 DEFICIENCY   See ADRENAL HYPERPLASIA, CONGENITAL DUE TO 21-HYDROXYLASE DEFICIENCY, CAH1      
CYSTIC FIBROSIS, CF 219700 CFTR 602421

Whole Gene, 30 Mutations Kit, 200 Mutations Kit (34 mutation kit and sequencing of exons 7, 10 and 20) or MLPA

 Whole Gene: 900
30 Mutations Kit: 250
200 Mutations Kit: 400
MLPA: 350
CYSTINOSIS, ADULT NONNEPHROPATHIC 219750 CTNS (CYSTINOSIN) 606272 Whole Gene or Common 56 kb Deletion Whole Gene: 1000
Common Deletion: 250
CYSTINOSIS, INTERMEDIATE   See CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE      

CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT, NEPHROPATHIC TYPE
» CYSTINOSIS, INTERMEDIATE

 219900 CTNS (CYSTINOSIN) 606272 Whole Gene or Common 56 kb Deletion Whole Gene: 1000
Common Deletion: 250
CYSTINOSIS, NEPHROPATHIC 219800 CTNS (CYSTINOSIN) 606272 Whole Gene or Common 56 kb Deletion Whole Gene: 1000
Common Deletion: 250

CYSTINURIA TYPE 1

 

220100

 SLC3A1 (RBAT) 104614 Whole Gene 650
SLC7A9 604144 Whole Gene 700

SLC3A1 (RBAT)
(analyzed together with SLC7A9)

104614

 10 mutations in SLC3A1:
Thr216Met, Ser217Arg, Arg365Trp,
Arg365Leu,
Arg362Cys, Met467Thr,
Met467Lys, 1500+1G/T, Glu483X duplication of exons 5-9

includes

7 mutations
in SLC7A9:
Gly105Arg, Thr123Met, Phe140Ser, Ala182Thr, 747delG, 244delE, Arg333Trp		 700

SLC7A9
(analyzed together with SLC3A1)

604144

 700

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

 252010 NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT) 157655 . 1200
NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT) 603846 . 1200
NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ) 602694 . 1200
NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST) 601825 . 1200
NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) 602141 . 1200
NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) 161015 . 1200
CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 2, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF		 252011 SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) 600857 . 1200

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 3, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

 124000 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 . 600

CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF

 220110 COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) 602125 . 650

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

 603646 . 1200
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) 300502   1100
SCO2 604272   250
SURF1 (SURFEIT 1) 185620   600
CYTOCHROME c OXIDASE DEFICIENCY, FATAL INFANTILE, WITH CARDIOENCEPHALOMYOPATHY   See CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

D

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro
DALMATIAN HYPOURICEMIA   See HYPOURICEMIA, RENAL      
DANON DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
DARIER DISEASE . See DARIER-WHITE DISEASE .    
DARIER-WHITE DISEASE
» KERATOSIS FOLLICULARIS
» DARIER DISEASE		 124200 ATP2A2 (ATP2B, SERCA2) 108740   2200
DBS/FOAR SYNDROME   See DONNAI-BARROW SYNDROME      
DEAFNESS Deletion-Duplication Testing GJB2, GJB3, GJB6, POU3F4 and WFS1 gene: also detects the GJB2 mutations c.35delG, c.313del14, c.235delC, c.167delT, IVS1+1G> A and c.101T> C (p.M34T) GJB2, GJB3, GJB6, POU3F4 and WFS1     400
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 2   See DEAFNESS, DFNA2      
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 12   See DEAFNESS, DFNA12      
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13   See DEAFNESS, DFNA13      
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 22   See DEAFNESS, DFNA22      
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 36   See DEAFNESS, DFNA36      
DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53   See DEAFNESS, DFNA53      
DEAFNESS (AUTOSOMAL RECESSIVE), 12   See DEAFNESS, DFNB12      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 6   See DEAFNESS, DFNB6      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 7   See DEAFNESS, DFNB7      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 11   See DEAFNESS, DFNB7      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9   See DEAFNESS, DFNB9      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 18   See DEAFNESS, DFNB18      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 21   See DEAFNESS, DFNB21      
DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 37   See DEAFNESS, DFNB37      

DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION, DFN3
» PERILYMPHATIC GUSHER-DEAFNESS SYNDROME

  . 

POU3F4 (POU DOMAIN, CLASS 3, TRANSCRIPTION FACTOR 4)

 300039   300

DEAFNESS, DFNA2
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 2

 600101 GJB3 (CONNEXIN 31, CX31) 603324

Whole Gene Sequencing GJB3 and GJB4

 750
KCNQ4 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 4) 603537   800

DEAFNESS, DFNA3
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 3

 601544 GJB2 (CONNEXIN 26, CX26) 121011   200
GJB6 (CONNEXIN 30, CX30) 604418 Whole Gene 200

DEAFNESS, DFNA6
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 6

 600965 WFS1 (WOLFRAMIN ) 606201 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 400
Deletion-Duplication: 350
DEAFNESS, DFNA9
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 9		 603196 COCH (COCHLIN)
 603196   800
DEAFNESS, DFNA12
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 12		 601543 TECTA (TECTORIN, ALPHA) 602574   1100
DEAFNESS, DFNA13
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13		 601868 COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 Turn-around-time: 30 Weeks 3300
DEAFNESS, DFNA17
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 17
 603622 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1400
DEAFNESS, DFNA22
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 22		 606346 MYO6 (MYOSIN 6) 600970 » See also Next Generation Sequencing Platforms  
DEAFNESS, DFNA23 (AUTOSOMAL DOMINANT) 605192 SIX1 601205   500
DEAFNESS, DFNA36
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 36		 606705 TMC1 (TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1) 606706 » See also Next Generation Sequencing Platforms  
DEAFNESS, DFNA53
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53 		609706 COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 Turn-around-time: 30 Weeks 3300

DEAFNESS, DFNB1
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 1

 220290 GJB2 (CONNEXIN 26, CX26) 121011   200
GJB6  (CONNEXIN 30, CX30) 604418 Whole Gene 200
DEAFNESS, DFNB4
» DEAFNESS, (AUTOSOMAL RECESSIVE), NEUROSENSORY 4		 600791 SLC26A4 (PENDRIN) 605646   900
DEAFNESS, DFNB6
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 6		 600971 TMIE (TRANSMEMBRANE INNER EAR-EXPRESSED GENE) 607237 » See also Next Generation Sequencing Platforms  
DEAFNESS, DFNB7
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 7
» DEAFNESS, DFNB11
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 11		 600974 TMC1 (TRANSMEMBRANE COCHLEAR-EXPRESSED GENE 1) 606706 » See also Next Generation Sequencing Platforms  

DEAFNESS, DFNB9
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 9
» AUDITORY NEUROPATHY, AUTOSOMAL RECESSIVE, TYPE 1

 601071

OTOF (OTOFERLIN)

 603681    1500
DEAFNESS, DFNB11   See DEAFNESS, DFNB7      
DEAFNESS, DFNB12
» DEAFNESS (AUTOSOMAL RECESSIVE), 12		 601386 CDH23 (CADHERIN 23; OTOCADHERIN; CADHERIN-RELATED FAMILY, MEMBER 23) 605516   900
DEAFNESS, DFNB18
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 18		 602092 USH1C (HARMONIN) 605242   650
DEAFNESS, DFNB21
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 21		 603629 TECTA (TECTORIN, ALPHA) 602574   1100
DEAFNESS, DFNB37
» DEAFNESS, (AUTOSOMAL RECESSIVE), NONSYNDROMIC SENSORINEURAL 37		 607821 MYO6 (MYOSIN 6) 600970 » See also Next Generation Sequencing Platforms  
DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME   See MOHR-TRANEBJAERG SYNDROME      
DEAFNESS, MITOCHONDRIAL . Listed separately.
» See also (Mitochondrial Molecular Tests) 		      
DEAFNESS, SENSORINEURAL, WITH IMPERFORATE ANUS AND THUMB ANOMALIES   See TOWNES-BROCKS SYNDROME      
DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY   See MOHR-TRANEBJAERG SYNDROME      
DEAFNESS, WITH KERATITIS AND ICHTHYOSIS . See KERATITIS-ICHTHYOSIS-DEAFNESS      
DEAFNESS, WITH PALMOPLANTAR KERATODERMA . See PALMOPLANTAR KERATODERMA WITH DEAFNESS      
DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F      
DE LA CHAPELLE DYSPLASIA   See ATELOSTEOGENESIS TYPE 2      
DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION   See FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE      
DEMENTIA, PREFRONTAL, WITH BONE CYSTS   See PRESENILE DEMENTIA WITH BONE CYSTS      
DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA   See PRESENILE DEMENTIA WITH BONE CYSTS      
DE MORSIER SYNDROME   See SEPTOOPTIC DYSPLASIA      
DENT NEPHROCALCINOSIS 300009 CLCN5 300008   800

OCRL1

309000.

   800
DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, DRPLA 125370 DRPLA (ATROPHIN 1) 125370

Repeat

 250

DENYS-DRASH SYNDROME
» WILMS TUMOR AND PSEUDOHERMAPHRODITISM

 194080 WT1 (WILMS TUMOR 1 GENE) 607102

Whole Gene Sequencing or Deletion-Duplication Testing

 Whole Gene: 550
Deletion-Duplication: 400
DERMATOFIBROSIS, DISSEMINATED, WITH OSTEOPOIKILOSIS   See BUSCHKE-OLLENDORFF SYNDROME      
DERMATOFIBROSIS LENTICULARIS DISSEMINATA WITH
OSTEOPOIKILOSIS		   See BUSCHKE-OLLENDORFF SYNDROME      
DERMATOOSTEOPOIKILOSIS   See BUSCHKE-OLLENDORFF SYNDROME      
DESMINOPATHY, PRIMARY   See MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED      
DESMIN-RELATED MYOPATHY WITH MALLORY BODIES   See RIGID SPINE MUSCULAR DYSTROPHY, TYPE 1      
DEVELOPMENTAL VERBAL DYSPRAXIA   SPEECH-LANGUAGE DISORDER, TYPE 1      
DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS   See KARTAGENER SYNDROME      
D-GLYCERATE DEHYDROGENASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 2      
DHAPAT DEFICIENCY   See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, RCDP2      
DIABETES INSIPIDUS AND MELLITUS WITH OPTIC ATROPHY AND DEAFNESS . See WOLFRAM SYNDROME      
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT) 125800 AQP2 (AQUAPORIN 2) 107777   320
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) 222000 AQP2 (AQUAPORIN 2) 107777   320
DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 304800 AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)
 304800 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 350
Deletion-Duplication: 500
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
» DIABETES INSIPIDUS, PRIMARY CENTRAL		 125700 AVP (ARGININE VASOPRESSIN, VASOPRESSIN-NEUROPHYSIN 2, ANTIDIURETIC HORMONE, ADH) 192340   250
DIABETES INSIPIDUS, PRIMARY CENTRAL   See DIABETES INSIPIDUS, NEUROHYPOPHYSEAL      
DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS 147670 INSR (INSULIN RECEPTOR) 147670   1300
DIABETES MELLITUS, KETOSIS-PRONE 612227 PAX4 (PAIRED BOX GENE 4) 167413   550
DIABETES MELLITUS, MILD JUVENILE . See MATURITY-ONSET DIABETES OF THE YOUNG      
DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM
» NDH SYNDROME		 610199 GLIS3 (GLIS FAMILY ZINC FINGER PROTEIN 3; GLI-SIMILAR PROTEIN 3; ZINC FINGER PROTEIN 515; ZNF515) 610192   1000

DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM
» DIABETES MELLITUS, TYPE 2
» NONINSULIN-DEPENDENT DIABETES MELLITUS
» MATURITY-ONSET DIABETES
» INSULIN RESISTANCE, SUSCEPTIBILITY TO

 125853  NEUROD1 (BETA2) 601724 . 300
PPARG (PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA, PPARG1, PPARG2, PPARG3,
PAX8/PPARG FUSION GENE)		 601487 Whole Gene Sequencing or 2 Mutations: P12A and P115Q Whole Gene: 500
2 Mutations: 250
DIABETES MELLITUS, PERMANENT NEONATAL 606176 ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1) 600509 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 1300
Deletion-Duplication: 350
KCNJ11 600937 . 350
DIABETES MELLITUS, TYPE 2   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM      
DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME   See MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION, MODY8      

DIAMOND-BLACKFAN ANEMIA, TYPE 1, DBA1

105650

RPS19 (RIBOSOMAL PROTEIN S19)

603474

   470

DIAMOND-BLACKFAN ANEMIA, TYPE 6, DBA6

612561

 RPL5 (RIBOSOMAL PROTEIN L5)

603634

   900

DIAMOND-BLACKFAN ANEMIA, TYPE 7, DBA7

612562

RPS19 (RIBOSOMAL PROTEIN S19)

603474

   750
DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA   See DONNAI-BARROW SYNDROME      
DIAPHYSEAL DYSPLASIA 1 . See CAMURATI-ENGELMANN DISEASE . . .
DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      

DIASTROPHIC DYSPLASIA , DTD 

222600

 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600
DIBASICAMINO ACIDURIA, TYPE 2   See LYSINURIC PROTEIN INTOLERANCE      
DIDMOAD . See WOLFRAM SYNDROME      
DIEGO BLOOD GROUP ANTIGEN 110500 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   1000
DIFFERENT DISEASES   FGFR2 176943 Whole Gene 1100
FGFR3 134934 Whole Gene 1300
DIGEORGE SYNDROME, DGS
» CATCH22
» 22q11.2 DELETION SYNDROME		 188400 TBX1 (T-BOX 1) 602054   1250
DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM   See FEINGOLD SYNDROME      
DIHYDROXYACETONEPHOSPHATE ACYLTRANSFERASE DEFICIENCY   See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, RCDP2      
DILATED CARDIOMYOPATHY       See also ACTC1, MYL2 and MYL3  
    See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1  
DILATED CARDIOMYOPATHY (X-LINKED) 302045 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA) Whole Gene: 1850
Deletions-Duplications (MLPA): 800
DILATED CARDIOMYOPATHY, 1D, CMD1D 601494 TNNT2  191045 See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 600
DILATED CARDIOMYOPATHY, 1I, CMD1I 604765 DES (DESMIN) 125660   600
DILATED CARDIOMYOPATHY, 1L, CMD1L 606685 SGCD (SARCOGLYCAN DELTA) 601411

 

 550
DILATED CARDIOMYOPATHY WITH CARDIAC CONDUCTION DEFECTS, CMD1A
 115200 LMNA (LAMIN A/C) 150330   700
DISACCHARIDE INTOLERANCE   See LACTOSE INTOLERANCE      
DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX   See FRONTOTEMPORAL DEMENTIA      
DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS   See MAY-HEGGLIN ANOMALY      
DONNAI-BARROW SYNDROME
» FACIOOCULOACOUSTICORENAL SYNDROME
» DBS/FOAR SYNDROME
» DIAPHRAGMATIC HERNIA, EXOMPHALOS, ABSENT CORPUS CALLOSUM, HYPERTELORISM, MYOPIA, SENSORINEURAL DEAFNESS, AND PROTEINURIA		 222448 LRP2 (LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN 2; GLYCOPROTEIN 330; MEGALIN) 600073   2600
DONOHUE SYNDROME   See LEPRECHAUNISM      
DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
» NOREPINEPHRINE DEFICIENCY
» NORADRENALINE DEFICIENCY		 223360 DBH (DOPAMINE BETA-HYDROXYLASE, PLASMA; DOPAMINE BETA-MONOOXYGENASE) 609312   1500
DOPA DECARBOXYLASE DEFICIENCY   See AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY      
DOPA-RESPONSIVE DYSTONIA, (AUTOSOMAL DOMINANT), DRD   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION      
DOPA-RESPONSIVE DYSTONIA (AUTOSOMAL RECESSIVE)   See SEGAWA SYNDROME (AUTOSOMAL RECESSIVE)      

DOUBLE CORTEX SYNDROME
» LISSENCEPHALY (X-LINKED)
» SUBCORTICAL LAMINAR HETEROTOPIA

 300067 DCX (DOUBLECORTIN) 300121

Whole Gene Sequencing or Deletions - Duplications

 Whole Gene Sequencing: 750
or Deletions - Duplications: 400
DOUBLE-OUTLET RIGHT VENTRICLE . See CONOTRUNCAL ANOMALY FACE SYNDROME .    
DOYNE HONEYCOMB RETINAL DYSTROPHY
» MALATTIA LEVENTINESE
» DRUSEN, RADIAL (AUTOSOMAL DOMINANT)		 126600 EFEMP1 (EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1, FIBULIN 3, FIBRILLIN-LIKE) 601548 Whole Gene Sequencing 800
DR SYNDROME   See DUANE-RADIAL RAY SYNDROME      
DRAVET SYNDROME   See SEVERE MYOCLONIC EPILEPSY OF INFANCY      
DRUSEN, RADIAL (AUTOSOMAL DOMINANT)   See DOYNE HONEYCOMB RETINAL DYSTROPHY      
DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS   See DUANE-RADIAL RAY SYNDROME      

DUANE-RADIAL RAY SYNDROME
» OKIHIRO SYNDROME
» DUANE ANOMALY WITH RADIAL RAY ABNORMALITIES AND DEAFNESS
» DR SYNDROME
» ACRORENOOCULAR SYNDROME

607323

SALL4 (SAL-LIKE 4)

 607343 Whole Gene or Deletions Whole Gene: 600
Deletions: 350
DUANE RETRACTION SYNDROME, TYPE 2 604356 CHN1 (CHIMERIN 1; MERIN, ALPHA-1 GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2; MERIN, ALPHA-1 GTPase-ACTIVATING PROTEIN, RHO, 2; ARHGAP2) 118423   690
DU PAN SYNDROME . See FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY      
DUCHENNE MUSCULAR DYSTROPHY, DMD
» MUSCULAR DYSTROPHY, DUCHENNE MUSCULAR DYSTROPHY 		310200 DMD (DYSTROPHIN) 300377 Whole Gene or Deletions-Duplications (MLPA) Whole Gene: 1850
Deletions-Duplications (MLPA): 800

DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1
» LIMB GIRDLE MUSCULAR DYSTROPHY 2C, LGMD2C
» MUSCULAR DYSTROPHY, DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1

253700 SGCG (SARCOGLYCAN GAMMA) 608896   400
DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 2, AUTOSOMAL RECESSIVE, DMDA2 . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . . .
DUNDAR SYNDROME   See EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE      
DYGGVE-MELCHIOR-CLAUSEN DISEASE 223800 DYM (DYMECLIN) 607461   800

DYSAUTONOMIA, FAMILIAL, DYS
» RILEY-DAY SYNDROME
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY, TYPE 3, HSAN3

 223900 IKBKAP (IKK COMPLEX-ASSOCIATED PROTEIN, IKAP) 603722 Whole Gene or 1 Mutation: 2507+6T>C
» (See also Molecular Screening Tests)		 Whole Gene: 2400
1 Mutation: 150
DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E
» APOLIPOPROTEIN E DEFICIENCY
» HYPERLIPOPROTEINEMIA, TYPE 3
» FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA
» FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA		 107741 APOE (APOLIPOPROTEIN E)
 107741 . 300
DYSCHONDROSTEOSIS   See LERI-WEILL DYSCHONDROSTEOSIS      
DYSCHONDROSTEOSIS, HOMOZYGOUS   See LANGER MESOMELIC DYSPLASIA      
DYSENCEPHALIA SPLANCHNOCYSTICA   See MECKEL SYNDROME, TYPE 1      
See MECKEL SYNDROME, TYPE 3      
DYSEQUILIBRIUM SYNDROME   See CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1      
DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1   See ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1      
DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA
» MACROTHROMBOCYTOPENIA (X-LINKED)		 300637 GATA1 (GATA-BINDING PROTEIN 1; ERYTHROID TRANSCRIPTION FACTOR 1, GLOBIN TRANSCRIPTION FACTOR 1) 305371   1200
DYSFIBRINOGENEMIA . See AFIBRINOGENEMIA      
DYSGENESIS MESODERMALIS CORNEAE ET SCLERAE   See BRITTLE CORNEA SYNDROME
FRAGILITAS OCULI WITH JOINT HYPEREXTENSIBILITY		      

DYSKERATOSIS CONGENITA (AUTOSOMAL DOMINANT)
» DYSKERATOSIS CONGENITA, SCOGGINS TYPE

 127550 TERC (TELOMERASE RNA COMPONENT) 602322   400

DYSKERATOSIS CONGENITA (X-LINKED), DKC
» ZINSSER-COLE-ENGMAN SYNDROME

 305000 DKC1 (DYSKERIN) 300126   1750
DYSPLASIA OLFACTOGENITALIS OF DE MORSIER   See KALLMANN SYNDROME, TYPE 1, KAL1      
DYSPROTHROMBINEMIA   See HYPOPROTHROMBINEMIA      
DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
» ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE		 224410 HSPG2 (PERLECAN, HEPARAN SULFATE PROTEOGLYCAN OF BASEMENT MEMBRANE) 142461   4400
DYSTONIA 5, DYT5   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION      
DYSTONIA 6, DYT6 602629 THAP1 (THAP DOMAIN-CONTAINING PROTEIN 1) 609520   550
DYSTONIA 8, DYT8   See PAROXYSMAL NONKINESIGENIC DYSKINESIA      
DYSTONIA 11, DYT11   See MYOCLONIC DYSTONIA      
DYSTONIA, TYPE 12, DYT12 128235 ATP1A3 (ATPase, Na+/K+ TRANSPORTING, ALPHA-3 POLYPEPTIDE; SODIUM-POTASSIUM-ATPase) 182350 Whole Gene Sequencing or 6 Exons Whole Gene: 1700
Exons: 600
DYSTONIA, ALCOHOL-RESPONSIVE   See MYOCLONIC DYSTONIA      
DYSTONIA-DEAFNESS SYNDROME   See MOHR-TRANEBJAERG SYNDROME      
DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY
» SEPIAPTERIN REDUCTASE DEFICIENCY		 182125 SPR (SEPIAPTERIN REDUCTASE) 182125   350

DYSTONIA MUSCULORUM DEFORMANS
» TORSION DYSTONIA, EARLY ONSET, DYT1

 128100 DYT1 (TOR1A, TORSIN A) 605204 GAG Deletion or Whole Gene Sequencing GAG Deletion: 250
Whole Gene: 550
DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION
» DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION
» DYSTONIA 5, DYT5
» SEGAWA SYNDROME (AUTOSOMAL DOMINANT)
» DOPA-RESPONSIVE DYSTONIA, (AUTOSOMAL DOMINANT), DRD		 128230 GCH1 (GTP CYCLOHYDROLASE 1) 600225   550
DYSTONIA-PARKINSONISM WITH DIURNAL FLUCTUATION   See DYSTONIA, PROGRESSIVE, WITH DIURNAL VARIATION      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

E
 
Disease Disease OMIM Gene Gene OMIM Comment Price in Euro
ECTODERMAL DYSPLASIA, ANHIDROTIC, TYPE 3   See ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3      
ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE
» RAPP-HODGKIN SYNDROME		 129400 TP73L (TUMOR PROTEIN p73-LIKE) 603273 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
ECTODERMAL DYSPLASIA, CLOUSTON SYNDROME .. See CLOUSTON SYNDROME      
ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 1 .. See ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1      
ECTODERMAL DYSPLASIA, ECTRODACTYLY, CLEFTING, TYPE 3 .. See ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3      
ECTODERMAL DYSPLASIA, HYPO-ANHIDROTIC (X-LINKED), ED1 305100

ED1  (ECTODYSPLASIN A, EDA)

300451

.

 900
ECTODERMAL DYSPLASIA, HYPOHIDROTIC (AUTOSOMAL RECESSIVE) . See HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE) . . .
ECTODERMAL DYSPLASIA, HYPOHIDROTIC WITH IMMUNE DEFICIENCY . See HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY . . .
ECTOPIA LENTIS 129600 FBN1 (FIBRILLIN1) 134797 Whole Gene or Deletions-Duplications

At least 20mg DNA is needed 		 Whole Gene: 1400
Deletions-Duplications: 400
ECTOPIA LENTIS, ISOLATED (AUTOSOMAL RECESSIVE) 225100 ADAMTSL4 (ADAMTS-LIKE 4; THROMBOSPONDIN REPEAT-CONTAINING 1; TSRC1) 610113   550

ECTOPIA PUPILLAE

129750

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene Sequencing or Deletion Analysis (MLPA)

 Whole Gene: 450
MLPA: 250
ECTOPIC OSSIFICATION, FAMILIAL . See OSSEOUS HETEROPLASIA, PROGRESSIVE .    

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1, EEC1
» ECTODERMAL DYSPLASIA, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 1

129900
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600

ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3, EEC3
» ECTODERMAL DYSPLASIA, ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFTING, TYPE 3

604292
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE   See EHLERS-DANLOS SYNDROME, TYPE 7 (AUTOSOMAL RECESSIVE), TYPE 7, EDS7C      
EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE   See EHLERS-DANLOS TYPE 6, EDS6      
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE
» ADDUCTED THUMB, CLUBFOOT, AND PROGRESSIVE JOINT AND SKIN LAXITY SYNDROME
» ADDUCTED THUMB-CLUBFOOT SYNDROME
» DUNDAR SYNDROME		 601776 CHST14 (CARBOHYDRATE SULFOTRANSFERASE 14;DERMATAN-4-SULFOTRANSFERASE 1; D4ST1; N-ACETYLGALACTOSAMINE 4-0 SULFOTRANSFERASE) 608429   850
EHLERS-DANLOS TYPE 1, EDS1 130000 COL1A1 120150 Only on skin fibroblast cultures for mutation analysis in proband (See note) Null Allele Detection: 650
Whole Gene Analysis: 1300
COL1A2 120160

Only on skin fibroblast cultures for mutation analysis in proband (See note)

 Whole Gene Analysis: 1300
COL1A1 and COL1A2 120150 and 120160

Only on skin fibroblast cultures for mutation analysis in proband (See note)

 Biochemical Test: 650
COL5A1 120215 Only on skin fibroblast cultures for mutation analysis in proband (See note) Null Allele Detection: 650
Whole Gene Analysis: 1250
COL5A2 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note) Whole Gene Analysis: 850
COL5A1 and COL5A2 120215 and 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note) Biochemical Test: 650
EHLERS-DANLOS TYPE 2, EDS2 130010 COL5A1 120215 Only on skin fibroblast cultures for mutation analysis in proband (See note) Null Allele Detection: 650
Whole Gene Analysis: 1250
COL5A2 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note) Whole Gene Analysis: 850
COL5A1 and COL5A2 120215 and 120190 Only on skin fibroblast cultures for mutation analysis in proband (See note) Biochemical Test: 650
EHLERS-DANLOS TYPE 4, EDS4 130050 COL3A1 120180 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Null Allele Detection: 650
Whole Gene Analysis: 1250
EHLERS-DANLOS TYPE 6, EDS6
» EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE		 225400 PLOD1 (PROCOLLAGEN-LYSINE, 2-OXOGLUTARATE 5-DIOXYGENASE; LYSYL HYDROXYLASE) 153454 Whole Gene Sequencing or Duplication Exons 10-16 Whole Gene Sequencing: 850
Duplication Exons: 350

EHLERS-DANLOS, TYPE 7, DOMINANT, EDS7

130060

COL1A1 and COL1A2

120150 and 120160

Splice site mutations exon 6

 550
EHLERS-DANLOS SYNDROME, TYPE 7 (AUTOSOMAL RECESSIVE), TYPE 7, EDS7C
» EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE		 225410 ADAMTS2 (A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 2) 604539   850
ELLIPTOCYTOSIS (MALAYSIAN-MELANESIAN TYPE, ELLIPTOCYTOSIS 4)   See HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE      
ELLIS-VAN CREVELD SYNDROME 225500 EVC 604831 . 1400
EVC2 607261 . 1500

EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT ), EDMD2

181350

 LMNA (LAMIN A/C) 150330   700
EMERY–DREYFUSS MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE ), EDMD3
 604949 LMNA (LAMIN A/C) 150330   700

EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD
» MUSCULAR DYSTROPHY, EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

310300

EMERIN (EMD)

300384

.

 500
ENCEPHALOCLASTIC PROLIFERATIVE VASCULOPATHY   See PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME      
ENCEPHALOMYOPATHY, RESPIRATORY FAILURE, AND LACTIC ACIDOSIS   See COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, COXPD3      
ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS   See AICARDI-GOUTIERES SYNDROME 1      
ENCEPHALOPATHY, FATAL INFANTILE, WITH OLIVOPONTOCEREBELLAR HYPOPLASIA   See PONTOCEREBELLAR HYPOPLASIA, TYPE 4, PCH4      
ENCEPHALOPATHY, SEVERE EPILEPTIC, WITH AUTONOMIC DYSFUNCTION   See PITT-HOPKINS SYNDROME      
ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
» ENGEL CONGENITAL MYASTHENIC SYNDROME
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1C		 603034 COLQ (COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN) 603033   1050
ENGEL CONGENITAL MYASTHENIC SYNDROME   See ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY      

ENHANCED S-CONE SYNDROME
» GOLDMANN-FAVRE SYNDROME
» RETINOSCHISIS WITH EARLY HEMERALOPIA
» FAVRE HYALOIDEORETINAL DEGENERATION

 268100 NR2E3 (NUCLEAR RECEPTOR SUBFAMILY 2, GROUP E, MEMBER 3; PHOTORECEPTOR-SPECIFIC NUCLEAR RECEPTOR; PNR) 604485   400
ENLARGED VESTIBULAR AQUEDUCT SYNDROME, EVA 603545 SLC26A4 (PENDRIN) 605646   900
ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE   See EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE   See EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE      
See EPIDERMOLYSIS BULLOSA OF HANDS AND FEET      
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
» ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES		 131750 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL (AUTOSOMAL DOMINANT)   See TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)      
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE) 		226600 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE)   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)      
EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS   See EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)      
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE
» EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE		 607600 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL
» EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT   		226650 COL17A1 (COLLAGEN, TYPE 17, ALPHA-1)
 113811   2500
ITGB4 (INTEGRIN, BETA-4) 147557   2500
LAMA3 (LAMININ, ALPHA-3) 600805 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMB3 (LAMININ, BETA-3) 150310 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMC2 (LAMININ, GAMMA-2) 150292 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMA3,
LAMB3 and
LAMC2		 6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X		 600
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, DISENTIS TYPE   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE   See EPIDERMOLYSIS BULLOSA LETALIS      
EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT    See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, PROGRESSIVE   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA JUNCTIONALIS, SEVERE NONLETHAL   See EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN      
EPIDERMOLYSIS BULLOSA LETALIS
» EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE
» HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA		 226700 LAMA3 (LAMININ, ALPHA-3) 600805 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMB3 (LAMININ, BETA-3) 150310 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMC2 (LAMININ, GAMMA-2) 150292 Whole Gene

See also LAMA3,
LAMB3 and
LAMC2		 2500
LAMA3,
LAMB3 and
LAMC2		 6 Common Mutations in 3 Genes:
LAMA3: R650X
LAMB3: R42X, Q243X, R635X,
77 BP Deletion
LAMC2: R95X		 600
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC 609638 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500
EPIDERMOLYSIS BULLOSA OF HANDS AND FEET
» WEBER-COCKAYNE TYPE EPIDERMOLYSIS BULLOSA SIMPLEX
» COCKAYNE-TOURAINE TYPE EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE		 131800 ITGB4 (INTEGRIN, BETA-4) 147557   2500
EPIDERMOLYSIS BULLOSA, PRETIBIAL 131850 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES   See EPIDERMOLYSIS BULLOSA DYSTROPHICA, DOMINANT      
EPIDERMOLYSIS BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND RECESSIVE)

604129

 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA SIMPLEX 1, EBS1   See EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE      

EPIDERMOLYSIS BULLOSA SIMPLEX (DOWLING-MEARA TYPE)

131760

KRT14 (KERATIN 14)

148066

Whole Gene

 1000

KRT5 (KERATIN 5)

148040

Whole Gene

 1000

EPIDERMOLYSIS BULLOSA SIMPLEX (KOEBNER TYPE)

131900

KRT14 (KERATIN 14)

148066

Whole Gene

 1000

KRT5 (KERATIN 5)

148040

Whole Gene

 1000
EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE
» EPIDERMOLYSIS BULLOSA SIMPLEX 1, EBS1
 131950 PLEC1 (PLECTIN 1) 601282   2500
EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS   See EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE      

EPIDERMOLYSIS BULLOSA SIMPLEX (WEBER-COCKAYNE TYPE)

131800

KRT14 (KERATIN 14)

148066

Whole Gene

 1000

KRT5 (KERATIN 5)

148040

Whole Gene

 1000
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE		 132000 COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120   3500
EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA
» APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA
» CARMI SYNDROME		 226730 ITGB4 (INTEGRIN, BETA-4) 147557   2500
ITGA6 (INTEGRIN, ALPHA-6) 147556  

1500

EPIDERMOLYTIC HYPERKERATOSIS

.

See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL

.

.

  

EPIDERMOLYTIC PALMOPLANTAR KERATODERMA
» VORNER DISEASE
» HYPERKERATOSIS, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA

144200

KRT9 (KERATIN 9)

144200

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400
EPILEPSY, BENIGN NEONATAL-INFANTILE   See SEIZURES, BENIGN FAMILIAL NEONATAL-INFANTILE      

EPILEPSY, BENIGN NEONATAL, TYPE 1
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 1

 121200

KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2)

 602235 Whole Gene and MLPA 1500
EPILEPSY, BENIGN NEONATAL, TYPE 2
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, TYPE 2		 121201 KCNQ3 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 3) 602232   1400
EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA   See MYOKYMIA WITH NEONATAL EPILEPSY      
EPILEPSY, CHILDHOOD ABSENCE, TYPE 2, ECA2 607681

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

 137164   1000
EPILEPSY, CHILDHOOD ABSENCE, TYPE 4, ECA4 611136 GABRA1 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE) 137160   1200
EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR   See EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4      
EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION   See EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 9, EIEE9      
EPILEPSY, IDIOPATHIC GENERALIZED
» EPISODIC ATAXIA, TYPE 5, EA5		 600669 CACNB4 (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT) 601949   1300
EPILEPSY, INFANTILE SPASMS (X-LINKED)   See INFANTILE SPASMS (X-LINKED), ISS X      
EPILEPSY, JUVENILE ABSENCE 607631 CLCN2 600570   1900
EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, TYPE 1 607631 EFHC1 (EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1; MYOCLONIN 1) 608815   800
EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME		 606904 CACNB4 (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT) 601949   1300
CLCN2 600570   1900
GABRA1 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE) 137160   1200
EPILEPSY, LATERAL TEMPORAL LOBE (AUTOSOMAL DOMINANT), ADLTE
» EPILEPSY, PARTIAL, WITH AUDITORY FEATURES, ADPEAF		 600512 LGI1 (LEUCINE-RICH GENE, GLIOMA-INACTIVATED, 1; EPITEMPIN) 604619   750
EPILEPSY, MYOCLONIC JUVENILE
» JANZ SYNDROME
» PETIT MAL, IMPULSIVE		 254770 EFHC1 (EF-HAND DOMAIN (C-TERMINAL)-CONTAINING PROTEIN 1; MYOCLONIN 1) 608815   800
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 600513

CHRNA4 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 4, ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-4 SUBUNIT)

 118504   900
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 605375 CHRNB2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2) 118507    900
EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4
» EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR		 610353 CHRNA2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT) 118502    1000
EPILEPSY, PARTIAL, WITH AUDITORY FEATURES, ADPEAF   See EPILEPSY, LATERAL TEMPORAL LOBE (AUTOSOMAL DOMINANT), ADLTE      

EPILEPSY, PROGRESSIVE MYOCLONUS
» UNVERRICH-LUNDBORG DISEASE

254800

CSTB (CYSTATIN B, STEFIN B)

601145

Repeat

 500
EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2   See MYOCLONIC EPILEPSY OF LAFORA      
EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION   See CEROID LIPOFUCSINOSIS, CLN8      
EPILEPSY, PYRIDOXINE-DEPENDENT, EPD
» AASA DEHYDROGENASE DEFICIENCY		 266100 ALDH7A1 (ATQ1; ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ANTIQUITIN; ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE) 107323   550
EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING 607628 CLCN2 600570   1900
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 3, EIEE3 609304 SLC25A22 (SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, GLUTAMATE), MEMBER 22; GLUTAMATE CARRIER 1; GC1) 609302   800
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 4, EIEE4 612164 STXBP1 (SYNTAXIN-BINDING PROTEIN 1; MUNC18-1) 602926   1700
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 9, EIEE9
» JUBERG-HELLMAN SYNDROME
» EPILEPSY, FEMALE-RESTRICTED, WITH MENTAL RETARDATION		 300088 PCDH19 (PROTOCADHERIN 19; KIAA1313) 300460   1250
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 10, EIEE10 613402 PNKP (POLYNUCLEOTIDE KINASE 3-PRIME PHOSPHATASE; DNA KINASE) 605610   1350
EPILEPTIC ENCEPHALOPATHY, NEONATAL, PNPO-RELATED   See PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY      
EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 2, EDM2 600204 COL9A2 (COLLAGEN, TYPE 9, ALPHA-2) 120260   2000
EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 4, EDM4
» MULTIPLE EPIPHYSEAL DYSPLASIA (AUTOSOMAL RECESSIVE)		 226900 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718   600
EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 6, EDM6 120210 COL9A1 (COLLAGEN, TYPE 9, ALPHA-1; CARTILAGE-SPECIFIC SHORT COLLAGEN) 120210   2400

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
» MED-IDDM SYNDROME
» IDDM-MED SYNDROME
» WOLCOTT-RALLISON SYNDROME

 226980

EIF2AK3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2-ALPHA KINASE 3)

 604032    690
EPISKOPI BLINDNESS   See NORRIE DISEASE       
EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED   See EPISODIC ATAXIA, TYPE 2, EA2      
EPISODIC ATAXIA, TYPE 1, EA1
» EPISODIC ATAXIA WITH MYOKYMIA
» ATAXIA, EPISODIC, WITH MYOKYMIA
» PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY
» MYOKYMIA WITH PERIODIC ATAXIA
» MYOKYMIA
» CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY
» ISAACS-MERTENS SYNDROME		 160120 KCNA1 (POTASSIUM CHANNEL, VOLTAGE-GATED, SHAKER-RELATED SUBFAMILY, MEMBER 1)
 176260    250
EPISODIC ATAXIA, TYPE 2, EA2
» ATAXIA, EPISODIC, WITH NYSTAGMUS
» EPISODIC ATAXIA, NYSTAGMUS-ASSOCIATED
» CEREBELLOPATHY, HEREDITARY PAROXYSMAL
ATAXIA
» FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE
» HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA
» CEREBELLAR ATAXIA, PAROXYSMAL, ACETAZOLAMIDE-RESPONSIVE		 108500 CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) 601011   1200
EPISODIC ATAXIA, TYPE 5, EA5   See EPILEPSY, IDIOPATHIC GENERALIZED      
EPISODIC ATAXIA WITH MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1      
EPSTEIN SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS
» ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA
 153650 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1400
EROSIVE VITREORETINOPATHY   See WAGNER SYNDROME, TYPE 1      
ERYTHERMALGIA, PRIMARY 133020 SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT) 603415   900
ERYTHROCYTOSIS, STOMATOCYTIC HEREDITARY   See HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE      

ERYTHROKERATODERMIA VARIABILIS, EKV

133200

GJB3 (CONNEXIN 31, CX31)

603324

Whole Gene Sequencing GJB3 and GJB4

 750

GJB4 (CONNEXIN 30.3, CX30.3)

605425

Whole Gene Sequencing GJB3 and GJB4

 750

ESCOBAR SYNDROME
» MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT
» MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE
» PTERYGIUM COLLI SYNDROME
» PTERYGIUM UNIVERSALE

265000

 CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE) 100730   650
ETFA DEFICIENCY   MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD      
ETHYLMALONIC-ADIPICACIDURIA   MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD      
EXOMPHALOS-MACROGLOSSIA-GIGANTISM SYNDROME   See BECKWITH-WIEDEMANN SYNDROME, BWS      
EXUDATIVE RETINOPATHY (X-LINKED)   See NORRIE DISEASE       
EXUDATIVE VITREORETINOPATHY, TYPE 1
» CRISWICK-SCHEPENS SYNDROME
» RETINOPATHY OF PREMATURITY		 133780 FZD4 (FRIZZLED, DROSOPHILA, HOMOLOG OF, 4) 604579   500
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

F

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro

FABRY DISEASE

301500

GLA (GALACTOSIDASE)

301500

Whole Gene or Deletion-Duplication

 Whole Gene: 500
Deletion-Duplication: 350
FACIOCUTANEOSKELETAL SYNDROME   See COSTELLO SYNDROME      

FACIODIGITOGENITAL SYNDROME

.

See AARSKOG SYNDROME

.

.

  
FACIOOCULOACOUSTICORENAL SYNDROME   See DONNAI-BARROW SYNDROME      
FACIOPALATOOSSEOUS SYNDROME   See OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2      

FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD
» LANDOUZY-DEJERINE MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD
» MUSCULAR DYSTROPHY, LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

158900

FSHD

158900

Repeat

At least 10ml EDTA Blood

950
FACTOR V DEFICIENCY
» OWREN PARAHEMOPHILIA
» LABILE FACTOR DEFICIENCY		 227400 F5 (COAGULATION FACTOR 5; FACTOR 5 LEIDEN; APC COFACTOR) 612309   1500

FACTOR VII DEFICIENCY
» HYPOPROCONVERTINEMIA

 227500

F7 (FACTOR 7, COAGULATION FACTOR 7)

 227500   1450
FACTOR X DEFICIENCY
» STUART-PROWER FACTOR DEFICIENCY		 227600 F10 (COAGULATION FACTOR 10) 227600   1100
FAH DEFICIENCY   See TYROSINEMIA, TYPE 1      
FAMILIAL AORTIC ANEURYSM   FBN1 (FIBRILLIN1) 134797 Whole Gene or Deletions-Duplications

At least 20mg DNA is needed 		 Whole Gene: 1400
Deletions-Duplications: 400

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME

.

See COLD URTICARIA

.

.

  
FAMILIAL DYSAUTONOMIA, TYPE 2   See INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA      
FAMILIAL FATAL INSOMNIA   See INSOMNIA-DYSAUTONOMIA      
FAMILIAL FOCAL SEGMENTAL GLOMERULOSCLEROSIS (AUTOSOMAL RECESSIVE)   See NEPHROTIC SYNDROME, STEROID-RESISTANT, (AUTOSOMAL RECESSIVE), SRN1      
FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      
FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      
FAMILIAL HYPOBETALIPOPROTEINEMIA   See HYPOBETALIPOPROTEINEMIA, FAMILIAL      
FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2   See PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PPSH      
FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ
» GOUTY NEPHROPATHY		 162000 UMOD (UROMODULIN) 191845   700

FAMILIAL MEDITERRANEAN FEVER, FMF

249100

MEFV

249100

Exons 2,3,5 and 10 harbouring 98% of all mutations or Whole Gene

 Exons 2,3,5 and 10: 350
Whole Gene: 750
FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 602481 ATP1A2 182340 Whole Gene or 2 Mutations: L764P and W887R Whole Gene: 850
2 Mutations: 300
FAMILIAL PAROXYSMAL
ACETAZOLAMIDE-RESPONSIVE		   See EPISODIC ATAXIA, TYPE 2, EA2      
FAMILIAL RECURRENT ARTHRITIS   See PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE      

FAMILIAL SPASTIC PARAPLEGIA 1 (X-LINKED), SPG1

312900

L1 (L1CAM)

308840

.

 900

FAMILIAL SPASTIC PARAPLEGIA 2 ( X-LINKED), SPG2 

312920

PLP1 (PROTEOLIPID PROTEIN 1, PLP)

300401

Whole Gene or Duplication

Preferably EDTA-blood

 Whole Gene: 650
Duplication: 350

FAMILIAL SPASTIC PARAPLEGIA 3 (AUTOSOMAL DOMINANT), SPG3A, FSP1
» STRUMPELL DISEASE

182600

SPG3A (ATLASTIN)

606439

.

 1000

FAMILIAL SPASTIC PARAPLEGIA 4 (AUTOSOMAL DOMINANT), SPG4, FSP2

182601

SPG4 (SPASTIN, SPAST)

604277.

.

 1000
FAMILIAL SPASTIC PARAPLEGIA 6 (AUTOSOMAL DOMINANT), SPG6 600363

NIPA1 (NONIMPRINTED GENE IN PRADER-WILLI SYNDROME/ANGELMAN SYNDROME CHROMOSOME REGION 1)

 608145 Whole Gene 900
FAMILIAL SPASTIC PARAPLEGIA 7 (AUTOSOMAL RECESSIVE), SPG7, FSP7

607259

 SPG7 (PARAPLEGIN)
 602783  . 900
FAMILIAL SPASTIC PARAPLEGIA 8 (AUTOSOMAL DOMINANT), SPG8 603563 KIAA0196 (STRUMPELLIN) 610657   2200

FAMILIAL SPASTIC PARAPLEGIA 10 (AUTOSOMAL DOMINANT), SPG10

604187

KIF5A (KINESIN FAMILY MEMBER 5A)

602821.

Whole Gene

 1000
FAMILIAL SPASTIC PARAPLEGIA 11 (AUTOSOMAL RECESSIVE), SPG11 604360 KIAA1840 (SPATACSIN) 610844   2400
FAMILIAL SPASTIC PARAPLEGIA 15 (AUTOSOMAL RECESSIVE), SPG15
» SPASTIC PARAPLEGIA AND RETINAL DEGENERATION

270700

 ZFYVE26 (ZINC FINGER FYVE DOMAIN-CONTAINING PROTEIN 26; SPASTIZIN) 612012   2800
FAMILIAL SPASTIC PARAPLEGIA 17, SPG17
» SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET
» SILVER SYNDROME
» SILVER SPASTIC PARAPLEGIA SYNDROME
» SPINAL MUSCULAR ATROPHY, DISTAL, TYPE 5, DSMA5		 270685 BSCL2 (SEIPIN) 606158   690
FAMILIAL SPASTIC PARAPLEGIA 20 (AUTOSOMAL RECESSIVE), SPG20
» TROYER SYNDROME
» SPASTIC PARAPARESIS, CHILDHOOD-ONSET, WITH DISTAL MUSCLE WASTING		 275900 SPG20 (SPARTIN) 607111   950
SPASTIC PARAPLEGIA WITH AMYOTROPHY OF HANDS AND FEET   See FAMILIAL SPASTIC PARAPLEGIA 17, SPG17      
FANCONI ANEMIA
» FANCONI PANCYTOPENIA		 227650 FANCA 607139 Whole Gene, 14 Exons: Exons 1, 6, 7, 8, 11, 15, 16, 17, 19, 20, 32, 39, 42, 43, representing 25% of reported mutations or 8 Exons: Exons 13, 27, 29, 34-38, representing 67% of reported mutations Whole Gene: 5000
14 Exons: 1500
8 Exons: 1000

FANCONI ANEMIA, COMPLEMENTATION GROUP C
» FANCONI PANCYTOPENIA, TYPE 3
» (See also Molecular Screening Tests)

227645

FANCC

227645

1 Mutation: IVS4+4A-G

 150
FANCONI ANEMIA, COMPLEMENTATION GROUP N, FANCN 610832 PALB2 (PARTNER AND LOCALIZER OF BRCA2; FANCN) 610355   880
FANCONI-BICKEL SYNDROME
» HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME
» GLYCOGENOSIS, FANCONI TYPE
» GLYCOGEN STORAGE DISEASE, TYPE 11		 227810 SLC2A2 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 2) 138160   700
FANCONI PANCYTOPENIA   See FANCONI ANEMIA      
FARABEE TYPE BRACHYDACTYLY . See BRACHYDACTYLY A1, BDA1 . . .
FARBER LIPOGRANULOMATOSIS
» CERAMIDASE DEFICIENCY
» N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY		 228000 ASAH1 (N-ACYLSPHINGOSINE AMIDOHYDROLASE 1; N-ACYLSPHINGOSINE DEACYLASE; ACID CERAMIDASE) 613468   Upon Request
FAVRE HYALOIDEORETINAL DEGENERATION   See ENHANCED S-CONE SYNDROME      
FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES   See GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+      
FECHTNER SYNDROME
» MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS
» ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA		 153640 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1400

FEINGOLD SYNDROME
» OCULODIGITOESOPHAGODUODENAL SYNDROME
» ODED SYNDROME
» MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME
» DIGITAL ANOMALIES WITH SHORT PALPEBRAL FISSURES AND ATRESIA OF ESOPHAGUSOR DUODENUM
» MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME
» MMT SYNDROME

 164280

MYCN (V-MYC AVIAN MYELOCYTOMATOSIS VIRAL-RELATED ONCOGENE, NEUROBLASTOMA-DERIVED)

 164840 Whole Gene or Deletions Whole Gene: 800
Deletions: 350
FELLMAN SYNDROME . See GRACILE SYNDROME      
FETAL AKINESIA DEFORMATION SEQUENCE
» PENA-SHOKEIR SYNDROME, TYPE 1
» ARTHROGRYPOSIS MULTIPLEX CONGENITA WITH PULMONARY HYPOPLASIA		 208150 RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD) 601562   750
FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY   See TIGHT SKIN CONTRACTURE SYNDROME, LETHAL      
FG SYNDROME, TYPE 1   See OPITZ-KAVEGGIA SYNDROME      
FG SYNDROME, TYPE 4 300422 CASK (CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; VERTEBRATE LIN2 HOMOLOG; CAMGUK, DROSOPHILA, HOMOLOG OF)  300172   1800
FIBER-TYPE DISPROPORTION MYOPATHY, CONGENITAL, CFTDM   See NEMALINE MYOPATHY 1, NEM1      
FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FOP 135100 ACVR1 (ACTIVIN A RECEPTOR, TYPE 1; ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2) 102576 c.617G>A (Arg206His) 350
FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS . See BIRT-HOGG-DUBE SYNDROME, BHD .    
FIBROMATOSIS, GINGIVAL, TYPE 1 135300 SOS1 (SON OF SEVENLESS, DROSOPHILA, HOMOLOG 1) 308700   1200
FIBROMUSCULAR DYSPLASIA 135580 COL3A1 120180 Only on skin fibroblast cultures for mutation analysis in proband (See note) Bio: 600
Null Allele Detection: 650
Whole Gene Analysis: 1250

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 1, FEOM1, CFEOM3
» OPHTHALMOPLEGIA, CONGENITAL
» BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS

135700

 

KIF21A (KINESIN FAMILY MEMBER 21A)

608283

Hot Spots (Exons 2, 8, 20, 21)

 300

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE2, FEOM2, CFEOM2

602078

ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)

602753

.

 250

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3, FEOM3, CFEOM3

600638

KIF21A (KINESIN FAMILY MEMBER 21A)

608283

Hot Spots (Exons 2, 8, 20, 21)

 300
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, TYPE 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT 600638 TUBB3 (TUBULIN, BETA-3; TUBB4) 602661   690

FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY
» FUHRMANN SYNDROME

 228930

WNT7A (WINGLESS-TYPE MMTV INTEGRATION SITE FAMILY, MEMBER 7A)

   601570   600

FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
» DU PAN SYNDROME

228900

GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)

601146

.

 900
FIGLU-URIA   See FORMIMINOTRANSFERASE DEFICIENCY      
FINNISH CONGENITAL NEPHROSIS   See NEPHROSIS 1, CONGENITAL, FINNISH TYPE, NPHS1      
FINNISH LETHAL NEONATAL METABOLIC SYNDROME . See GRACILE SYNDROME      

FISH-EYE DISEASE

136120

LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE)

606967

.

 450

FISH-ODOR SYNDROME
» TRIMETHYLAMINURIA

602079

FMO3 (FLAVIN - CONTAINING MONOOXYGENASE 3)

136132

.

 500
FOCAL DERMAL HYPOPLASIA
» GOLTZ SYNDROME
» GOLTZ-GORLIN SYNDROME

305600

 PORCN (PORCUPINE, DROSOPHILA, HOMOLOG OF) 300651   1100
FOCAL SEGMENTAL GLOMERULOSCLEROSIS NPHS2, TRPC6, ACTN4 and CD2AP     2200
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 603278 ACTN4 (ACTININ, ALPHA-4) 604638  

1250
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 2 603965 TRPC6 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY C, MEMBER 6) 603652   800
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 607832 CD2AP (CD2-ASSOCIATED PROTEIN) 604241   1150
FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 5 613237 INF2 (INVERTED FORMIN 2) 610982   1250
FORAMINA PARIETALIA PERMAGNA   See PARIETAL FORAMINA, TYPE 1      
  See PARIETAL FORAMINA, TYPE 2      
FORBES DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 3      
FORMIMINOGLUTAMIC ACIDURIA   See FORMIMINOTRANSFERASE DEFICIENCY      
FORMIMINOTRANSFERASE DEFICIENCY
» GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
» FORMIMINOGLUTAMIC ACIDURIA
» FIGLU-URIA		 229100 FTCD (FORMIMINOTRANSFERASE CYCLODEAMINASE) 606806   1200
FORSIUS-ERIKSSON TYPE OCULAR ALBINISM   See ALAND ISLAND EYE DISEASE      

FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME

136520

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene Sequencing or Deletion Analysis (MLPA)

 Whole Gene: 450
MLPA: 250
FOVEOMACULAR DYSTROPHY, ADULT-ONSET   See MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET      
FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH CHOROIDAL NEOVASCULARIZATION   See VITELLIFORM MACULAR DYSTROPHY, ADULT-ONSET      

FRAGILE E SYNDROME, FRAXE

309548

FMR2

309548

Repeat

 250
FRAGILE F SYNDROME 300031 FRAXF (FRAGILE SITE F) 300031 Repeat 180

FRAGILE X SYNDROME, FRAXA

309550

FMR1

309550

Whole Gene Sequencing or Repeat - At least 20mg DNA with a concentration higher than 300 nanogram per microliter is needed

 Whole Gene Sequencing: 1050
Repeat: 400

FRASER SYNDROME
» CRYPTOPHTHALMOS WITH OTHER MALFORMATIONS
» CRYPTOPHTHALMOS-SYNDACTYLY SYNDROME

 219000

FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2)

 608945  Exon 6 250

FRASIER SYNDROME

136680

WT1 (WILMS TUMOR 1 GENE)

607102

Whole Gene Sequencing or Deletion-Duplication Testing

 Whole Gene: 550
Deletion-Duplication: 400
FREEMAN-SHELDON SYNDROME   See ARTHROGRYPOSIS, DISTAL, TYPE 2A      
FREEMAN-SHELDON SYNDROME VARIANT   See ARTHROGRYPOSIS, DISTAL, TYPE 2B      

FRIEDREICH ATAXIA, FRDA

229300

FRDA (FRATAXINE)

606829

Whole Gene or Repeat

Whole Gene: 450
Repeat: 250
FRONTOMETAPHYSEAL DYSPLASIA 305620 FLNA (FILAMIN A) 300017 Exons 22, 29 360

FRONTOTEMPORAL DEMENTIA
» MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA
» DISINHIBITION-DEMENTIA-PARKINSONISM-AMYOTROPHY COMPLEX
» WILHELMSEN-LYNCH DISEASE
» FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS
» PALLIDOPONTONIGRAL DEGENERATION

 600274

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   		 157140 Whole Gene  1500
FRONTOTEMPORAL DEMENTIA-AMYOTROPHIC LATERAL SCLEROSIS   See FRONTOTEMPORAL DEMENTIA      
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED, FTD3 600795 CHMP2B (CHMP FAMILY, MEMBER 2B; CHROMATIN-MODIFYING PROTEIN 2B; CHARGED MULTIVESICULAR BODY PROTEIN 2B; VACUOLAR PROTEIN SORTING 2, YEAST, HOMOLOG OF, B; VPS2B) 609512   600

FRONTOTEMPORAL DEMENTIA, UBIQUITIN-POSITIVE
» DEMENTIA, HEREDITARY DYSPHASIC DISINHIBITION

 607485

GRN (GRANULIN, PROGRANULIN,
EPITHELIN)

 138945 Whole Gene Sequencing or Deletions Whole Gene: 850
Deletions: 400
FRUCTOSE INTOLERANCE
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
» ALDOLASE B DEFICIENCY		 229600 ALDOB (ALDOLASE B) 229600 Whole Gene or 3 Common Mutations: A149P, A174D, N334K Whole Gene: 750
3 Mutations: 150
FRUCTOSEMIA   See FRUCTOSE INTOLERANCE      
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY 229700 FBP1 (FRUCTOSE-1,6-BISPHOSPHATASE 1) 611570   650
FRUCTOSE-1-PHOSPHATE   See FRUCTOSE INTOLERANCE      
FUCOSIDOSIS
» ALPHA-L-FUCOSIDASE DEFICIENCY 		230000 FUCA1 (ALPHA-L-FUCOSIDASE) 230000   850
FUHRMANN SYNDROME   See FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY      
FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION
» MICROPOLYGYRIA WITH MUSCULAR DYSTROPHY
» CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE		 253800 FKTN (FUKUTIN; FCMD) 607440   700
FUMARASE DEFICIENCY 606812 FH (FUMARATE HYDRATASE, FUMARASE) 136850   950
FUMARIC ACIDURIA   See FUMARASE DEFICIENCY      
FUMARYLACETOACETASE DEFICIENCY   See TYROSINEMIA, TYPE 1      
FUNDUS ALBIPUNCTATUS
» RETINITIS PUNCTATA ALBESCENS		 136880 PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605   400

RDH5 (RETINOL DEHYDROGENASE 5)

 601617   400
RLBP1 (RETINALDEHYDE-BINDING PROTEIN 1; CELLULAR RETINALDEHYDE-BINDING PROTEIN; CRALBP) 180090   400

FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
» SORSBY SYNDROME

 136900

TIMP3 (TISSUE INHIBITOR OF METALLOPROTEINASE 3)

 188826    800
FUNDUS FLAVIMACULATUS   See STARGARDT DISEASE, TYPE 1      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

G

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro

G6PD DEFICIENCY
» GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

305900

G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE)

305900

   495
GALACTOCEREBROSIDASE DEFICIENCY   See KRABBE DISEASE      
GALACTOKINASE DEFICIENCY
» GALK DEFICIENCY
» GALACTOSEMIA TYPE 2
» GALACTOKINASE DEFICIENCY WITH CATARACT

230200 

 GALK1 (GALACTOKINASE 1) 604313  . 650
GALACTOKINASE DEFICIENCY WITH CATARACT   See GALACTOKINASE DEFICIENCY      
GALACTOSAMINE-6-SULFATASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A      
GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY . See GALACTOSEMIA TYPE 1 . . .
GALACTOSE EPIMERASE DEFICIENCY
» GALE DEFICIENCY
» GALACTOSEMIA, TYPE 3
» UDP-GALACTOSE-4-EPIMERASE DEFICIENCY		 230350 GALE (UDP-GALACTOSE-4-EPIMERASE; GALACTOSE EPIMERASE) 606953   850
GALACTOSEMIA TYPE 1
» GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE DEFICIENCY
 230400 GALT (GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE) 606999 Whole Gene Sequencing 1000
GALACTOSEMIA TYPE 2   See GALACTOKINASE DEFICIENCY      
GALACTOSEMIA, TYPE 3   See GALACTOSE EPIMERASE DEFICIENCY      
GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY   See KRABBE DISEASE      
GALE DEFICIENCY   See GALACTOSE EPIMERASE DEFICIENCY      
GALK DEFICIENCY   See GALACTOKINASE DEFICIENCY      
GAMT DEFICIENCY   See GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY      
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1   See GM1-GANGLIOSIDOSIS, TYPE 1      
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2   See GM1-GANGLIOSIDOSIS, TYPE 2      
GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3   See GM1-GANGLIOSIDOSIS, TYPE 3      
GANGLIOSIDOSIS, GENERALIZED GM2, TYPE 1   See TAY-SACHS DISEASE      
GASTRIC CANCER, FAMILIAL DIFFUSE 137215

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 Whole Gene or Deletion-Duplication Whole Gene: 840
Deletion-Duplication: 600
GAUCHER DISEASE DUE TO SAP2 DEFICIENCY   See METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY      

GAUCHER DISEASE, TYPE 1
» (See also Molecular Screening Tests)

230800

GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene Sequencing or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

 Whole Gene: 900
6 Mutations: 150

GAUCHER DISEASE, TYPE 2
» (See also Molecular Screening Tests)

230900

GBA (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene Sequencing or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

 Whole Gene: 900
6 Mutations: 150

GAUCHER DISEASE, TYPE 3
» (See also Molecular Screening Tests)

231000

GBA  (GLUCOSIDASE, GLUCOCEREBROSIDASE)

606463

Whole Gene Sequencing or 6 Mutations: 84GG, IVS2+1, N370S, 1297T, L444P, V394L

 Whole Gene: 900
6 Mutations: 150
GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS
» OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS 

607313

 ROBO3 (ROUNDABOUT, DROSOPHILA, HOMOLOG OF, 3; RB-INHIBITING GENE 1; RBIG1; RIG1) 608630   1090
GCH DEFICIENCY   See GTP CYCLOHYDROLASE 1 DEFICIENCY      
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+
» GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2
» FEBRILE SEIZURES ASSOCIATED WITH AFEBRILE SEIZURES		 604233 GABRD (GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA;GABA-A RECEPTOR, DELTA POLYPEPTIDE) 137163   900

GABRG2 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, GAMMA-2)

 137164   1000
SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 Whole Gene and Deletions-Duplications 1750

SCN1B (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 1, BETA SUBUNIT)

 600235   700
SCN2A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE 2, ALPHA SUBUNIT) 182390   2200
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2, GEFS+, TYPE 2   See GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, GEFS+      
GERMAN TYPE AMYLOIDOSIS   See AMYLOIDOSIS, FAMILIAL VISCERAL      
GERODERMA OSTEODYSPLASTICUM
» WALT DISNEY DWARFISM
» GERODERMIA OSTEODYSPLASTICA		 231070 GORAB (GOLGIN, RAB6-INTERACTING; SCYL1-BINDING PROTEIN 1; SCYLBP1; NTKL-BINDING PROTEIN 1; NTKLBP1) 607983   850
GERODERMIA OSTEODYSPLASTICA   See GERODERMA OSTEODYSPLASTICUM      
GERSTMANN-STRAUSSLER DISEASE, GSD 137440 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 450
GIANT AXONAL NEUROPATHY 1
» NEUROPATHY, GIANT AXONAL (AUTOSOMAL RECESSIVE)		 256850 GAN (GAN GENE, GIGAXONIN) 605379   850
GIANT CELL CHONDRODYSPLASIA   See ATELOSTEOGENESIS, TYPE 1      
GIANT PLATELET SYNDROME   See BERNARD-SOULIER SYNDROME      

GILBERT SYNDROME

143500

UGT1A1 (UDP-GLYCURONOSYL TRANSFERASE)

191740

1 Mutation: TA insertion in promotor

 250
GITELMAN SYNDROME
» HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
» POTASSIUM AND MAGNESIUM DEPLETION		 263800 SLC12A3 (SOLUTE CARRIER FAMILY 12, SODIUM/CHLORIDE TRANSPORTER, MEMBER 3, THIAZIDE-SENSITIVE NA-CL COTRANSPORTER) 600968  Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 1300
Deletion-Duplication: 350
GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET, POAG 137760 

OPTN (OPTINEURIN)

 602432   Upon Request

WDR36 (WD40-REPEAT 36)

 .   800
GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1 137750 MYOC (MYOCILIN)

 

601652   600
GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A
» BUPHTHALMOS		 231300  CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1) 601771   550
GLOBOID CELL LEUKODYSTROPHY   See KRABBE DISEASE      
GLOMUS TUMORS   See PARAGANGLIOMAS, PGL      

GLOMUS TUMORS, TYPE 1

.

See PARAGANGLIOMAS, PGL1

 .

.

  
GLOMUS TUMORS, TYPE 2   See PARAGANGLIOMAS, PGL2      
GLOMUS TUMORS, TYPE 3  

See PARAGANGLIOMAS, PGL3

      
GLOMUS TUMORS, TYPE 4   See PARAGANGLIOMAS, PGL4      
GLUCOCORTICOID DEFICIENCY 1
» ADRENAL UNRESPONSIVENESS TO ACTH
» ACTH RESISTANCE
 202200 MC2R (MELANOCORTIN 2 RECEPTOR; ACTH RECEPTOR) 607397   450
GLUCOCORTICOID DEFICIENCY 2 607398 MRAP (MELANOCORTIN 2 RECEPTOR ACCESSORY PROTEIN)
 609196   750
GLUCOCORTICOID DEFICIENCY AND ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
GLUCOCORTICOID RECEPTOR DEFICIENCY
» GLUCOCORTICOID RESISTANCE
» CORTISOL RESISTANCE FROM GLUCOCORTICOID RECEPTOR DEFECT
» PSEUDOHERMAPHRODITISM WITH HYPOKALEMIA DUE TO GLUCOCORTICOID RESISTANCE		 138040 NR3C1 138040 . 650
GLUCOCORTICOID RESISTANCE   See GLUCOCORTICOID RECEPTOR DEFICIENCY      
GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY   See G6PD DEFICIENCY      
GLUCOSE/GALACTOSE MALABSORPTION
» MONOSACCHARIDE MALABSORPTION		 606824 SLC5A1 (SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1;SOLUTE CARRIER FAMILY 5 (SODIUM/GLUCOSE COTRANSPORTER), MEMBER 1 182380   690
GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER
» GLUT1 DEFICIENCY SYNDROME		 606777 SLC2A1 (SOLUTE CARRIER FAMILY 2 (FACILITATED GLUCOSE TRANSPORTER), MEMBER 1; GLUT1; ERYTHROCYTE/HEPATOMA GLUCOSE TRANSPORTER) 138140 Whole Gene or Deletion-Duplication Whole Gene: 900
Deletion-Duplication: 600

GLUCOSIDASE DEFICIENCY

.

See GAUCHER DISEASE

.

.

  
GLUCOSIDASE 1 DEFICIENCY   See CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2B, CDG2B      
GLUT1 DEFICIENCY SYNDROME   See GLUCOSE TRANSPORT DEFECT, BLOOD-BRAIN BARRIER      
GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY   See FORMIMINOTRANSFERASE DEFICIENCY      

GLUTARIC ACIDURIA, TYPE 1

231670

GCDH (GLUTARYL COA DEHYDROGENASE)

231670

.

 500
GLUTARIC ACIDURIA, TYPE 2   MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD      
GLUTARIC ACIDURIA, TYPE 3
» GLUTARYL-CoA OXIDASE DEFICIENCY		 231690 C7ORF10 (CHROMOSOME 7 OPEN READING FRAME 10) 609187   900
GLUTARYL-CoA OXIDASE DEFICIENCY   See GLUTARIC ACIDURIA, TYPE 3      
GLYCERIC ACIDURIA   See HYPEROXALURIA, PRIMARY, TYPE 2      
GLYCERONEPHOSPHATE O-ACYLTRANSFERASE DEFICIENCY   See RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, RCDP2      
GLYCINE ENCEPHALOPATHY   See NONKETOTIC HYPERGLYCINEMIA      
GLYCINEMIA, KETOTIC   See PROPIONIC ACIDEMIA      
GLYCOGEN DEBRANCHER DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 3      
GLYCOGENOSIS, FANCONI TYPE   See FANCONI-BICKEL SYNDROME      
GLYCOGENOSIS, GENERALIZED, CARDIAC FORM   See GLYCOGEN STORAGE DISEASE, TYPE 2      
GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)   See GLYCOGEN STORAGE DISEASE, TYPE 9C      
GLYCOGEN PHOSPHORYLASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 6      
GLYCOGEN STORAGE CARDIOMYOPATHY   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
GLYCOGEN STORAGE DISEASE OF HEART   See GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL      

GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
» PHOSPHORYLASE KINASE DEFICIENCY OF HEART
» GLYCOGEN STORAGE DISEASE OF HEART

 261740 PRKAG2 (PROTEIN KINASE, AMP-ACTIVATED, NONCATALYTIC, GAMMA-2, AMP-ACTIVATED PROTEIN KINASE, NONCATALYTIC, GAMMA-2
AMPK-GAMMA-2)		 602743   650

GLYCOGEN STORAGE DISEASE, TYPE 0
» GSD TYPE 0
» LIVER GLYCOGEN SYNTHASE DEFICIENCY

 240600

GYS2 (GLYCOGEN SYNTHASE 2)

 138571   1200

GLYCOGEN STORAGE DISEASE, TYPE 1A
 » GSD TYPE 1A
» VON GIERKE SYNDROME 

232200

G6PC (GLUCOSE-6-PHOSPHATASE)

232200

 

 650
GLYCOGEN STORAGE DISEASE, TYPE 1B
» GSD TYPE 1B		 232220 SLC37A4 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1; G6PT1; GLUCOSE-6-PHOSPHATE TRANSLOCASE) 602671   800
GLYCOGEN STORAGE DISEASE, TYPE 2
» GSD TYPE 2
» ACID ALPHA-GLUCOSIDASE DEFICIENCY
» POMPE DISEASE
» GLYCOGENOSIS, GENERALIZED, CARDIAC FORM
» CARDIOMEGALIA GLYCOGENICA DIFFUSA
» ACID MALTASE DEFICIENCY
» ALPHA-1,4-GLUCOSIDASE DEFICIENCY		 232300 GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) 606800   1600

GLYCOGEN STORAGE DISEASE, TYPE 2B
» GSD TYPE 2B
» VACUOLAR CARDIOMYOPATHY AND MYOPATHY (X-LINKED)
» LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY
» GLYCOGEN STORAGE CARDIOMYOPATHY
» PSEUDOGLYCOGENOSIS 2
GLYCOGEN STORAGE DISEASE LIMITED TO THE HEART
» ANTOPOL DISEASE
» DANON DISEASE

300257

LAMP2 (LYSOSOME-ASSOCIATED MEMBRANE PROTEIN 2)

309060   600
GLYCOGEN STORAGE DISEASE, TYPE 3
» GSD TYPE 3
» FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY		 232400 AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) 610860   2100
GLYCOGEN STORAGE DISEASE, TYPE 4
» GSD TYPE 4
» GLYCOGEN BRANCHING ENZYME DEFICIENCY
» GBE1 DEFICIENCY
» ANDERSEN DISEASE
» BRANCHER DEFICIENCY
» GLYCOGENOSIS 4
» AMYLOPECTINOSIS		 232500 GBE1 (GLYCOGEN BRANCHING ENZYME) 607839 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600

GLYCOGEN STORAGE DISEASE, TYPE 5
» GSD TYPE 5
» MCARDLE DISEASE
» MYOPHOSPHORYLASE DEFICIENCY

 232600

PYGM (GLYCOGEN PHOSPHORYLASE, MUSCLE, MYOPHOSPHORYLASE)

 608455   950
GLYCOGEN STORAGE DISEASE, TYPE 6
» GSD TYPE 6
» HERS DISEASE
» GLYCOGEN PHOSPHORYLASE DEFICIENCY		 232700 PYGL (GLYCOGEN PHOSPHORYLASE, LIVER) 232700   1500
GLYCOGEN STORAGE DISEASE, TYPE 7
» GSD TYPE 7
» TARUI DISEASE
» MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY		  232300 PFKM (PHOSPHOFRUCTOKINASE, MUSCLE TYPE)  606800   Upon Request
GLYCOGEN STORAGE DISEASE, TYPE 8   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
GLYCOGEN STORAGE DISEASE, TYPE 9A
» GSD TYPE 9A
» LIVER PHOSPHORYLASE KINASE DEFICIENCY
» LIVER GLYCOGENOSIS (X-LINKED)
» GLYCOGEN STORAGE DISEASE, TYPE 8
» GSD TYPE 8		  306000 PHKA2 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-2 SUBUNIT) 306000   2000
GLYCOGEN STORAGE DISEASE, TYPE 9B
» PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE (AUTOSOMAL RECESSIVE)		 261750 PHKB (PHOSPHORYLASE KINASE, BETA SUBUNIT) 172490   2200

GLYCOGEN STORAGE DISEASE, TYPE 9C
 » GSD TYPE 9C
» GLYCOGENOSIS, HEPATIC (AUTOSOMAL RECESSIVE)

 604549  PHKG2 (PHOSPHORYLASE KINASE, TESTIS / LIVER, GAMMA-2) 172471    700
GLYCOGEN STORAGE DISEASE, TYPE 9D
» GSD TYPE 9D
» MUSCLE PHOSPHORYLASE KINASE DEFICIENCY
» MUSCLE GLYCOGENOSIS (X-LINKED)		 300559 PHKA1 (PHOSPHORYLASE KINASE, MUSCLE, ALPHA-1 SUBUNIT) 311870   2000
GLYCOGEN STORAGE DISEASE, TYPE 11   See FANCONI-BICKEL SYNDROME      
GLYCOLIC ACIDURIA   See HYPEROXALURIA, PRIMARY, TYPE 1      
GLYCOPROTEIN Ib, PLATELET, DEFICIENCY OF   See BERNARD-SOULIER SYNDROME      
GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 2      
GM1-GANGLIOSIDOSIS, TYPE 1
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 1		 230500 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1300
GM1-GANGLIOSIDOSIS, TYPE 2
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 2		 230600 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1300
GM1-GANGLIOSIDOSIS, TYPE 3
» GANGLIOSIDOSIS, GENERALIZED GM1, TYPE 3		 230650 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1300
GM2-GANGLIOSIDOSIS, TYPE 2   See SANDHOFF DISEASE      
GM2-GANGLIOSIDOSIS, TYPE AB   See TAY-SACHS DISEASE, AB VARIANT      
GOITER, ADENOMATOUS   See GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)      
GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)
» GOITER, NONENDEMIC SIMPLE
» GOITER, ADENOMATOUS
» AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO		 188450 TG (SIMPLE, THYROGLOBULIN) 188450   300
GOITER, NONENDEMIC SIMPLE   See GOITER, FAMILIAL, WITH HYPOTHYROIDISM (AUTOSOMAL RECESSIVE)      
GOLDMANN-FAVRE SYNDROME   See ENHANCED S-CONE SYNDROME      
GOLTZ SYNDROME   See FOCAL DERMAL HYPOPLASIA      
GOLTZ-GORLIN SYNDROME   See FOCAL DERMAL HYPOPLASIA      
GONADAL DYSGENESIS, 46XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY 607080 DHH (DESERT HEDGEHOG) 605423   600
GONADAL DYSGENESIS, XY TYPE 233420 DHH (DESERT HEDGEHOG) 605423   600
GONADAL DYSGENESIS, XX TYPE   OVARIAN DYSGENESIS TYPE 1, ODG1      

GONADAL DYSGENESIS, XY FEMALE TYPE, GDXY
» SWYER SYNDROME
» SEX-REVERSAL

306100

SRY (SEX-DETERMINING REGION Y, TESTIS-DETERMINING FACTOR, TDF)

480000

Whole Gene or Positive / Negative

 Whole Gene: 300
Positive / Negative: 150
GORDON HYPERKALEMIA-HYPERTENSION SYNDROME   See PSEUDOHYPOALDOSTERONISM, TYPE 2      

GORLIN SYNDROME

.

See BASAL CELL NEVUS SYNDROME

.

.

  
GOUT, HPRT-RELATED
» KELLEY-SEEGMILLER SYNDROME 		 300323 HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT) 308000   400
GOUTY NEPHROPATHY   See FAMILIAL JUVENILE HYPERURICEMIC NEPHROPATHY, HNFJ      

GRACILE SYNDROME
» GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH
» FINNISH LETHAL NEONATAL METABOLIC SYNDROME
» LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS
» FELLMAN SYNDROME

 603358 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 . 600
GRANULAR CORNEAL DYSTROPHY, TYPE 1   See CORNEAL DYSTROPHY, GROENOUW TYPE 1      
GRANULAR CORNEAL DYSTROPHY, TYPE 2   See CORNEAL DYSTROPHY, AVELLINO TYPE      
GRANULAR CORNEAL DYSTROPHY, TYPE 3   See CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE 1      

GRAVES DISEASE

275000

 TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372   500

GREIG CEPHALOPOLYSYNDACTYLY SYNDROME
» POLYSYNDACTYLY WITH PECULIAR SKULL SHAPE

 175700 GLI3 (GLI-KRUPPEL FAMILY MEMBER 3) 165240  Whole Gene or Deletions Whole Gene: 1700
Deletions: 350
GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)   See PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE      
GROWTH HORMONE DEFICIENCY, ISOLATED   See PITUITARY DWARFISM 1      
GROWTH HORMONE DEFICIENCY, ISOLATED (AUTOSOMAL DOMINANT)   See PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)      
GROWTH HORMONE INSENSITIVITY SYNDROME   See PITUITARY DWARFISM 2      
GROWTH HORMONE RECEPTOR DEFICIENCY   See PITUITARY DWARFISM 2      
GROWTH RETARDATION, AMINO ACIDURIA, CHOLESTASIS, IRON OVERLOAD, LACTIC ACIDOSIS, AND EARLY DEATH . See GRACILE SYNDROME      
GRUBER SYNDROME   See MECKEL SYNDROME, TYPE 1      
See MECKEL SYNDROME, TYPE 3      
GSD TYPE 0   See GLYCOGEN STORAGE DISEASE, TYPE 0      
GSD TYPE 1A   See GLYCOGEN STORAGE DISEASE, TYPE 1A      
GSD TYPE 1B   See GLYCOGEN STORAGE DISEASE, TYPE 1B      
GSD TYPE 2   See GLYCOGEN STORAGE DISEASE, TYPE 2      
GSD TYPE 2B   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
GSD TYPE 3   See GLYCOGEN STORAGE DISEASE, TYPE 3      
GSD TYPE 4   See GLYCOGEN STORAGE DISEASE, TYPE 4      
GSD TYPE 5   See GLYCOGEN STORAGE DISEASE, TYPE 5      
GSD TYPE 6   See GLYCOGEN STORAGE DISEASE, TYPE 6      
GSD TYPE 7   See GLYCOGEN STORAGE DISEASE, TYPE 7      
GSD TYPE 8   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
GSD TYPE 9A   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
GSD TYPE 9C   See GLYCOGEN STORAGE DISEASE, TYPE 9C      
GSD TYPE 9D   See GLYCOGEN STORAGE DISEASE, TYPE 9D      

GTP CYCLOHYDROLASE 1 DEFICIENCY
» GCH DEFICIENCY
» HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY
» PHENYLKETONURIA, ATYPICAL SEVERE, DUE TO GTP CYCLOHYDROLASE 1 DEFICIENCY

233910

GCH1 (GTP CYCLOHYDROLASE 1)

600225

.

 550
GUAM DISEASE
» AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1		 105500 TRPM7 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 7;LONG TRANSIENT RECEPTOR POTENTIAL CHANNEL 7; LTRPC7
TRANSIENT RECEPTOR POTENTIAL-PHOSPHOLIPASE C-INTERACTING KINASE; TRP-PLIK; CHAK)		 605692   1600
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY
» GAMT DEFICIENCY
» CREATINE DEFICIENCY SYNDROME DUE TO GAMT DEFICIENCY		 601240 GAMT (GUANIDINOACETATE METHYLTRANSFERASE) 601240   750
GUIBAUD - VAINSEL SYNDROME   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS      

GUTTMACHER SYNDROME

.

HOXA 13

142959

.

 510
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

H

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro
HADDAD SYNDROME . See CONGENITAL CENTRAL HYPOVENTILATION SYNDROME . . .
HADH DEFICIENCY   See 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY      

HAEMOPHILIA A

306700

F8 (FACTOR 8)

306700

Whole Gene, Intron 1 Inversion or
Intron 22 Inversion

 Whole Gene: 800
Intron 22 Inversion: 300
Intron 22 Inversion: 300

HAEMOPHILIA B

306900

F9 (FACTOR 9)

306900

.

 620
HAILEY-HAILEY DISEASE
» PEMPHIGUS, BENIGN FAMILIAL		 169600 ATP2C1 604384   2700
HAJDU-CHENEY SYNDROME
» ACROOSTEOLYSIS WITH OSTEOPOROSIS AND CHANGES IN SKULL AND MANDIBLE
» ARTHRODENTOOSTEODYSPLASIA		 102500 NOTCH2 (NOTCH, DROSOPHILA, HOMOLOG OF, 2) 600275   1090

HALLERVORDEN-SPATZ DISEASE
» PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION, PKAN
» NEUROAXONAL DYSTROPHY, JUVENILE-ONSET

234200

PANK2 (PANTOTHENATE KINASE 2)

606157

.

 500
PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) 603604   1600
HAND-FOOT-GENITAL SYNDROME . See HAND-FOOT-UTERUS SYNDROME . . .

HAND-FOOT-UTERUS SYNDROME
» HAND-FOOT-GENITAL SYNDROME

140000

HOXA 13

142959

.

.		 510
HANHART DWARFISM   See PITUITARY DWARFISM 3      
HANHART DWARFISM
PITUITARY HORMONE DEFICIENCY, COMBINED		   See PITUITARY DWARFISM 3      
HAPPLE SYNDROME   See CHONDRODYSPLASIA PUNCTATA 2 (X-LINKED DOMINANT), CDPX2      
HARDEROPORPHYRINURIA   See COPROPORPHYRIA      
HARD SYNDROME   See WALKER-WARBURG SYNDROME      
HARLEQUIN ICHTHYOSIS   See ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE      
HARP SYNDROME (HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION) 607236 PANK2  (PANTOTHENATE KINASE 2) 606157

.

 500

HAW RIVER SYNDROME, HRS

140340

DRPLA (ATROPHIN 1)

125370

Repeat

 250

HAY-WELLS SYNDROME

.

See ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE

.

.

  
HDR SYNDROME   See BARAKAT SYNDROME      

HEART BLOCK, FAMILIAL

113900

SCN5A

600163

See also LONG QT SYNDROME

 2800
HEART-HAND SYNDROME   See HOLT - ORAM SYNDROME, HOS1      
HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO 600263

IFNGR1 (INTERFERON, GAMMA, RECEPTOR 1, ANTIVIRAL PROTEIN, TYPE 2)

 		 107470   800

HEMANGIOMA

.

See CEREBELLAR HEMANGIOMA

.

.

  
HEMATURIA, BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY		 141200 COL4A3  120070  .   1550
COL4A4  120131 .   1550
HEMERALOPIA-MYOPIA   See NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A      
HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY   See PORENCEPHALY, FAMILIAL      
HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN   See HEMOCHROMATOSIS, TYPE 2, HFE2      
HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE   See HEMOCHROMATOSIS, TYPE 2, HFE2      
HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2   See HEMOCHROMATOSIS, TYPE 3, HFE3      
HEMOCHROMATOSIS, JUVENILE   See HEMOCHROMATOSIS, TYPE 2, HFE2      

HEMOCHROMATOSIS, TYPE 1, HFE1

235200

HFE

235200

Whole Gene or 4 Mutations (C282Y, H63D, S65C, E168X)

Whole Gene: 650
4 Mutations: 280
HEMOCHROMATOSIS, TYPE 2, HFE2
» HEMOCHROMATOSIS, JUVENILE
» HEMOCHROMATOSIS DUE TO DEFECT IN HEMOJUVELIN
» HEMOCHROMATOSIS DUE TO DEFECT IN HEPCIDIN ANTIMICROBIAL PEPTIDE		 602390 HAMP (HEPCIDIN ANTIMICROBIAL PEPTIDE)
 606464    300
HJV (HEMOJUVELIN) 608374   700
HEMOCHROMATOSIS, TYPE 3, HFE3
» HEMOCHROMATOSIS DUE TO DEFECT IN TRANSFERRIN RECEPTOR 2

604250

 TFR2 (TRANSFERRIN RECEPTOR 2) 604720   1150
HEMOCHROMATOSIS, TYPE 4, HFE4 606069

SLC40A1 (FERROPORTIN 1, IREG1, SLC11A3)

 604653   950
HEMOLYTIC ANEMIA DUE TO BAND 3 MONTEFIORE 109270 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270   1000
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, TYPE 5 612925 C3 (COMPLEMENT COMPONENT 3) 120700   1500
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, TYPE 6 612926 CFHR5 (COMPLEMENT FACTOR H-RELATED 5) 608593   500
THBD (THROMBOMODULIN) 188040   450
HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1		 235400 ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE) 604134   1400
CFH (HF1, COMPLEMENT FACTOR H) 134370 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 1250
Deletion-Duplication: 350

MCP (MEMBRANE COFACTOR PROTEIN, MEASLES VIRUS RECEPTOR, CD46, MIC10, TLX, TRA2.10)

 120920  Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 650
Deletion-Duplication: 350
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 2, FHL2 603553 PRF1 (PERFORIN 1, PORE-FORMING PROTEIN) 170280    600
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 3, FHL3 608898 UNC13D (UNC13, C. ELEGANS, HOMOLOG OF, D, MUNC13-4)
 608897    2500
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, TYPE 4, FHL4 603552 STX11 (SYNTAXIN 11)
605014    650
HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA   See ACERULOPLASMINEMIA      

HEPATIC ADENOMA

142330

HNF1A (TCF1)

142410

Whole Gene or
Deletion-Duplication

 Whole Gene: 700
Deletion-Duplication: 350
HEPATIC AGT DEFICIENCY   See HYPEROXALURIA, PRIMARY, TYPE 1      
HEPATIC FAILURE, EARLY-ONSET, AND NEUROLOGIC DISORDER DUE TO CYTOCHROME c OXIDASE DEFICIENCY 220110

SCO1 (S. CEREVISIAE, HOMOLOG OF, CYTOCHROME OXIDASE-DEFICIENT 1, S. CEREVISIAE, HOMOLOG OF)

 603644  . 550
HEPATIC LIPASE DEFICIENCY
 151670

LIPC (HEPATIC LIPASE, LIPH, HEPATIC TRIGLYCERIDE LIPASE, HTGL)

 151670 . 850
HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE   MET (MET PROTOONCOGENE; HEPATOCYTE GROWTH FACTOR RECEPTOR) 164860   1900
HEPATOLENTICULAR DEGENERATION . See WILSON DISEASE
 . . .
HEPATORENAL GLYCOGENOSIS WITH RENAL FANCONI SYNDROME   See FANCONI-BICKEL SYNDROME      
HEPATORENAL TYROSINEMIA   See TYROSINEMIA, TYPE 1      
HEREDITARY CEREBRAL HEMORRHAGE WITH AMYLOIDOSIS, HCHWA   See CEREBRAL AMYLOID ANGIOPATHY      
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER, HLRCC 605839 FH (FUMARATE HYDRATASE, FUMARASE) 136850   950
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3   See CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F      
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 4, HMSN4   See REFSUM DISEASE      

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES, HNPP
» TOMACULOUS NEUROPATHY

162500

PMP22 (PERIPHERAL MYELIN PROTEIN)

601097

Whole Gene or Deletion

 Whole Gene: 600
Deletion: 450
HEREDITARY PANCREATITIS 167800 CTRC (CHYMOTRYPSIN C, CALDECRIN) 601405   800
HEREDITARY PAROXYSMAL CEREBELLAR ATAXIA   See EPISODIC ATAXIA, TYPE 2, EA2      
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4   See INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA      
HERLITZ-PEARSON TYPE EPIDERMOLYSIS BULLOSA   See EPIDERMOLYSIS BULLOSA LETALIS      

HERMANSKY-PUDLAK SYNDROME

HPS1 and HPS3

.

3 Mutations: 16bp Duplication, 3.9kb Deletion and IVS5+1G>A

450
HERMANSKY-PUDLAK SYNDROME, TYPE 1-8, HPS1-8   HPS PANEL   8 Genes: HPS1-8 

2200
HERMANSKY-PUDLAK SYNDROME, TYPE 1, HPS1 203300

HPS1

604982

Whole Gene Sequencing

 500
HERMANSKY-PUDLAK SYNDROME, TYPE 2, HPS2 608233 AP3B1 (ADAPTOR-RELATED PROTEIN COMPLEX 3, BETA-1 SUBUNIT; ADAPTIN, BETA-3A; ADTB3A; HPS2) 603401   700
HERMANSKY-PUDLAK SYNDROME, TYPE 3, HPS3 614072

HPS3

606118

Whole Gene Sequencing

 550
HERMANSKY-PUDLAK SYNDROME, TYPE 4, HPS4 614073 HPS4 606682 Whole Gene Sequencing 500
HERMANSKY-PUDLAK SYNDROME, TYPE 5, HPS5

614074

 HPS5 (RUBY-EYE 2, MOUSE, HOMOLOG OF; RU2; ALPHA-INTEGRIN-BINDING PROTEIN 63; AIBP63) 607521   500
HERMANSKY-PUDLAK SYNDROME, TYPE 6, HPS6 614075 HPS6 (RUBY-EYE, MOUSE, HOMOLOG OF; RU) 607522   600
HERMANSKY-PUDLAK SYNDROME, TYPE 7, HPS7 614076 DTNBP1 (HPS7; DYSTROBREVIN-BINDING PROTEIN 1; DYSBINDIN; SANDY, MOUSE, HOMOLOG OF; SDY) 607145   450
HERMANSKY-PUDLAK SYNDROME, TYPE 8, HPS8 614077 BLOC1S3 (BIOGENESIS OF LYSOSOME-RELATED ORGANELLES COMPLEX 1, SUBUNIT 3; BLOS3; HPS8; REDUCED PIGMENTATION, MOUSE, HOMOLOG OF) 609762   300
HERS DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 6      
HETEROTAXY, VISCERAL (X-LINKED)
» SITUS INVERSUS (X-LINKED)		 306955 ZIC3  300265 . 550
HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
» PERIVENTRICULAR NODULAR HETEROTOPIA 4		 300537 FLNA (FILAMIN A) 300017   Up to 5500, depending on amount of work
HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)
» PERIVENTRICULAR NODULAR HETEROTOPIA 1
» NODULAR HETEROTOPIA
» BILATERAL PERIVENTRICULAR
HETEROTOPIA
» PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA		 300049 FLNA (FILAMIN A) 300017   Up to 5500, depending on amount of work
HEXOSAMINIDASE ACTIVATOR DEFICIENCY   See TAY-SACHS DISEASE, AB VARIANT      
HEXOSAMINIDASE A DEFICIENCY   See TAY-SACHS DISEASE      
HEXOSAMINIDASES A AND B DEFICIENCY   See SANDHOFF DISEASE      
HHH SYNDROME
» HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
» ORNITHINE TRANSLOCASE DEFICIENCY		 238970 SLC25A15 (SOLUTE CARRIER FAMILY 25 (MITOCHONDRIAL CARRIER, ORNITHINE TRANSPORTER), MEMBER 15;ORNITHINE TRANSPORTER, MITOCHONDRIAL, 1) 603861   500

HIBERNIAN FEVER, FAMILIAL
» FAMILIAL PERIODIC FEVER (AUTOSOMAL DOMINANT)
» TUMOR NECROSIS FACTOR RECEPTOR-ASSOCIATED PERIODIC SYNDROME, TRAPS

142680

TNFRSF1A (TNFR1)

191190

Exons 2-4 (> 95% of mutations)

 230
MICPCH SYNDROME
   See MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA      
MICROCEPHALY  

MICROCEPHALY PANEL:
- MCPH1
- CENPJ
- STIL
- CDK5RAP2

   Whole Gene Sequencing and Deletion-Duplication Testing 3400
HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME   See MOWAT-WILSON SYNDROME      

HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME, LATE INFANTILE

. 

 ZEB2 (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD-INTERACTING PROTEIN 1, SMADIP1, SIP1) 605802

Whole Gene Sequencing and Deletion-Duplication Testing

600
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 2 600155 EDNRB (ENDOTHELIN RECEPTOR, TYPE B) 131244   400
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 4, HSCR4 613712 EDN3 (ENDOTHELIN 3) 131242   350

HIRSCHSPRUNG DISEASE, TYPE 1
» AGANGLIONIC MEGACOLON

142623 RET  (RET KINASE) 164761 Whole Gene 1090

HIRSCHSPRUNG DISEASE WITH NEUROBLASTOMA

.

PHOX2B

603851

.

 500
HLCS DEFICIENCY   See HOLOCARBOXYLASE SYNTHETASE DEFICIENCY      

HMG-COA LYASE DEFICIENCY
» HMG-COA SYNTHETASE DEFICIENCY

246450

HMGCL (HMG - COA SYNTHETASE)

246450

.

 1100

HNPCC

.

See COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS

.

.

  
HOLOCARBOXYLASE SYNTHETASE DEFICIENCY
» MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
» HLCS DEFICIENCY		 253270 HLCS (HOLOCARBOXYLASE SYNTHETASE; HCS) 609018   700

HOLOPROSENCEPHALY

.

SHH, SIX3, TGIF and ZIC2

.

Whole Gene Sequencing and Deletion-Duplication Testing

 1800

HOLOPROSENCEPHALY 2, HPE2

157170

SIX3

603714

See also HOLOPROSENCEPHALY

 800

HOLOPROSENCEPHALY 3, HPE3

142945

SHH (SONIC HEDGEHOG)

600725

See also HOLOPROSENCEPHALY

 500

HOLOPROSENCEPHALY 4, HPE4

142946

TGIF

602630

See HOLOPROSENCEPHALY

  

HOLOPROSENCEPHALY 5, HPE5

603073

ZIC2 (ZINC FINGER PROTEIN OF CEREBELLUM, 2)

603073

See also HOLOPROSENCEPHALY

 800

HOLOPROSENCEPHALY 7, HPE7

601309

PTCH1 (PTCH, PATCHED, PTC)

601309

Whole Gene Sequencing and Deletion-Duplication Testing

 1800

HOLT-ORAM SYNDROME, HOS1
» HEART-HAND SYNDROME

142900

TBX5 (T-BOX 5)

601620

Whole Gene or Deletions

 Whole Gene: 495
Deletions: 350
HOMOCYSTINURIA
» CYSTATHIONINE BETA-SYNTHASE DEFICIENCY		 236200 CBS (CYSTATHIONINE BETA-SYNTHASE) 236200 Whole Gene or Exons 4 and 8 (Including GLY307SER and ILE278THR) Whole Gene: 1200
Exons 4 and 8: 400
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY   See MTHFR DEFICIENCY      
HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE   See METHYLCOBALAMIN DEFICIENCY, cblG TYPE      
HOPF DISEASE . See ACROKERATOSIS VERRUCIFORMIS .    

HOYERAAL-HREIDARSSON SYNDROME

300240

DKC1 (DYSKERIN)

300126

.

 1750
HPRT DEFICIENCY    See LESCH - NYHAN SYNDROME, LNS      
HPRT1 DEFICIENCY   See LESCH - NYHAN SYNDROME, LNS      

HUNTER SYNDROME

.

See MUCO-POLYSACCHARIDOSIS, TYPE 2

.

.

  

HUNTINGTON CHOREA

143100

HD (HUNTINGTIN)

143100

Repeat

 300
HUNTINGTON DISEASE-LIKE 1, HDL1 603218 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 300
HUNTINGTON DISEASE-LIKE 2, HDL2 606438

JPH3 (JUNCTOPHILIN 3)

 605268  Repeat 350
HUNTINGTON DISEASE-LIKE 4, HDL4   See SPINOCEREBELLAR ATAXIA 17, SCA17      
HURLER SYNDROME   See MUCOPOLYSACCHARIDOSIS, TYPE IH      
HURLER-SCHEIE SYNDROME   See MUCOPOLYSACCHARIDOSIS, TYPE IH/S      
HUTCHINSON-GILFORD PROGERIA SYNDROME 176670 LMNA (LAMIN A/C) 150330   700
HYALOIDEORETINAL DEGENERATION OF WAGNER   See WAGNER SYNDROME, TYPE 1      
HYALURONIDASE DEFICIENCY   See MUCOPOLYSACCHARIDOSIS TYPE 9, MPS9      
HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA   See WALKER-WARBURG SYNDROME      

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS, HSAS
» AQUEDUCTAL STENOSIS (X-LINKED)

307000

L1 (L1CAM)

308840

.

 900
HYDROMETROCOLPOS SYNDROME   See MCKUSICK-KAUFMAN SYNDROME      
HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION   See MCKUSICK-KAUFMAN SYNDROME      
HYPERAMMONEMIA DUE TO N-ACETYLGLUTAMATE SYNTHETASE DEFICIENCY   N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY      
HYPERANDROGENISM
 . CYP21A2 201910

Whole Gene and Deletions-Duplications

 900
HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL   See HYPOPARATHYROIDISM, FAMILIAL ISOLATED      
HYPERCALCIURIC RICKETS   See SODIUM/INORGANIC PHOSPHATE COTRANSPORTER, TYPE 2C, NPT2C      
HYPERCHOLESTEROLEMIA 144010 APOB (APOLIPOPROTEIN B) 107730 3 mutations: R3500Q, R3500W, H3543Y 250

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT)

143890

LDLR  (LDL RECEPTOR)

606945

Whole Gene LDLR + 3 Exons in APOB or Deletion-Duplication Testing

 Whole Gene + 3 Exons:1000
Deletion-Duplication: 350
HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B
» APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE 		144010 APOB (APOLIPOPROTEIN B, APOB100,
APOB48) 		 107730 2 Mutations: R3500Q  and R3531C 250
HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 603813 ARH 605747   800
LDLRAP1 (LOW DENSITY LIPOPROTEIN RECEPTOR ADAPTOR PROTEIN 1, LDLR ADAPTOR PROTEIN 1, ARH) 605747   550
HYPERCHYLOMICRONEMIA 207750 APOC2 (APOLIPOPROTEIN C2) 207750   350
HYPERCHYLOMICRONEMIA   See HYPERLIPOPROTEINEMIA TYPE 1      

HYPEREKPLEXIA
» STARTLE DISEASE
» KOK DISEASE
» STIFF BABY SYNDROME

149400

GLRA1 (GLYCINE RECEPTOR, ALPHA-1 SUBUNIT)

138491

Sequencing of 7 Exons of GLRA1 and Deletion-Duplication Testing of GLRA1, GLRB en SLC6A5

 950
GLRB (GLYCINE RECEPTOR, BETA SUBUNIT) 138492   650
HYPEREKPLEXIA AND EPILEPSY 300607 ARHGEF9 (RHO GUANINE NUCLEOTIDE EXCHANGE FACTOR 9; COLLYBISTIN) 300429   650
HYPERFERRITINEMIA-CATARACT SYNDROME 600886 FTL (FERRITIN LIGHT CHAIN) 134790 Whole Gene Sequencing or Iron-responsive Element Whole Gene: 700
IRE: 350
HYPERGLYCINEMIA WITH KETOACIDOSIS AND LEUKOPENIA   See PROPIONIC ACIDEMIA      
HYPERGONADOTROPIC HYPOGONADISM, FEMALE . 

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   		 152790   1000

HYPER-IgD SYNDROME
» PERIODIC FEVER, DUTCH TYPE

260920

MVK (MEVALONATE KINASE)

251170

Exons 8-10 or Remaining Exons

 Exons 8-10: 500
Remaining Exons: 650
HYPER-IgE SYNDROME (AUTOSOMAL DOMINANT)   See HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT)      
HYPER-IgM IMMUNODEFICIENCY (X-LINKED) . See IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1, HIGM1 .    
HYPER-IgM SYNDROME   See IMMUNODEFICIENCY WITH HYPER-IgM      
HYPER-IgM SYNDROME 1 . See IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 1, HIGM1 .    
HYPER-IgM SYNDROME 2   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2      
HYPER-IgM SYNDROME 3   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3      
HYPER-IgM SYNDROME 5   See IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5      
HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT)
» JOB SYNDROME
» HYPER-IgE SYNDROME (AUTOSOMAL DOMINANT)		 147060 STAT3 (SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION 3; ACUTE-PHASE RESPONSE FACTOR) 102582 Whole Gene Sequencing or Common Mutations: Exons 12-16, 20 and 21 Whole Gene: 900
Common Mutations: 800
HYPERINSULINEMIA   See HYPERPROINSULINEMIA      
HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
»HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

 256450 ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1) 600509 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 1300
Deletion-Duplication: 350
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 3 602485 GCK  (GLUCOKINASE) 138079 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 600
Deletion-Duplication: 350
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 4 609975 HADH (3-@HYDROXYACYL-CoA DEHYDROGENASE, HADSC, SCHAD) 601609   650
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 5 609968 INSR (INSULIN RECEPTOR) 147670   1300

HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6
»HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
» PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY
» HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY
» HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA
» NESIDIOBLASTOSIS OF PANCREAS
» HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS
» HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME

 606762

GLUD1 (GLUTAMATE DEHYDROGENASE 1)

 138130  Whole Gene Sequencing or Exons 6, 7, 10, 11 and 12 Whole Gene: 800
Exons: 550
HYPERINSULINISM (AUTOSOMAL RECESSIVE)   See NESIDIOBLASTOSIS      
HYPERINSULINISM, CONGENITAL ONEMIA SYNDROME   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
See NESIDIOBLASTOSIS      
HYPERINSULINISM-HYPERAMMONEMIA SYNDROME   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
HYPERKALEMIC PERIODIC PARALYSIS   See HYPOKALEMIC PERIODIC PARALYSIS, HOKPP      

HYPERKALEMIC PERIODIC PARALYSIS, HYPP
» MYOTONIA CONGENITA, ATYPICAL

170500

SCN4A

603967

 

 950
HYPERKERATOSIS-CONTRACTURE SYNDROME   See TIGHT SKIN CONTRACTURE SYNDROME, LETHAL      
HYPERKERATOSIS, CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS . See CYCLIC ICHTHYOSIS WITH EPIDERMOLYTIC HYPERKERATOSIS . . .
HYPERKERATOSIS, EPIDERMOLYTIC . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . . .
HYPERKERATOSIS, EPIDERMOLYTIC PALMOPLANTAR KERATODERMA . See EPIDERMOLYTIC PALMOPLANTAR KERATODERMA . . .
HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . See ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL . . .
HYPERKERATOSIS, NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA . See NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA . . .

HYPERKERATOSIS, PALMOPLANTAR KERATODERMA WITH DEAFNESS

..

See PALMOPLANTAR KERATODERMA WITH DEAFNESS

.

.

  
HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 1   See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 1      
HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 2   See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2      
HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 3   See CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3      
HYPERLIPOPROTEINEMIA TYPE 1
» LIPOPROTEIN LIPASE DEFICIENCY
» HYPERCHYLOMICRONEMIA		 238600 LPL (LIPOPROTEIN LIPASE) 238600

Whole Gene or Deletion-Duplication

Whole Gene: 650
Deletion-Duplication: 350
HYPERLIPOPROTEINEMIA, TYPE 3   See DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E      
HYPERMETHIONINEMIA, ISOLATED PERSISTENT   See METHIONINE ADENOSYLTRANSFERASE DEFICIENCY      
HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA   See HHH SYNDROME      
HYPEROSTOSIS-HYPERPHOSPHATEMIA SYNDROME   See TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL      

HYPEROXALURIA, PRIMARY, TYPE 1
» OXALOSIS 1
» GLYCOLIC ACIDURIA
» ALANINE-GLYOXYLATE AMINOTRANSFERASE DEFICIENCY
» HEPATIC AGT DEFICIENCY
» SERINE:PYRUVATE AMINOTRANSFERASE DEFICIENCY

 259900

AGXT (ALANINE-GLYOXYLATE AMINOTRANSFERASE, AGT, SERINE-PYRUVATE AMINOTRANSFERASE, SPT)

 604285 Whole Gene Sequencing, Deletion-Duplication Testing or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations) Whole Gene: 700
Deletion-Duplication: 350
3 Exons: 300

HYPEROXALURIA, PRIMARY, TYPE 2
» OXALOSIS 2
» GLYCERIC ACIDURIA
» GLYOXYLATE REDUCTASE/HYDROXYPYRUVATE REDUCTASE DEFICIENCY
» D-GLYCERATE DEHYDROGENASE DEFICIENCY

 260000

GRHPR (GLYOXYLATE REDUCTASE / HYDROXYPYRUVATE REDUCTASE, GLXR)

 604296 Whole Gene or 2 Mutations: 103delG and c.403_405+2delAAGT Whole Gene: 700
2 Mutations: 250
HYPERPARATHYROIDISM 1, HRPT1
» PARATHYROID ADENOMA, FAMILIAL		 145000 CDC73 (CELL DIVISION CYCLE PROTEIN 73, S. CEREVISIAE, HOMOLOG OF; PARAFIBROMIN; HYRAX, DROSOPHILA, HOMOLOG OF; HRPT2) 145000   590
HYPERPARATHYROIDISM 2, HRPT2
» HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS
» HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
» PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC		 145001 CDC73 (CELL DIVISION CYCLE PROTEIN 73, S. CEREVISIAE, HOMOLOG OF; PARAFIBROMIN; HYRAX, DROSOPHILA, HOMOLOG OF; HRPT2) 145000   590
HYPERPARATHYROIDISM, FAMILIAL PRIMARY, WITH MULTIPLE OSSIFYING JAW FIBROMAS   See HYPERPARATHYROIDISM 2, HRPT2      
HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY   See HYPERPARATHYROIDISM 2, HRPT2      

HYPERPHENYLALANINEMIA

.

See PHENYLKETONURIA

.

.

  
HYPERPHENYLALANINEMIA WITH NEOPTERIN DEFICIENCY   See GTP CYCLOHYDROLASE 1 DEFICIENCY      
HYPERPOTASSEMIA AND HYPERTENSION, FAMILIAL   See PSEUDOHYPOALDOSTERONISM, TYPE 2      
HYPERPROINSULINEMIA
» HYPERINSULINEMIA		 176730 INS (INSULIN, PROINSULIN) 176730   350
HYPERPRORENINEMIA, FAMILIAL 179820 REN (RENIN) 179820   700
HYPERPROSTAGLANDIN E SYNDROME 1   See BARTTER SYNDROME, ANTENATAL, TYPE 1      
HYPERPROSTAGLANDIN E SYNDROME, TYPE 2   See ANTENATAL BARTTER SYNDROME, TYPE 2      
HYPERPROTHROMBINEMIA   See HYPOPROTHROMBINEMIA      
HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1   See CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY      
HYPERTENSION, EARLY-ONSET (AUTOSOMAL DOMINANT) 605115 NR3C2 (MINERALOCORTICOID RECEPTOR, MLR, MCR, MR, ALDOSTERONE RECEPTOR) 600983   600
HYPERTENSIVE HYPERKALEMIA, FAMILIAL   See PSEUDOHYPOALDOSTERONISM, TYPE 2      
HYPERTHYROIDISM   TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372   500
HYPERTHYROIDISM, FAMILIAL, DUE TO INAPPROPRIATE THYROTROPIN SECRETION   See THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY      
HYPERTHYROXINEMIA DUE TO DECREASED PERIPHERAL CONVERSION OF T4
» 5-PRIME-DEIODINASE DEFICIENCY, GENERALIZED, CAUSING EUTHYROID HYPERTHYROXINEMIA		 147892 DIO1 (DEIODINASE, IODOTHYRONINE, TYPE 1; THYROXINE DEIODINASE, TYPE 1) 147892   350
HYPERTHYROXINEMIA, FAMILIAL EUTHYROID, SECONDARY TO PITUITARY AND PERIPHERAL RESISTANCE TO THYROID HORMONES   See THYROID HORMONE RESISTANCE, GENERALIZED (AUTOSOMAL DOMINANT)      
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC		   ACTC1
MYL2
MYL3		 . 19 Exons 1100

MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1

 . Complete sequencing of all 17 genes involved in HCM 2600
HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC		 192600 ACTC1 (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN) 102540 See also ACTC1, MYL2 and MYL3 550

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 1, CMH1
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 192600 MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) 160760 See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 1900

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 2, CMH2
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 115195 TNNT2  191045 See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 600

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 3, CMH3
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 115196

TPM1 (TROPOMYOSIN 1)

191010

See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1

 600

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 4A, CMD4A
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 115197 MYBPC3 (MYOSIN-BINDING PROTEIN C, CARDIAC) 600958 See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 1500

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 7, CMH7
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC

 191044 TNNI3 (TROPONIN I, CARDIAC) 191044  See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 400

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 8, CMH8
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 1

 608751

MYL3 (MYOSIN, LIGHT CHAIN 3, ALKALI, VENTRICULAR, SKELETAL, SLOW, ESSENTIAL LIGHT CHAIN OF MYOSIN)

 160790 » See also Next Generation Sequencing Platforms 550

HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL, 10, CMH10
» VENTRICULAR HYPERTROPHY, HEREDITARY
» ASYMMETRIC SEPTAL HYPERTROPHY
» HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC
» CARDIOMYOPATHY, HYPERTROPHIC, MID-LEFT VENTRICULAR CHAMBER TYPE 2

 608758

MYL2 (MYOSIN, LIGHT CHAIN 2, REGULATORY, CARDIAC, SLOW)

 160781 » See also Next Generation Sequencing Platforms 655
HYPERTROPHIC SUBAORTIC STENOSIS, IDIOPATHIC   See HYPERTROPHIC CARDIOMYOPATHY, FAMILIAL      
HYPOADRENALISM WITH ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA      
HYPOADRENOCORTICISM WITH HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS   See AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE 1      
HYPO-ALPHALIPOPROTEINEMIA 604091 APOA1 (APOLIPOPROTEIN A-1) 107680 L178P Mutation 300
HYPOBETALIPOPROTEINEMIA, FAMILIAL
» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE
» FAMILIAL HYPOBETALIPOPROTEINEMIA
» ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA		 107730 APOB (APOLIPOPROTEIN B, APOB100,
APOB48) 		 107730 Whole Gene 3950

HYPOCALCEMIA (AUTOSOMAL DOMINANT)

601198

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

Whole Gene or Deletion-Duplication

 Whole Gene: 550
Deletion-Duplication: 350
HYPOCALCEMIA (AUTOSOMAL DOMINANT)   See HYPOPARATHYROIDISM, FAMILIAL ISOLATED      
HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS . See VITAMIN D-DEPENDENT RICKETS, TYPE 2A . . .

HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1
» FAMILIAL BENIGN HYPERCALCEMIA 1

145980

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

Whole Gene or Deletion-Duplication

 Whole Gene: 550
Deletion-Duplication: 350
HYPOCERULOPLASMINEMIA   See ACERULOPLASMINEMIA      
HYPOCHONDROGENESIS   COL2A1 120140   1250

HYPOCHONDROPLASIA

146000

FGFR3

134934

 7 Mutations: I538V, N540T, N540S, N540K, K650N, K650M, K650Q
or
7 Mutations: S84L, R200C, N262H, G268C, Y278C, S279C, V381E		 7 Mutations: 400
HYPODONTIA/OLIGODONTIA, TYPE 1   See TOOTH AGENESIS, SELECTIVE, TYPE 1      
HYPODONTIA/OLIGODONTIA, TYPE 3
» TOOTH AGENESIS, SELECTIVE, TYPE 3		 604625 PAX9 (PAIRED BOX GENE 9) 167416   300
HYPODYSFIBRINOGENEMIA, CONGENITAL . See AFIBRINOGENEMIA      
HYPOGAMMAGLOBULINEMIA, ACQUIRED   See COMMON VARIABLE IMMUNODEFICIENCY      
HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY   See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 1      
See HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, TYPE 6      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 1   See KALLMANN SYNDROME, TYPE 1, KAL1      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPR 2   See KALLMANN SYNDROME TYPE 2, KAL2      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 3   See KALLMANN SYNDROME, TYPE 3, KAL3      
HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 4   See KALLMANN SYNDROME, TYPE 4, KAL4      

HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL RECESSIVE)
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC (AUTOSOMAL RECESSIVE)

224900

EDAR (ECTODYSPLASIN 1)

604095

.

 900
EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) 606603   750

HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY
» ECTODERMAL DYSPLASIA, HYPOHIDROTIC ECTODERMAL DYSPLASIA WITH IMMUNE DEFICIENCY

300291

IKBKG (NEMO)

300248

Whole Gene or 1 Mutation: Exon 4-10 Deletion

 Whole Gene and Common Deletion: 900
Common Deletion: 450
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 1   See BARTTER SYNDROME, ANTENATAL, TYPE 1      
HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA, ANTENATAL, TYPE 2   See ANTENATAL BARTTER SYNDROME, TYPE 2      

HYPOKALEMIC PERIODIC PARALYSIS, HOKPP
» HYPERKALEMIC PERIODIC PARALYSIS

170400

CACNA1S (CACNL1A3)

114208

Exons 11 and 30, including the R528H, R1239H and R1239G Mutations

 350
KCNE3 (POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED SUBFAMILY, MEMBER 3) 604433   350

SCN4A

603967

 

 950
SCN4A
and
CACNA1S (CACNL1A3)		 603967
and
114208		 4 Mutations in CACNA1S: R528G, R528H, R1239H, R1239G and 5 Mutations in SCN4A: R672S, R672H, R672G, R672C, R669H 700
HYPOLACTASIA   See LACTOSE INTOLERANCE      
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA   See GITELMAN SYNDROME      
HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA   See HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA      

HYPOMAGNESEMIA, PRIMARY
» MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF

248250

CLDN16 (CLAUDIN 16, PARACELLIN 1)

 603959    400
HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
» MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA		 248190 CLDN19 (CLAUDIN 19) 610036   375
HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC   See HYPOMAGNESEMIA, RENAL, TYPE 4      
HYPOMAGNESEMIA, RENAL, TYPE 2 154020 FXYD2 (FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2, SODIUM-POTASSIUM-ATPase, GAMMA-1 POLYPEPTIDE) 601814   375
HYPOMAGNESEMIA, RENAL, TYPE 4
» HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC		 611718 EGF (EPIDERMAL GROWTH FACTOR, UROGASTRONE) 131530   1400
HYPOMAGNESEMIA WITH SECONDARY HYPOCALCEMIA
» HYPOMAGNESEMIA, INTESTINAL, WITH SECONDARY HYPOCALCEMIA		 300523 TRPM6 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 6;CHANNEL KINASE 2; CHAK2 MELASTATIN-RELATED TRP CATION CHANNEL 6) 300095   1500
HYPOMYELINATION AND CONGENITAL CATARACT   See LEUKODYSTROPHY, HYPOMYELINATING, TYPE 5      
HYPOPARATHYROIDISM (AUTOSOMAL DOMINANT)   See HYPOPARATHYROIDISM, FAMILIAL ISOLATED      
HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY   See HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME      

HYPOPARATHYROIDISM, FAMILIAL ISOLATED
» HYPOPARATHYROIDISM (AUTOSOMAL DOMINANT)
» HYPOCALCEMIA (AUTOSOMAL DOMINANT)
» HYPERCALCIURIC HYPOCALCEMIA, FAMILIAL

146200

CASR (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

Whole Gene or Deletion-Duplication

 Whole Gene: 550
Deletion-Duplication: 350
GCM2 (GLIAL CELLS MISSING, DROSOPHILA, HOMOLOG OF, 2; GCMB) 603716   480

HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME
» HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES
» SANJAD-SAKATI SYNDROME
» HYPOPARATHYROIDISM, CONGENITAL, ASSOCIATED WITH DYSMORPHISM, GROWTH RETARDATION, AND DEVELOPMENTAL DELAY

  241410 TBCE (TUBULIN-SPECIFIC CHAPERONE E) 604934 Whole Gene or 12 bp Deletion in Exon 2 Whole Gene: 950
12 bp Deletion: 250
HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE   See BARAKAT SYNDROME      
HYPOPARATHYROIDISM WITH SHORT STATURE, MENTAL RETARDATION, AND SEIZURES   See HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME      
HYPOPHOSPHATASIA, ADULT
» ODONTOHYPOPHOSPHATASIA		 146300 ALPL (ALKALINE PHOSPHATASE, LIVER; ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE) 171760   600
HYPOPHOSPHATASIA, INFANTILE
» HYPOPHOSPHATASIA, PERINATAL LETHAL		 241500 ALPL (ALKALINE PHOSPHATASE, LIVER; ALKALINE PHOSPHATASE, LIVER/BONE/KIDNEY TYPE) 171760   600
HYPOPHOSPHATASIA, PERINATAL LETHAL   See HYPOPHOSPHATASIA, INFANTILE      
HYPOPHOSPHATEMIA (AUTOSOMAL RECESSIVE)   See HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE)      

HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT)
» RICKETS, HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL DOMINANT)

193100

FGF23 (FIBROBLAST GROWTH FACTOR 23)

605380

Whole Gene or Deletion-Duplication

 Whole Gene: 300
Deletion-Duplication: 350
HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE)
» HYPOPHOSPHATEMIA (AUTOSOMAL RECESSIVE)		 241520 DMP1 (DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1) 600980   590
HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE), TYPE 2 613312 ENPP1 (ECTONUCLEOTIDE PYROPHOSPHATASE / PHOSPHODIESTERASE 1;PHOSPHODIESTERASE I / NUCLEOTIDE PYROPHOSPHATASE 1; PDNP1; PLASMA CELL MEMBRANE GLYCOPROTEIN PC-1; PC1; NUCLEOTIDE PYROPHOSPHATASE) 173335   1100

HYPOPHOSPHATEMIC RICKETS (X-LINKED)
» VITAMIN D-RESISTANT RICKETS (X-LINKED)
» RICKETS, HYPOPHOSPHATEMIC RICKETS (X-LINKED)

307800

PHEX

307800

Whole Gene Sequencing or Deletion-Duplication

 Whole Gene: 900
Deletion-Duplication: 350

HYPOPLASTIC GLOMERULOCYSTIC KIDNEY DISEASE

137920

HNF1B (HNF2, TCF2)

189907

 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 600
Deletion-Duplication: 350
HYPOPLASTIC LEFT HEART SYNDROME 241550 GJA1 (GAP JUNCTION PROTEIN, ALPHA-1, CONNEXIN 43, CX43) 121014    450
HYPOPROCONVERTINEMIA   See FACTOR 7 DEFICIENCY      
HYPOPROTHROMBINEMIA
» DYSPROTHROMBINEMIA
» HYPERPROTHROMBINEMIA		 176930 F2 (FACTOR 2; COAGULATION FACTOR 2; THROMBIN; PROTHROMBIN) 176930   2800

HYPOSPADIAS (X-LINKED)

.

AR (ANDROGEN RECEPTOR)

313700

Whole Gene

 495
HYPOTHALAMIC HAMARTOBLASTOMA, HYPOPITUITARISM, IMPERFORATE ANUS, AND POSTAXIAL POLYDACTYLY   See PALLISTER-HALL SYNDROME      
HYPOTHYROIDISM   TSHR (THYROID-STIMULATING HORMONE RECEPTOR) 603372   500
HYPOTHYROIDISM, ATHYREOTIC   See HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2      
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE   See BAMFORTH-LAZARUS SYNDROME      
HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS   See HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2      

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, TYPE 2
» THYROID DYSGENESIS
» THYROID AGENESIS
» THYROID HYPOPLASIA
» THYROID, ECTOPIC
» HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS
» HYPOTHYROIDISM, ATHYREOTIC
» THYROTROPIN RESISTANCE

 218700

PAX8 (PAIRED BOX GENE 8)

 167415   1100

HYPOURICEMIA, RENAL
» DALMATIAN HYPOURICEMIA
» RENAL HYPOURICEMIA
» URIC ACID UROLITHIASIS

220150

SLC22A12 (SOLUTE CARRIER FAMILY 22, URATE TRANSPORTER, MEMBER 12,  ORGANIC ANION TRANSPORTER 4-LIKE, OAT4L, URATE TRANSPORTER 1, URAT1

 607096    500
HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY   See LESCH - NYHAN SYNDROME, LNS      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

I

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro
I-CELL DISEASE   See MUCOLIPIDOSIS, TYPE2, ML2      

ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» BROCQ SYNDROME
» EPIDERMOLYTIC HYPERKERATOSIS
» HYPERKERATOSIS, ICHTHYOSIFORM ERYTHRODERMA, BULLOUS CONGENITAL
» HYPERKERATOSIS, EPIDERMOLYTIC HYPERKERATOSIS

113800

KRT1 (KERATIN 1)

139350

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT10 (KERATIN 10)

148080

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT2E (KERATIN 2E)

600194

.

 1000

KRT1 and KRT10 (KERATIN 1 and KERATIN 10)

.

Hotspots

 800
ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100 

ALOX12B (ARACHIDONATE 12-LIPOXYGENASE, R TYPE, 12R-@LIPOXYGENASE)

 603741   1500

ALOXE3 (ARACHIDONATE LIPOXYGENASE 3,  LIPOXYGENASE TYPE 3)

 607206   1500

TGM1 (TRANSGLUTAMINASE)

190195

.

 1400
ICHTHYOSIFORM ERYTHRODERMA, UNILATERAL, WITH IPSILATERAL MALFORMATIONS, ESPECIALLY ABSENCE DEFORMITY OF LIMBS   See CHILD SYNDROME      
ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION   See CHANARIN-DORFMAN DISEASE      

ICHTHYOSIS BULLOSA (SIEMENS)

146800

KRT1 (KERATIN 1)

139350

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT10 (KERATIN 10)

148080

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT2E (KERATIN 2E)

600194

.

 1000

KRT1 and KRT10  (KERATIN 1 and KERATIN 10)

.

Hotspots

 800
ICHTHYOSIS CONGENITA 2B   See ICHTHYOSIS, LAMELLAR, 2, LI2      
ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
» HARLEQUIN ICHTHYOSIS		 242500

ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)

607800 Whole Gene 4900
ICHTHYOSIS, CONGENITAL (AUTOSOMAL RECESSIVE), ICHTHYIN-RELATED 612281 ICHTHYIN (ICHYN) 609383   900
ICHTHYOSIS, LAMELLAR, 2, LI2
» LAMELLAR ICHTHYOSIS, TYPE 2
» ICHTHYOSIS CONGENITA 2B		 601277

ABCA12 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 12)

607800 5 Exons: 28-32 700
ICHTHYOSIS SIMPLEX   See ICHTHYOSIS VULGARIS      
ICHTHYOSIS VULGARIS
» ICHTHYOSIS SIMPLEX

146700

 FLG (FILAGGRIN, PROFILAGGRIN)
 135940  7 Mutations: p.R501X, c.2282del4, c.3702delG, p.E2422X, c.7267delCA, p.R2447X and p.S3247X or
2 Common Mutations: c.2282delCAGT and c.1501C>T (p.Arg501X )		 7 Mutations: 800
2 Common Mutations: 250
ICHTHYOSIS (X-LINKED)
» STEROID SULFATASE DEFICIENCY		 308100 STS (STEROID SULFATASE; ARYLSULFATASE C; ARSC) 300747 Whole Gene or Deletion-Duplication Whole Gene: 1100
Deletion-Duplication: 400
ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE   See CHANARIN-DORFMAN DISEASE      
IDDM-MED SYNDROME   See EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS      

IDIOPATHIC VENTRICULAR FIBRILLATION

603829

SCN5A

600163

See also LONG QT SYNDROME

 1995
ILLIG-TYPE GROWTH HORMONE DEFICIENCY   See PITUITARY DWARFISM 1      
IMMOTILE CILIA SYNDROME   See PRIMARY CILIARY DYSKINESIA, TYPE 3      
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON 186830

CD3E (CD3 ANTIGEN, EPSILON SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, EPSILON SUBUNIT OF T3)

 186830   800
IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY   See IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX      
IMMUNODEFICIENCY WITH HYPER-IgM . AICDA, CD40, CD40LG, UNG .   2900
IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1, HIGM1
» HYPER-IgM IMMUNODEFICIENCY (X-LINKED)
» HYPER-IgM SYNDROME 1		 308230 CD40LG (CD40 LIGAND; TNFSF5; TUMOR NECROSIS FACTOR LIGAND SUPERFAMILY, MEMBER 5; TRAP; GP39) 300386   560

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
» HYPER-IgM SYNDROME 2

 605258

AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID)

 605257   1600

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
» HYPER-IgM SYNDROME 3

 606843

CD40 (CD40 ANTIGEN, B CELL-ASSOCIATED MOLECULE CD40 TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY, MEMBER 5, TNFRSF5)

 109535   1000

IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
» HYPER-IgM SYNDROME 5

 608106

UNG (URACIL-DNA GLYCOSYLASE)

 191525   1000

IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY (X-LINKED), IPEX
» X-LINKED AUTOIMMUNITY-ALLERGIC DYSREGULATION SYNDROME
» IDDM-SECRETORY DIARRHEA SYNDROME
» AUTOIMMUNITY-IMMUNODEFICIENCY SYNDROME
» DIARRHEA, POLYENDOCRINOPATHY, FATAL INFECTION SYNDROME
» ENTEROPATHY, AUTOIMMUNE, WITH HEMOLYTIC ANEMIA AND POLYENDOCRINOPATHY
» POLYENDOCRINOPATHY, IMMUNE DYSFUNCTION, AND DIARRHEA
» DIABETES MELLITUS, CONGENITAL INSULIN-DEPENDENT, WITH FATAL SECRETORY DIARRHEA
» IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY

 304790

FOXP3 (FORKHEAD BOX P3, SCURFIN)

 300292    690
IMMUNOGLOBULIN DEFICIENCY, LATE-ONSET   See COMMON VARIABLE IMMUNODEFICIENCY      
IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE 242900 SMARCAL1 (SWI/SNF-RELATED, MATRIX-ASSOCIATED, ACTIN-DEPENDENT REGULATOR OF CHROMATIN, SUBFAMILY A-LIKE PROTEIN 1)
606622    1000
INCLUSION BODY MYOPATHY 2 (AUTOSOMAL RECESSIVE), IBM2 600737 GNE (GLCNE, UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE/N-ACETYLMANNOSAMINE KINASE) 603824 Whole Gene Sequencing 750
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA, IBMPFD
» MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE
» PAGETOID AMYOTROPHIC LATERAL SCLEROSIS
» PAGETOID NEUROSKELETAL SYNDROME
» LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE		 167320 VCP (VALOSIN-CONTAINING PROTEIN) 601023   1100

INCONTINENTIA PIGMENTI

.

See BLOCH-SULZBERGER DISEASE

.

.

  
INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE)
» INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED
» CONGENITAL ANALGESIA (AUTOSOMAL RECESSIVE)		 243000 SCN9A (SODIUM CHANNEL, VOLTAGE-GATED, TYPE IX, ALPHA SUBUNIT) 603415   900
INFANTILE AGRANULOCYTOSIS   See NEUTROPENIA, SEVERE CONGENITAL, SCN      
INFANTILE PHYTANIC ACID STORAGE DISEASE   See REFSUM DISEASE, INFANTILE FORM      
INFANTILE SIALIC ACID STORAGE DISORDER
» SIALURIA, INFANTILE FORM
» N-ACETYLNEURAMINIC ACID STORAGE DISEASE
» NANA STORAGE DISEASE		 269920 SLC17A5  600760   580
INFANTILE SPASMS (X-LINKED), ISS X
» WEST SYNDROME
» EPILEPSY, INFANTILE SPASMS (X-LINKED)

308350

ARX

300382

See also Mental Retardation Panel

 600
CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)     1200
INSENSITIVITY TO PAIN, CHANNELOPATHY-ASSOCIATED   See INDIFFERENCE TO PAIN, CONGENITAL (AUTOSOMAL RECESSIVE)      
INSENSITIVITY TO PAIN, CONGENITAL   See NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 5, HSAN5      

INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIPA
» NEUROPATHY, CONGENITAL SENSORY, WITH ANHIDROSIS
» HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY 4, HSAN4
» FAMILIAL DYSAUTONOMIA, TYPE 2

 256800

NTRK1

 191315   1000
INSOMNIA-DYSAUTONOMIA
» FAMILIAL FATAL INSOMNIA		 600072 PRNP (PRION PROTEIN) 176640 DNA obtained after phenol extraction 300
INSULIN RESISTANCE   INSR (INSULIN RECEPTOR) 147670   1300
INSULIN RESISTANCE, SUSCEPTIBILITY TO   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM      
INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY   See SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 3      
INTRACTABLE CHILDHOOD EPILEPSY WITH GENERALISED TONIC-CLONIC SEIZURES (ICEGTC)   SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 Whole Gene and Deletions-Duplications 1750
INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST   See INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, TYPE 1, IPD1      
INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, TYPE 1, IPD1
» INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST		 610799 IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4) 606883   1300
IRAK4 DEFICIENCY 607676 IRAK4 (INTERLEUKIN 1 RECEPTOR-ASSOCIATED KINASE 4) 606883   1300

IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2
» IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT), IHGA

 137600 FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3) 601090 Whole Gene Sequencing or Deletion-Duplication Whole Gene: 550
Deletion-Duplication: 500
PITX2 (PAIRED-LIKE HOMEODOMAIN TRANSCRIPTION FACTOR 2, PTX2) 601542 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 650
Deletion-Duplication: 500
IRIS HYPOPLASIA WITH EARLY-ONSET GLAUCOMA (AUTOSOMAL DOMINANT), IHGA   See IRIDOGONIODYSGENESIS SYNDROME, TYPE 2, IRID2      
ISAACS-MERTENS SYNDROME   See EPISODIC ATAXIA, TYPE 1, EA1      
ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY   See ISOBUTYRYL GLYCINURIA      

ISOBUTYRYL GLYCINURIA
» ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
» ACAD8 DEFICIENCY

604773

ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8)

604773

   850
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE 2   See PITUITARY DWARFISM DUE TO ISOLATED GROWTH HORMONE DEFICIENCY (AUTOSOMAL DOMINANT)      
ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY   See ISOVALERIC ACIDEMIA      
ISOVALERIC ACIDEMIA
» ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY		 243500 IVD (ISOVALERYL-CoA DEHYDROGENASE) 607036   850
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

J

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro

JACKSON-LAWLER DISEASE
» PACHYONYCHIA CONGENITA, TYPE 2

167210

KRT17 (KERATIN 17)

148069

Whole Gene or Hotspots

 Whole Gene: 1000
Hotspots: 400

KRT6B (KERATIN 6B)

148042

.

 1000

JACKSON-WEISS SYNDROME
» CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

123150

FGFR1

136350

.

 500

FGFR2

176943

.

 500

JADASSOHN-LEWANDOWSKY SYNDROME
» PACHYONYCHIA CONGENITA, TYPE 1

167200

KRT16 (KERATIN 16)

148067

.

 1000

KRT6A (KERATIN 6A)

148041

.

 1000
KRT16 and KRT6A  (KERATIN 16 and KERATIN 6A)  

Hotspots

 750
JAEKEN SYNDROME   See CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1A, CDG1A      

JANSKY-BIELSCHOWSKY DISEASE

.

See CEROID LIPOFUCSINOSIS, CLN2

.

.

  
JANZ SYNDROME   See EPILEPSY, JUVENILE MYOCLONIC, JME      
JANZ SYNDROME   See EPILEPSY, MYOCLONIC JUVENILE      
JENSEN SYNDROME
» OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA		 311150 TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) 300356   380

JERVELL AND LANGE-NIELSEN SYNDROME, JLNS1

220400

 KCNE1 (MINK, ISK) 176261 See also LONG QT SYNDROME 150
KCNQ1 (KVLQT1) 192500 1580
JOB SYNDROME   See HYPERIMMUNOGLOBULIN E RECURRENT INFECTION SYNDROME (AUTOSOMAL DOMINANT)      

JOHANSON-BLIZZARD SYNDROME
» NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS

243800

UBR1 (UBIQUITIN-PROTEIN LIGASE E3 COMPONENT N-RECOGNIN 1)

605981

  

200
JOUBERT SYNDROME, TYPE 3 608629 AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERIN)
 608894    2600
JOUBERT SYNDROME, TYPE 4 609583 NPHP1 (NEPHROCYSTIN 1) 607100   600
JOUBERT SYNDROME, TYPE 5 610188 CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6) 610142   900
JOUBERT SYNDROME, TYPE 6 610688 TMEM67 (MKS3, MECKELIN, TRANSMEMBRANE PROTEIN 67) 609884   2600
JOUBERT SYNDROME, TYPE 7 611560 RPGRIP1L (RPGRIP1-LIKE) 610937   2600
JOUBERT SYNDROME, TYPE 8 612291 ARL13B (ADP-RIBOSYLATION FACTOR-LIKE 13B, ARL2-LIKE PROTEIN 1) 608922   1300
JUBERG-HELLMAN SYNDROME   See EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, TYPE 9, EIEE9      
JUBERG-MARSIDI SYNDROME
» MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)		 309590 ATRX (XNP) 300032 Blood in RNA PAX tubes 1500
JUVENILE MYELOMONOCYTIC LEUKEMIA, JMML 607785 PTPN11 176876 Exons 3 and 13 300
JUVENILE NEPHRONOPHTHISIS WITH LEBER AMAUROSIS   See SENIOR-LOKEN SYNDROME      
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
» POLYPOSIS, GENERALIZED JUVENILE, WITH PULMONARY ARTERIOVENOUS MALFORMATION		 175050 SMAD4 (DPC4) 600993   850
JUVENILE POLYPOSIS SYNDROME 174900

BMPR1A (BONE MORPHOGENETIC PROTEIN RECEPTOR, TYPE 1A, ACTIVIN A RECEPTOR, TYPE II-LIKE KINASE 3, ACVRLK3)

 601299   2100
SMAD4 (DPC4) 600993   850
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

K

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro
KABUKI SYNDROME
» NIIKAWA-KUROKI SYNDROME

147920

 MLL2 (MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA 2; ALR) 602113   2400
KALLMANN SYNDROME, TYPE 1, KAL1
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 1
» DYSPLASIA OLFACTOGENITALIS OF DE MORSIER
» ANOSMIC HYPOGONADISM		 308700 KAL1 (ADHESION MOLECULE-LIKE, X-LINKED, ANOSMIN 1)
 308700    1400
KALLMANN SYNDROME TYPE 2, KAL2 
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 2		 147950 FGFR1 136350

Whole Gene

 1100
KALLMANN SYNDROME, TYPE 3, KAL3
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 3		 244200 PROKR2 (PROKINETICIN RECEPTOR 2; G PROTEIN-COUPLED RECEPTOR 73-LIKE 1) 607123   400
KALLMANN SYNDROME, TYPE 4, KAL4
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 4		 610628 PROK2 (PROKINETICIN 2) 607002   600
KARAK SYNDROME 608395 PLA2G6 (PHOSPHOLIPASE A2, GROUP 6) 603604   1600
KARTAGENER SYNDROME
» DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
» SIEWERT SYNDROME		 244400 DNAH5 (DYNEIN, AXONEMAL, HEAVY CHAIN 5) 603335 All 61 known Mutations in DNAH5 and DNAI1 800
DNAI1 (DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1) 604366 All 61 known Mutations in DNAH5 and DNAI1 800
KELLEY-SEEGMILLER SYNDROME   See METHYLMALONICACIDURIA DUE TO MCM DEFICIENCY      

KENNEDY DISEASE
» SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA

313200

AR (ANDROGEN RECEPTOR)

313700

Repeat

 150
KENNY-CAFFEY SYNDROME, TYPE 1, KCS1 (AUTOSOMAL RECESSIVE) 244460 TBCE (TUBULIN-SPECIFIC CHAPERONE E) 604934 Whole Gene or 12 bp Deletion in Exon 2 Whole Gene: 950
12 bp Deletion: 250

KERATITIS

148190

PAX6 (PAIRED BOX GENE 6)

607108

Whole Gene Sequencing or Deletion Analysis (MLPA)

 Whole Gene: 450
MLPA: 250

KERATITIS-ICHTHYOSIS-DEAFNESS

148210

GJB2 (CONNEXIN 26, CX26)

121011

.

 200
KERATOCONUS 1, KTCN1 148300 VSX1 (VISUAL SYSTEM HOMEOBOX GENE 1, ZEBRAFISH, HOMOLOG OF)     850
KERATOSIS FOLLICULARIS . See DARIER-WHITE DISEASE .    
KERATOSIS PALMOPLANTARIS STRIATA, TYPE 2 125647 DSP (DESMOPLAKIN) 125647 See also PKP2, DSP, DSG2, DSC2 PANEL 500
KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS   See SCHOPF-SCHULZ-PASSARGE SYNDROME      
KETO ACID DECARBOXYLASE DEFICIENCY   See MAPLE SYRUP URINE DISEASE      
KETOTIC HYPERGLYCINEMIA   See PROPIONIC ACIDEMIA      
KINDLER SYNDROME
» POIKILODERMA, HEREDITARY ACROKERATOTIC
» BULLOUS ACROKERATOTIC POIKILODERMA OF KINDLER AND WEARY
» POIKILODERMA, CONGENITAL, WITH BULLAE, WEARY TYPE		 173650 FERMT1 (FERMITIN FAMILY (DROSOPHILA) HOMOLOG 1; KIND1; KINDLIN 1) 607900   1500
KING SYNDROME . See MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1, MHS1 . . .

KINKY HAIR DISEASE

.

See MENKES DISEASE

.

.

  
KJER TYPE OPTIC ATROPHY   See OPTIC ATROPHY 1      
KLEEFSTRA SYNDROME
» CHROMOSOME 9q34.3 DELETION SYNDROME

610253

 EHMT1 (EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EUHMTASE1) 607001   2200

KLEIN-WAARDENBURG SYNDROME

.

See WAARDENBURG SYNDROME

.

.

  

KNIEST DYSPLASIA

156550

COL2A1

120140

.

 1250
KOK DISEASE   See HYPEREKPLEXIA      
KOSTMANN DISEASE   See NEUTROPENIA, SEVERE CONGENITAL, TYPE 3 (AUTOSOMAL RECESSIVE)      
KOSTMANN DISEASE   See NEUTROPENIA, SEVERE CONGENITAL, SCN      
KOWARSKI SYNDROME   See PITUITARY DWARFISM 4      

KRABBE DISEASE
» GLOBOID CELL LEUKODYSTROPHY
» GALACTOSYLCERAMIDE BETA-GALACTOSIDASE DEFICIENCY
» GALACTOCEREBROSIDASE DEFICIENCY

245200

GALC (GALACTOSYL CERAMIDASE, GALACTOCEREBROSIDASE)

606890

   600
KRAUSE-KIVLIN SYNDROME   See PETERS-PLUS SYNDROME      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

L

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro
LABILE FACTOR DEFICIENCY   See FACTOR V DEFICIENCY      
LACTASE NONPERSISTENCE   See LACTOSE INTOLERANCE      
LACTIC ACIDOSIS, FATAL INFANTILE 245400 SUCLG1 (SUCCINATE-CoA LIGASE, ALPHA SUBUNIT; SUCCINATE-CoA LIGASE, ADP-FORMING, ALPHA SUBUNIT; SUCLA1) 611224   650
LACTIC ACIDOSIS, FINNISH, WITH HEPATIC HEMOSIDEROSIS . See GRACILE SYNDROME      

LACTOSE INTOLERANCE
» HYPOLACTASIA
» DISACCHARIDE INTOLERANCE
» ADULT LACTASE DEFICIENCY
» LACTASE NONPERSISTENCE

 223100

LCT (LACTASE)

 603202 T13910C 260
LAFORA DISEASE   See MYOCLONIC EPILEPSY OF LAFORA      
LAING DISTAL MYOPATHY   See MYOPATHY, DISTAL 1, MPD1      

LAMELLAR ICHTHYOSIS

.

See COLLODION FETUS

.

.

  
LAMELLAR ICHTHYOSIS, TYPE 2   See ICHTHYOSIS, LAMELLAR, 2, LI2      

LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

.

See FACIO-SCAPULOHUMERAL MUSCULAR DYSTROPHY

.

.

  
LANGER MESOMELIC DYSPLASIA
» DYSCHONDROSTEOSIS, HOMOZYGOUS
» MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE		 249700  SHOX (SHORT STATURE HOMEOBOX) 312865 Whole Gene or MLPA for Deletions-Duplications of SHOX and PAR1 Whole Gene: 700
MLPA: 700
LARON SYNDROME   See PITUITARY DWARFISM 2      
LARSEN SYNDROME (AUTOSOMAL DOMINANT) 150250 FLNB (FILAMIN B) 663381   1900
LCAT DEFICIENCY   See LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY      
LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1 604210 CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1) 604210   600
LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1
» RETINAL BLINDNESS, CONGENITAL		 204000 CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6) 610142   900
GUCY2D (GUANYLATE CYCLASE 2D, MEMBRANE) 600179   700
RPGRIP1 (RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN, RPGR-INTERACTING PROTEIN) 605446   700
LEBER CONGENITAL AMAUROSIS, TYPE 2, LCA2 204100 RPE65 (RETINAL PIGMENT EPITHELIUM-SPECIFIC PROTEIN, 65-KD) 180069   500
LEBER CONGENITAL AMAUROSIS, TYPE 3, LCA3
» RETINITIS PIGMENTOSA, JUVENILE, SPATA7-RELATED
» AMAUROSIS CONGENITA OF LEBER 3		 604232

RDH12 (RETINOL DEHYDROGENASE 12)

608830   500
SPATA7 (SPERMATOGENESIS-ASSOCIATED PROTEIN 7) 609868   500
LEBER CONGENITAL AMAUROSIS, TYPE 4, LCA4
» RETINITIS PIGMENTOSA, JUVENILE, AIPL1-RELATED
» CONE-ROD DYSTROPHY, AIPL1-RELATED		 604393 AIPL1 (ARYLHYDROCARBON-INTERACTING RECEPTOR PROTEIN-LIKE 1) 604392   400
LEBER CONGENITAL AMAUROSIS, TYPE 5, LCA5 604537 LCA5 (LEBERCILIN) 611408   250
LEBER CONGENITAL AMAUROSIS, TYPE 7, LCA7

613829

 CRX (CONE-ROD HOMEOBOX-CONTAINING GENE) 602225   350
LEBER CONGENITAL AMAUROSIS, TYPE 11, LCA11 146690 IMPDH1 (IMP DEHYDROGENASE 1;INOSINE-5-PRIME-MONOPHOSPHATE DEHYDROGENASE, TYPE 1) 146690   550
LEBER CONGENITAL AMAUROSIS, TYPE 15, LCA15 613843 TULP1 (TUBBY-LIKE PROTEIN 1) 602280   500
LEBER CONGENITAL AMAUROSIS, TYPE 16, LCA16 614186 KCNJ13 (POTASSIUM CHANNEL, INWARDLY RECTIFYING, SUBFAMILY J, MEMBER 13; INWARDLY RECTIFYING POTASSIUM CHANNEL Kir7.1) 603208   350
LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY
» LCAT DEFICIENCY
» NORUM DISEASE

245900

 LCAT (LECITHIN:CHOLESTEROL ACYLTRANSFERASE)

606967

   450
LEFT VENTRICULAR OUTFLOW TRACT OBSTRUCTION . TAB2 (TAK1-BINDING PROTEIN 2; MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 7-INTERACTING PROTEIN 2; MAP3K7IP2; TGF-BETA ACTIVATED KINASE 1) 605101   450
LEIGH SYNDROME 256000 BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE) 603647 . 600
COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE) 602125 . 650

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

 603646 . 1200
NDUFS1 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 75-KD SUBUNIT) 157655 . 1200
NDUFS3 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3, NADH-COENZYME Q REDUCTASE, 30-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT) 603846 . 1200
NDUFS4 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 4, NADH-COENZYME Q REDUCTASE, 18-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 18-KD SUBUNIT, AQDQ) 602694 . 1200
NDUFS7 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 7, NADH-COENZYME Q REDUCTASE, 20-KD COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 20-KD SUBUNIT, PSST) 601825 . 1200
NDUFS8 (NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 8, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 23-KD SUBUNIT, TYKY) 602141 . 1200
NDUFV1 (NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 1, COMPLEX 1, MITOCHONDRIAL RESPIRATORY CHAIN, 51-KD SUBUNIT, UQOR1) 161015 . 1200
PDHA1 (PYRUVATE DEHYDROGENASE COMPLEX, E1-ALPHA POLYPEPTIDE 1) 300502   1100
SCO2 604272   250
SDHA (SUCCINATE DEHYDROGENASE COMPLEX, SUBUNIT A, FLAVOPROTEIN, SUCCINATE DEHYDROGENASE 2, FLAVOPROTEIN SUBUNIT; SDH2) 600857 . 1200
SURF1 (SURFEIT 1)
 185620 . 600

LEOPARD SYNDROME, TYPE 1

151100

PTPN11

176876

Whole Gene

 700
LEOPARD SYNDROME, TYPE 2 611554 RAF1 (V-RAF-1 MURINE LEUKEMIA VIRAL ONCOGENE HOMOLOG 1) 164760   300

LEPRECHAUNISM
» DONOHUE SYNDROME

 246200 INSR (INSULIN RECEPTOR) 147670   1300
LERI-WEILL DYSCHONDROSTEOSIS
» DYSCHONDROSTEOSIS
» MADELUNG DEFORMITY
 127300  SHOX (SHORT STATURE HOMEOBOX) 312865 Whole Gene or MLPA for Deletions-Duplications of SHOX and PAR1 Whole Gene: 700
MLPA: 700

LESCH - NYHAN SYNDROME, LNS
» HYPOXANTHINE GUANINE PHOSPHORIBOSYLTRANSFERASE 1 DEFICIENCY
» HPRT1 DEFICIENCY
» HPRT DEFICIENCY

300322

 HPRT1 (HYPOXANTHINE GUANINE PHOSPHORIBOSYL TRANSFERASE 1, HGPRT) 308000   400
LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE 611890 GLE1 (GLE1, S. CEREVISIAE, HOMOLOG-LIKE) 603371   1000
LEUKEMIA, ACUTE MYELOGENOUS   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   400
LEUKEMIA, ACUTE MYELOID, AML 601626 CEBPA (CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; C/EBP-ALPHA) 116897   350

LEUKOCYTE ADHESION DEFICIENCY, TYPE 1, LAD
» LFA1 IMMUNODEFICIENCY

 116920

ITGB2 (INTEGRIN, BETA-2)

 600065   1700
LEUKOCYTE ADHESION DEFICIENCY, TYPE 2C   See CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2C, CDG2C      
LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET (AUTOSOMAL DOMINANT), ADLD
» PELIZAEUS-MERZBACHER DISEASE (AUTOSOMAL DOMINANT) OR LATE-ONSET TYPE, FORMERLY		 169500 LMNB1 (LAMIN B1) 150340   350

LEUKODYSTROPHY, HYPOMYELINATING, TYPE 5
» HYPOMYELINATION AND CONGENITAL CATARACT

 610532 FAM126A (FAMILY WITH SEQUENCE SIMILARITY 126, MEMBER A; DOWNREGULATED BY CTNNB1, PROTEIN A; DRCTNNB1A; HYCCIN) 610531   1000
LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY   See BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE      
LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
» MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY		 611105 DARS2 (ASPARTYL-tRNA SYNTHETASE 2) 610956   1600
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B1 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1) 606686   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B2 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 2) 606454   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B3 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 3) 606273   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B4 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 4) 606687   520
LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896 EIF2B5 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 5) 603945   520
LEWY BODY DEMENTIA 127750 SNCA (ALPHA SYNUCLEIN) 163890 Whole Gene or Deletions Whole Gene: 450
Deletions: 450
LEWY BODY PARKINSONISM   See PARKINSON DISEASE, TYPE 1, PARK1 (AUTOSOMAL DOMINANT)      
LEYDIG CELL HYPOPLASIA WITH MALE PSEUDOHERMAPHRODITISM . 

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   		 152790   1000
LFA1 IMMUNODEFICIENCY   See LEUKOCYTE ADHESION DEFICIENCY, TYPE 1, LAD      

LHERMITTE-DUCLOS DISEASE

.

See COWDEN DISEASE

.

.

  
LIDDLE SYNDROME
» PSEUDOALDOSTERONISM		 177200 SCNN1B 600760   900
SCNN1G (SODIUM CHANNEL, NONVOLTAGE-GATED 1, GAMMA SUBUNIT, SCNEG) 600761   900

LI-FRAUMENI SYNDROME 1

151623

TP53 (TUMOR PROTEIN p53)

191170

Whole Gene or Exons 5-8

 Whole Gene: 350
Exons 5-8: 250
LI-FRAUMENI SYNDROME 2 609265 CHEK2 (CHECKPOINT KINASE 2) 604373   800

LIMB-MAMMARY SYNDROME

603543
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication Whole Gene: 1500
Deletion-Duplication: 600
LIMB/PELVIS-HYPOPLASIA/APLASIA SYNDROME   See ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY      
LIPA DEFICIENCY   See WOLMAN DISEASE      
LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO   See MAPLE SYRUP URINE DISEASE      
LIPOATROPHY WITH DIABETES, HEPATIC STEATOSIS, HYPERTROPHIC CARDIOMYOPATHY AND LEUKOMELANODERMIC PAPULES, LDHCP 608056 LMNA (LAMIN A/C) 150330   700
LIPOCALCINOGRANULOMATOSIS   See TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL      
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
» BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1
» BRUNZELL SYNDROME, AGPAT2-RELATED		 608594 AGPAT2 (1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2) 603100   550
LIPODYSTROPHY, DUNNIGAN TYPE . See LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, FPLD2 .    
LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2, FPLD2
» LIPODYSTROPHY, DUNNIGAN TYPE
 151660 LMNA (LAMIN A/C) 150330   700
LIPODYSTROPHY, TOTAL, AND ACROMEGALOID GIGANTISM   See LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2      
LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA   See MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY      
LIPOID CONGENITAL ADRENAL HYPERPLASIA 201710 CYP11A1 (CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1;CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME;CYTOCHROME P450SCC 118485   1100
LIPOMUCOPOLYSACCHARIDOSIS   See NEURAMINIDASE DEFICIENCY      
LIPOPROTEIN LIPASE DEFICIENCY   See HYPERLIPOPROTEINEMIA TYPE 1      

LISSENCEPHALY (X-LINKED)

.

See DOUBLE CORTEX SYNDROME

.

.

  

LISSENCEPHALY 1, LIS1
» SUBCORTICAL LAMINAR HETEROTOPIA
» SUBCORTICAL BAND HETEROTOPIA

607432

PAFAH1B1 (LIS1)

601545

Whole Gene or Deletions

 Whole Gene: 1100
Deletions: 350
LISSENCEPHALY 3, LIS3 611603 TUBA1A (TUBULIN, ALPHA-1A) 602529   800

LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED)

300215

ARX

300382

See also Mental Retardation Panel

 600
LIVER GLYCOGENOSIS (X-LINKED)   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
LIVER GLYCOGEN SYNTHASE DEFICIENCY   See GLYCOGEN STORAGE
DISEASE, TYPE 0		      
LIVER PHOSPHORYLASE KINASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 9A      
LOEYS-DIETZ SYNDROME 609192 TGFBR1 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 1, ALK5) 190181 See also TGFBR1 and
TGFBR2		 450
TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 2) 190182 See also TGFBR1 and
TGFBR2		 500
TGFBR1 and
TGFBR2		   650
LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS   See LOEYS-DIETZ SYNDROME, TYPE 1C      
LOEYS-DIETZ SYNDROME, TYPE 1C
» ANEURYSMS-OSTEOARTHRITIS SYNDROME, AOS
» LOEYS-DIETZ SYNDROME WITH OSTEOARTHRITIS		 613795 SMAD3 (MOTHERS AGAINST DECAPENTAPLEGIC, DROSOPHILA, HOMOLOG OF,3) 603109   1300
LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, LCHAD DEFICIENCY 609016 HADHA (HYDROXYACYL-CoA DEHYDROGENASE/3-KETOACYL-CoA THIOLASE/ENOYL-CoA HYDRATASE, ALPHA SUBUNIT, TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT
MITOCHONDRIAL TRIFUNCTIONAL PROTEIN, ALPHA SUBUNIT,
LONG-CHAIN HYDROXYACYL-CoA DEHYDROGENASE, LCHAD)		 600890 Whole Gene or 2 Common Mutations: (1528G>C and 1132C>T) Whole Gene: 1600
2 Common Mutations: 300
LONG QT SYNDROME

LONG QT PANEL 1:
- KCNQ1
- HERG

   9 Exons with Mutation Hotspots 850

LONG QT SYNDROME 1, LQT1
» ROMANO-WARD SYNDROME

192500

KCNQ1 (KVLQT1)

192500

See also LONG QT SYNDROME

 1580

LONG QT SYNDROME 2, LQT2
» ROMANO-WARD SYNDROME

152427

HERG

152427

See also LONG QT SYNDROME

 1400

LONG QT SYNDROME 3, LQT3
» ROMANO-WARD SYNDROME

603830

SCN5A

600163

 

 2800

LONG QT SYNDROME 5, LQT5
» ROMANO-WARD SYNDROME

176261

KCNE1 (MINK, ISK)

176261

 

 150

LONG QT SYNDROME 6, LQT6
» ROMANO-WARD SYNDROME

603796

KCNE2

603796

 

 150
LONG QT SYNDROME WITH SYNDACTYLY   See TIMOTHY SYNDROME      

LOU GEHRIG'S DISEASE

.

See AMYOTROPHIC LATERAL SCLEROSIS

.

.

  
LOUIS-BAR SYNDROME . See ATAXIA-TELANGIECTASIA, AT .    

LOWE OCULOCEREBRORENAL SYNDROME, OCRL 

309000

OCRL1

309000.

   800
LOWER MOTOR NEURON DEGENERATION WITH PAGET-LIKE BONE DISEASE   See INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA, IBMPFD      
LUJAN-FRYNS SYNDROME 309520 UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) 300298   1500
LUNG CANCER, SQUAMOUS CELL   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070   400
LVOT   See AORTIC VALVE DISEASE      
LYMPHEDEMA AND PTOSIS 153000 FOXC2 (FORKHEAD BOX C2) 602402   500
LYMPHEDEMA-DISTICHIASIS SYNDROME 153200 FOXC2 (FORKHEAD BOX C2) 602402   500
LYMPHEDEMA, HEREDITARY, TYPE 1
» NONNE-MILROY LYMPHEDEMA
» MILROY DISEASE
» PRIMARY CONGENITAL LYMPHEDEMA		 153100 FLT4 (FMS-LIKE TYROSINE KINASE 4, VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3, VEGFR3) 136253 10 Exons: Exons 17-26, representing 90% of reported mutations 800
LYMPHEDEMA, HEREDITARY, TYPE 2
» MEIGE LYMPHEDEMA		 153400 FOXC2 (FORKHEAD BOX C2) 602402   500
LYMPHOMA, NON-HODGKIN   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   480

LYMPHOPROLIFERATIVE SYNDROME
» LYMPHOPROLIFERATIVE DISEASE (X-LINKED)

308240

SH2D1A

308240

.

 330
LYMPHOPROLIFERATIVE SYNDROME, TYPE 2 (X-LINKED), XLP2
» XIAP DEFICIENCY		 300635 BIRC4 (BACULOVIRAL IAP REPEAT-CONTAINING PROTEIN 4; APOPTOSIS INHIBITOR 3; API3 INHIBITOR OF APOPTOSIS, X-LINKED; XIAP) 300079   1200

LYNCH CANCER FAMILY SYNDROME, TYPE 1

.

See COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 1

      

LYNCH CANCER FAMILY SYNDROME, TYPE 2

.

See COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, HNPCC, TYPE 2

.

.

  

LYSINURIC PROTEIN INTOLERANCE
» DIBASICAMINO ACIDURIA, TYPE 2

 222700

SLC7A7 (SOLUTE CARRIER FAMILY 7, MEMBER 7)

 603593    600
LYSOSOMAL ACID LIPASE DEFICIENCY   See WOLMAN DISEASE      
LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 2B      
 

 

#-A-B-C-D-E-F-G-H-I-J-K-L-M-N-O-P-Q-R-S-T-U-V-W-X-Y-Z

M

Disease Disease OMIM Gene Gene OMIM Comment Price in Euro

MACHADO-JOSEPH DISEASE

.

See SPINOCEREBELLAR ATAXIA 3

.

.

  
MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS
» MACS SYNDROME		 613075 RIN2 (RAS AND RAB INTERACTOR 2; RAB5-INTERACTING PROTEIN 2; RAS INHIBITOR JC265) 610222   850
MACROCEPHALY-AUTISM SYNDROME 605309 PTEN 601728

Whole Gene and Deletions-Duplications

 1600
MACROTHROMBOCYTOPATHY, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS   See FECHTNER SYNDROME      
MACROTHROMBOCYTOPATHY, NEPHRITIS, AND DEAFNESS   See EPSTEIN SYNDROME      
MACROTHROMBOCYTOPENIA, FAMILIAL, BERNARD-SOULIER TYPE   See BERNARD-SOULIER SYNDROME      
MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS   See MAY-HEGGLIN ANOMALY      
MACROTHROMBOCYTOPENIA (X-LINKED)   See DYSERYTHROPOIETIC ANEMIA WITH THROMBOCYTOPENIA      
MACS SYNDROME   See MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS      
MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA   See HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT      
MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF 173470 CFB (COMPLEMENT FACTOR B;PROPERDIN FACTOR B; FACTOR B; C3 PROACTIVATOR; GLYCINE-RICH BETA-GLYCOPROTEIN) 138470   900
MACULAR DEGENERATION, AGE-RELATED, TYPE 6, ARMD6 613757 RAX2 (RETINA AND ANTERIOR NEURAL FOLD HOMEOBOX-LIKE 1; Q50-TYPE RETINAL HOMEOBOX; QRX) 610362   800
MACULAR DEGENERATION, AGE-RELATED, TYPE 9, SUSCEPTIBILITY TO 611378 C3 (COMPLEMENT COMPONENT 3) 120700   1500
MACULAR DEGENERATION, JUVENILE   See STARGARDT DISEASE, TYPE 1      
MACULAR DYSTROPHY   PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605   400
MACULAR DYSTROPHY, BUTTERFLY-SHAPED PIGMENTARY   See PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM      
MACULAR DYSTROPHY, CONCENTRIC ANNULAR
» BULL'S EYE MACULAR DYSTROPHY
 153870 BEST1 (VMD2; VITELLIFORM MACULAR DYSTROPHY GENE 2; BESTROPHIN) 607854   450
MACULAR DYSTROPHY, RETINAL, TYPE 2 608051 PROM1 (PROMININ 1; PROMININ, MOUSE, HOMOLOG-LIKE 1; PROML1) 604365   600

MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET
» FOVEOMACULAR DYSTROPHY, ADULT-ONSET

 608161 PRPH2 (PERIPHERIN 2, MOUSE, HOMOLOG OF, RDS) 179605   400
MACULAR DYSTROPHY, VITELLIFORM, VMD
» BEST MACULAR DYSTROPHY
 153700 BEST1 (VMD2; VITELLIFORM MACULAR DYSTROPHY GENE 2; BESTROPHIN) 607854   450
MACULAR DYSTROPHY WITH FLECKS, TYPE 1   See STARGARDT DISEASE, TYPE 1      
MACULAR DYSTROPHY WITH FLECKS, TYPE 3   See STARGARDT DISEASE, TYPE 3      
MACULOPATHY, IMPG2-RELATED   See RETINITIS PIGMENTOSA, TYPE 56, RP56      
MADELUNG DEFORMITY   See LERI-WEILL DYSCHONDROSTEOSIS      
MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF   See HYPOMAGNESEMIA, PRIMARY      
MAJEWSKI SYNDROME   See SHORT RIB-POLYDACTYLY SYNDROME, TYPE 2      
MALATTIA LEVENTINESE   See DOYNE HONEYCOMB RETINAL DYSTROPHY      
MALE PSEUDOHERMAPHRODITISM DUE TO 5–ALPHA-REDUCTASE DEFICIENCY   See PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PPSH      
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1, MHS1
» KING SYNDROME
 145600 RYR1 (RYANODINE RECEPTOR 1) 180901 41 Exons: Exons 2, 3, 6, 8-15, 17, 34, 38-40, 42-48, 51, 52, 67, 71, 73, 85, 86, 90, 94, 95, 97, 98-104 2500

MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5, MHS5

601887

CACNA1S (CACNL1A3)

114208

Exons 11 and 30, including the R528H, R1239H and R1239G Mutations

 350

MALIGNANT MELANOMA, CMM3

609048

CDK4

123829

Whole Gene or Exon 2

 Whole Gene: 800
Exon 2: 250

MALIGNANT MELANOMA WITH NEURAL CELL TUMORS
» MELANOMA-ASTROCYTOMA SYNDROME

155755

CDKN2A (CYCLIN-DEPENDENT KINASE INHIBITOR 2A; P16; CDKN2)

600160

.

 380
MALONYL-CoA DECARBOXYLASE DEFICIENCY

248360

 MLYCD (MALONYL-CoA DECARBOXYLASE) 606761   600
MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, MADA
» CRANIOMANDIBULAR DERMATODYSOSTOSIS 		 248370 LMNA (LAMIN A/C) 150330   700
MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY
» LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA

608612

 ZMPSTE24 (ZINC METALLOPROTEINASE STE24) 606480   690
MANDIBULOFACIAL DYSOSTOSIS . See TREACHER COLLINS-FRANCESCHETTI SYNDROME (TCOF) . . .
MANNOSE-BINDING PROTEIN DEFICIENCY . MBL2 (LECTIN, MANNOSE-BINDING, SOLUBLE, 2, MANNAN-BINDING PROTEIN,
COLLECTIN 1)
 154545 

Whole Gene or
5 Mutations: ARG52CYS, GLY54ASP, GLY57GLU, -550G>C and -221G>C

 Whole Gene: 500
5 Mutations: 250
MANNOSEPHOSPHATE ISOMERASE DEFICIENCY   See CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 1B, CDG1B      
MANNOSIDOSIS, BETA A, LYSOSOMAL
» BETA-MANNOSIDASE DEFICIENCY		 248510 MANBA (MANNOSIDASE, BETA A, LYSOSOMAL) 609489   1400

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY

 248600

BCKDHA (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, ALPHA POLYPEPTIDE)

 608348    1000

BCKDHB (BRANCHED-CHAIN KETO ACID DEHYDROGENASE E1, BETA POLYPEPTIDE)

 248611    950
BCKDHA, BCKDHB, DBT   2000
DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT) 248610 Whole Gene or Deletions-Duplications Whole Gene: 1100
Deletions-Duplications: 600
DLD (DIHYDROLIPOAMIDE DEHYDROGENASE; BRANCHED CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX, E3 COMPONENT; PYRUVATE DEHYDROGENASE COMPONENT E3; GLYCINE CLEAVAGE SYSTEM L PROTEIN) 238331   1800
MARBLE BONES (AUTOSOMAL DOMINANT)   See OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2      
MARBLE BONES (AUTOSOMAL RECESSIVE) . See OSTEOPETROSIS (AUTOSOMAL RECESSIVE) .    
MARBLE BRAIN DISEASE   See OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS      
MARFAN-LIKE CONNECTIVE TISSUE DISORDER   See MARFAN SYNDROME, TYPE 2, MFS2      
MARFAN SYNDROME, TYPE 1, MFS1 154700 FBN1 (FIBRILLIN1) 134797 Whole Gene or Deletions-Duplications

At least 20mg DNA is needed 		 Whole Gene: 1400
Deletions-Duplications: 400

MARFAN SYNDROME, TYPE 2, MFS2
» MARFAN-LIKE CONNECTIVE TISSUE DISORDER

 154705 TGFBR2 (TRANSFORMING GROWTH FACTOR-BETA RECEPTOR, TYPE 2) 190182 See also TGFBR1 and
TGFBR2		 500
TGFBR1 and
TGFBR2		   650
MARINESCO-SJOGREN SYNDROME 248800 SIL1 (SIL1, S. CEREVISIAE, HOMOLOG OF, BIP-ASSOCIATED PROTEIN, BAP) 608005   850
MAROTEAUX-LAMY SYNDROME   See MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6      
MARSHALL SYNDROME 154780 COL11A1 (COLLAGEN, TYPE 11, ALPHA-1) 120280 Turn-around-time: 30 Weeks 3000

MASA SYNDROME

.

See CRASH SYNDROME

.

.

  
MASS PHENOTYPE 604308 FBN1 (FIBRILLIN1) 134797 Whole Gene or Deletions-Duplications

At least 20mg DNA is needed 		 Whole Gene: 1400
Deletions-Duplications: 400
MASS SYNDROME   See MASS PHENOTYPE      
MAT DEFICIENCY   See METHIONINE ADENOSYLTRANSFERASE DEFICIENCY      
MATURITY-ONSET DIABETES   See DIABETES MELLITUS, NONINSULIN-DEPENDENT, NIDDM      

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1, MODY1

125850

HNF4A

600281

 Whole Gene Sequencing or Whole Gene Sequencing of HNF1A and HNF4A with Deletion-Duplication Testing of HNF1A and HNF4A Whole Gene: 690
Whole Gene + Deletion-Duplication of 2 Genes: 1000

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2, MODY2

125851

GCK (GLUCOKINASE)

138079

 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 600
Deletion-Duplication: 350

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3, MODY3

600496

HNF1A (TCF1)

142410

Whole Gene or
Deletion-Duplication

 Whole Gene: 700
Deletion-Duplication: 350

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4, MODY4

606392

PDX1 (PANCREAS / DUODENUM HOMEOBOX PROTEIN 1; INSULIN PROMOTER FACTOR 1; IPF1; HOMEODOMAIN TRANSCRIPTION FACTOR IPF1; SOMATOSTATIN TRANSCRIPTION FACTOR 1; STF1)

600733

.

 300

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 5, MODY5

604284

HNF1B (HNF2, TCF2)

189907

 Whole Gene Sequencing or Deletion-Duplication Testing  Whole Gene: 600
Deletion-Duplication: 350
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6, MODY6 606394  NEUROD1 (BETA2) 601724 . 300
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7, MODY7 610508 KLF11 (KRUPPEL-LIKE FACTOR 11;TRANSFORMING GROWTH FACTOR-BETA-INDUCIBLE EARLY GROWTH RESPONSE 2; TIEG2) 603301   300
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION, MODY8
» DIABETES-PANCREATIC EXOCRINE DYSFUNCTION SYNDROME		 609812 CEL (CARBOXYL-ESTER LIPASE; LYSOPHOSPHOLIPASE; BILE SALT-STIMULATED LIPASE) 114840   770
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9, MODY9 612225 PAX4 (PAIRED BOX GENE 4) 167413   550
MAY-HEGGLIN ANOMALY
» DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS
» MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS		 155100 MYH9 (MYOSIN, HEAVY CHAIN 9) 160775   1400
MCARDLE DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 5      
MCCUNE-ALBRIGHT SYNDROME
» ALBRIGHT SYNDROME
» POLYOSTOTIC FIBROUS DYSPLASIA		 174800 GNAS (GNAS1, ALPHA SUBUNIT OF Gs, ALPHA SUBUNIT OF ADENYLATE CYCLASE STIMULATORY PROTEIN) 139320 Whole Gene or 2 Common Mutations: R201H and R201C Whole Gene: 790
2 Common Mutations: 160
MCKUSICK-KAUFMAN SYNDROME
» HYDROMETROCOLPOS SYNDROME
» HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION		 236700 BBS6 (MKKS, MKS) 604896   700
MCM DEFICIENCY   See METHYLMALONICACIDURIA DUE TO MCM DEFICIENCY      
MDR3 DEFICIENCY   See CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3      
MECKEL-GRUBER SYNDROME   See MECKEL SYNDROME, TYPE 1      
See MECKEL SYNDROME, TYPE 3      

MECKEL SYNDROME, TYPE 1
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
» MECKEL-GRUBER SYNDROME

 249000 MKS1 609883   1200
MECKEL SYNDROME, TYPE 3
» DYSENCEPHALIA SPLANCHNOCYSTICA
» GRUBER SYNDROME
» MECKEL-GRUBER SYNDROME		 607361 TMEM67 (MKS3, MECKELIN, TRANSMEMBRANE PROTEIN 67) 609884   2600
MECKEL SYNDROME, TYPE 4 611134 CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6) 610142   900
MECKEL SYNDROME, TYPE 5 611561 RPGRIP1L (RPGRIP1-LIKE) 610937   2600
MED-IDDM SYNDROME   See EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS      

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD

201450

ACADM

607008

Whole Gene or 1 Mutation: K329E

 Whole Gene: 990
1 Mutation: 250
MEDULLARY CYSTIC KIDNEY DISEASE 2, MCKD2 603860
 UMOD (UROMODULIN) 191845   700

MEDULLARY THYROID CARCINOMA, MTC

155240

RET (RET KINASE)

164761

Exons 10,11, 13-16

 400

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS

605908

MLC1

605908

Whole Gene and Deletions-Duplications

 1150
MEGALOBLASTIC ANEMIA, THIAMINE-RESPONSIVE, WITH DIABETES MELLITUS AND SENSORINEURAL DEAFNESS   See THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, TRMA      
MEIGE LYMPHEDEMA   See LYMPHEDEMA, HEREDITARY, TYPE 2      

MELANOMA-ASTROCYTOMA SYNDROME

.

See MALIGNANT MELANOMA WITH NEURAL CELL TUMORS

.

.

  
MELANOMA, MALIGNANT, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757   480
MELNICK-NEEDLES SYNDROME
» OSTEODYSPLASTY OF MELNICK AND NEEDLES		 309350 FLNA (FILAMIN A) 300017 Exon 22 430
MELORHEOSTOSIS
» MELORHEOSTOSIS WITH OSTEOPOIKILOSIS		 155950 LEMD3 (LEM DOMAIN-CONTAINING 3, MAN1) 607844   600
MELORHEOSTOSIS WITH OSTEOPOIKILOSIS   See MELORHEOSTOSIS      

MEN

.

See MULTIPLE ENDOCRINE NEOPLASIA

.

.

  

MENKES DISEASE
» KINKY HAIR DISEASE

309400

ATP7A

300011

Whole Gene or Deletion-Duplication

 Whole Gene: 1700
Deletion-Duplication: 400
MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA
» MICPCH SYNDROME		 300749 CASK (CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE; VERTEBRATE LIN2 HOMOLOG; CAMGUK, DROSOPHILA, HOMOLOG OF)  300172   1800
MENTAL RETARDATION (AUTOSOMAL RECESSIVE), TYPE 7, MRT7 611093 TUSC3 (TUMOR SUPPRESSOR CANDIDATE 3) 601385   950
MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM   See OPITZ-KAVEGGIA SYNDROME      
MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME   See MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE      
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) .  MRX-Panel:
ARX,
PQBP1,
JARID1C,
TM4SF2,
FACL4,
DLG3,
FTSJ1,
ZNF41		 .
300382
300463
314690
300096
300157
300189
300499
314995		   2900
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 300189 DLG3 300189 See also Mental Retardation Panel 950
MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 314995 ZNF41 (ZINC FINGER PROTEIN 41) 314995 See also Mental Retardation Panel

680
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 9, MRX9 309549 FTSJ1 (FTSJ HOMOLOG 1) 300499 See also Mental Retardation Panel 600
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE16, MRX16  . See NONSPECIFIC MENTAL RETARDATION (X-LINKED), MRX16 . . .

MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE19, MRX19

300075

RPS6KA3 (RSK2)

300075

.

 1100
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 21, MRX21
» MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 34, MRX34		 300143 IL1RAPL1 (INTERLEUKIN 1 RECEPTOR ACCESSORY PROTEIN-LIKE 1; INTERLEUKIN 1 RECEPTOR 8) 300206   850
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 34, MRX34   See MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 21, MRX21      
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 44, MRX44 300501 FTSJ1 (FTSJ HOMOLOG 1) 300499 See also Mental Retardation Panel 600
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54 300412 ARX 300382 See also Mental Retardation Panel 600
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE55, MRX55 . See MENTAL RETARDATION, SYNDROMIC (X -LINKED), TYPE3, MRXS3 . . .
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 58, MRX58 300210 TM4SF2 (TRANSMEMBRANE 4 SUPERFAMILY, MEMBER 2)
300096 See also Mental Retardation Panel 580
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 59, MRX59 300630 AP1S2 (ADAPTOR-RELATED PROTEIN COMPLEX 1, SIGMA-2 SUBUNIT; CLATHRIN-ASSOCIATED/ASSEMBLY/ADAPTOR PROTEIN, SMALL 1-LIKE) 300629   480
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 63, MRX63 300387 FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) 300157 See also Mental Retardation Panel 680
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 68, MRX68 300387 FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4) 300157 See also Mental Retardation Panel 680
MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1 . See PARTINGTON SYNDROME, MRXS1 . . .

MENTAL RETARDATION, SMITH-FINEMAN-MYERS SYNDROME

..

See SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME

.

.

  
MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS 613443 MEF2C (MADS BOX TRANSCRIPTION ENHANCER FACTOR 2, POLYPEPTIDE C) 600662 Whole Gene Sequencing 1250
MENTAL RETARDATION, SYNDROMAL, WITH INTERMITTENT HYPERVENTILATION   See PITT-HOPKINS SYNDROME      
MENTAL RETARDATION, SYNDROMIC (X –LINKED) 300534 SMCX (JARID1C) 314690 See also Mental Retardation Panel 980
MENTAL RETARDATION, SYNDROMIC (X-LINKED), CHRISTIANSON TYPE
» MENTAL RETARDATION, MICROCEPHALY, EPILEPSY, AND ATAXIA SYNDROME
» ANGELMAN-LIKE SYNDROME (X-LINKED)
 300243 SLC9A6 (SOLUTE CARRIER FAMILY 9, ISOFORM A6) 300231   1400

MENTAL RETARDATION, SYNDROMIC (X -LINKED), TYPE3, MRXS3
» SUTHERLAND-HAAN MENTAL RETARDATION SYNDROME (X-LINKED)
» MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE55, MRX55

309470

PQBP1 (POLYGLUTAMINE-BINDING PROTEIN 1)

300463

See also Mental Retardation Panel

 500
MENTAL RETARDATION SYNDROMIC (X-LINKED), TYPE 14, MRXS14 300676 UPF3B (UPF3, YEAST, HOMOLOG OF, B; REGULATOR OF NONSENSE TRANSCRIPTS 3B) 300298   1500
MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (X-LINKED)
» MENTAL RETARDATION (X-LINKED), TYPE 60, MRX60		 300486 OPHN1 (OLIGOPHRENIN 1, OPN1) 300127   1700
MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)   See JUBERG-MARSIDI SYNDROME      
MENTAL RETARDATION WITH HYPOTONIA (X-LINKED)   See ALLAN-HERNDON-DUDLEY SYNDROME      

MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM

300055

MECP2

300005

Whole Gene or Deletion Analysis (MLPA)

 Whole Gene: 500
Deletion Analysis: 420
MENTAL RETARDATION, WITH SEIZURES, SHORT STATURE AND MIDFACE HYPOPLASIA (X-LINKED) 300397 SLC6A8 (CREATINE TRANSPORTER, CT1) 300036 Blood in RNA PAX tubes 1500
MENTAL RETARDATION (X-LINKED), TYPE 60, MRX60   See MENTAL RETARDATION WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE (X-LINKED)      

MENTAL RETARDATION (X-LINKED), WITH ISOLATED GROWTH HORMONE DEFICIENCY, MRGH

300123

SOX3 (SRY-BOX 3)

313430

.

 400
MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
 . See ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED) . . .

MESANGIAL SCLEROSIS, FAMILIAL

.

See NEPHROTIC SYNDROME, EARLY-ONSET, WITH DIFFUSE MESANGIAL SCLEROSIS

.

.

  
MESIODENS-CATARACT SYNDROME   See NANCE-HORAN SYNDROME      
MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL   See WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE)      
MESOMELIC DWARFISM OF THE HYPOPLASTIC ULNA, FIBULA, AND MANDIBLE TYPE   See LANGER MESOMELIC DYSPLASIA      
METACHROMATIC LEUKODYSTROPHY
» SULFATIDE LIPIDOSIS
» ARYLSULFATASE A DEFICIENCY		 250100 ARSA (ARYLSULFATASE A,  CEREBROSIDE-SULFATASE)  607574 Whole Gene Sequencing or Deletion-Duplication Testing Whole Gene: 650
Deletion-Duplication: 600
METACHROMATIC LEUKODYSTROPHY DUE TO SAP1 DEFICIENCY
» GAUCHER DISEASE DUE TO SAP2 DEFICIENCY
» PROSAPOSIN DEFICIENCY		 249900 PSAP (PROSAPOSIN) 176801   1200

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE

156500

COL10A1 (COLLAGEN, TYPE X, ALPHA1)

120110

Whole Gene

 700
METAPHYSEAL CHONDRODYSPLASIA, MCKUSICK TYPE   See CARTILAGE - HAIR HYPOPLASIA      

METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
» CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY
» CARTILAGE-HAIR HYPOPLASIA VARIANT

 250460 RMRP (MITOCHONDRIAL RNA-PROCESSING ENDORIBONUCLEASE, RNA COMPONENT OF) 157660   350
METATROPIC DWARFISM   See METATROPIC DYSPLASIA      
METATROPIC DYSPLASIA
» METATROPIC DWARFISM		 156530 TRPV4 (TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY V, MEMBER 4; VANILLOID RECEPTOR-RELATED OSMOTICALLY ACTIVATED CHANNEL; OSM9-LIKE TRANSIENT RECEPTOR POTENTIAL CHANNEL 4; TRANSIENT RECEPTOR POTENTIAL CHANNEL 12) 605427   1300
METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 250800 DIA1 (CYTOCHROME b5 REDUCTASE, CYB5R) 250800 . 890
METHIONINE ADENOSYLTRANSFERASE DEFICIENCY
» MAT DEFICIENCY
» HYPERMETHIONINEMIA, ISOLATED PERSISTENT		 250850 MAT1A (METHIONINE ADENOSYLTRANSFERASE I, ALPHA; S-ADENOSYLMETHIONINE SYNTHETASE 1, SAMS1) 610550   600
METHYLCOBALAMIN DEFICIENCY, cblG TYPE
» HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE		 250940 MTR (5-@METHYLTETRAHYDROFOLATE-HOMOCYSTEINE S-METHYLTRANSFERASE; TETRAHYDROPTEROYLGLUTAMATE METHYLTRANSFERASE) 156570   2300
METHYLCROTONYLGLYCINURIA TYPE 1   See 3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY      
METHYLCROTONYLGLYCINURIA TYPE 2   See 3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY      
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE
» VITAMIN B12 METABOLIC DEFECT WITH COMBINED DEFICIENCY OF METHYLMALONYL-CoA MUTASE AND HOMOCYSTEINE:METHYLTETRAHYDROFOLATE METHYLTRANSFERASE		 277400 MMACHC 609831   300

METHYLMALONIC ACIDURIA, cblA TYPE
» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE

 251100

MMAA

 607481   450

METHYLMALONIC ACIDURIA, cblB TYPE
» METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE

 251110

MMAB (COBALAMIN ADENOSYLTRANSFERASE)

 607568   550

METHYLMALONIC ACIDURIA DUE TO MCM DEFICIENCY
» MMA DUE TO MCM DEFICIENCY
» MCM DEFICIENCY

251000

MUT (METHYLMALONYL CoA MUTASE,MCM)

251000.

   800
METHYLMALONIC ACIDURIA, TYPE 3   See METHYLMALONYL-CoA EPIMERASE DEFICIENCY      
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE   See METHYLMALONIC ACIDURIA, cblA TYPE      
METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE   See METHYLMALONIC ACIDURIA, cblB TYPE      
METHYLMALONYL-CoA EPIMERASE DEFICIENCY
» METHYLMALONIC ACIDURIA, TYPE 3		 251120 MCEE (METHYLMALONYL-CoA EPIMERASE; METHYLMALONYL-CoA RACEMASE) 608419   300
MICPCH SYNDROME
   See MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA      
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MOPD1
» TAYBI-LINDER SYNDROME
» BRACHYMELIC PRIMORDIAL DWARFISM
» CEPHALOSKELETAL DYSPLASIA		 210710 RNU4ATAC (RNA, U4ATAC SMALL NUCLEAR; RNA, U4, SMALL NUCLEAR, AT-AC FORM; U4ATAC) 601428   250
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 2, MOPD2 210720 PCNT (PERICENTRIN; KENDRIN) 605925 Whole Gene Sequencing or Selected Exons

Whole Gene: 1950
Exons: 550
MICROCEPHALY  

MICROCEPHALY PANEL:
- MCPH1
- CENPJ
- STIL
- CDK5RAP2

   Whole Gene Sequencing and Deletion-Duplication Testing 3400
MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE   See MOWAT-WILSON SYNDROME      
MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME   See FEINGOLD SYNDROME      
MICROCEPHALY-OCULO-DIGITO-ESOPHAGEAL-DUODENAL SYNDROME   See FEINGOLD SYNDROME      
MICROCEPHALY, PRIMARY, TYPE 2, WITH OR WITHOUT CORTICAL MALFORMATIONS, (AUTOSOMAL RECESSIVE), MCPH2 604317 WDR62 (WD REPEAT-CONTAINING PROTEIN 62; C19ORF14) 613583   1900
MICROCEPHALY, PRIMARY, TYPE 5 (AUTOSOMAL RECESSIVE), MCPH5 608716 ASPM (ABNORMAL SPINDLE-LIKE, MICROCEPHALY-ASSOCIATED; MCPH5) 605481   1900
MICROCORIA-CONGENITAL NEPHROTIC SYNDROME   See PIERSON SYNDROME      
MICROPENIS . 

LHCGR (LUTEINIZING HORMONE / CHORIOGONADOTROPIN RECEPTOR, LUTROPIN-CHORIOGONADOTROPIN RECEPTOR )

   		 152790   1000
MICROPHTHALMIA . VSX2 (VISUAL SYSTEM HOMEOBOX GENE 2, ZEBRAFISH, HOMOLOG OF) .   690
MICROPHTHALMIA, ISOLATED, WITH CATARACT 2

212550

SIX6

 606326 Deletion-Duplication Testing 500
MICROPHTHALMIA, SYNDROMIC, TYPE 5, MCOPS5
» RETINAL DYSTROPHY, EARLY-ONSET, AND PITUITARY DYSFUNCTION		 610125 OTX2 (ORTHODENTICLE, DROSOPHILA, HOMOLOG OF, 2) 600037   350
MICROPOLYGYRIA WITH MUSCULAR DYSTROPHY   See FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY      
MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY   See ABETALIPOPROTEINEMIA      
MIGRAINE, FAMILIAL HEMIPLEGIC, 1
» MIGRAINE, SPORADIC HEMIPLEGIC 		141500 CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4) 601011   1200
MIGRAINE, SPORADIC HEMIPLEGIC   See MIGRAINE, FAMILIAL HEMIPLEGIC, 1      
MILLER-DIEKER LISSENCEPHALY SYNDROME, MDLS 247200 PAFAH1B1  (LIS1) 601545

Whole Gene or Deletions

 Whole Gene: 1100
Deletions: 350
MILROY DISEASE   See LYMPHEDEMA, HEREDITARY, TYPE 1      
MINICORE MYOPATHY . See CENTRAL CORE DISEASE OF MUSCLE . . .
MINICORE MYOPATHY, SEVERE CLASSIC FORM   See RIGID SPINE MUSCULAR DYSTROPHY, TYPE 1      
MISMATCH REPAIR CANCER SYNDROME
» TURCOT SYNDROME BRAIN TUMOR
» POLYPOSIS SYNDROME 1
» MMR DEFICIENCY
» MISMATCH REPAIR DEFICIENCY		 276300 PMS2 600259   800
MISMATCH REPAIR DEFICIENCY   See MISMATCH REPAIR CANCER SYNDROME      
MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY   See ALPHA-METHYLACETOACETIC ACIDURIA      
MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY   See LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION      
MITOCHONDRIAL DISEASE . WHOLE MITOCHONDRIAL GENOME   Complete Mitochondrial DNA Sequencing
» See Next Generation Sequencing Platforms		  
MITOCHONDRIAL DNA DEPLETION MYOPATHY   See MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM      
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH METHYLMALONIC ACIDURIA 612073 SUCLA2 (SUCCINATE-CoA LIGASE, ADP-FORMING, BETA SUBUNIT; ATP-SPECIFIC SUCCINYL-CoA SYNTHETASE, BETA SUBUNIT) 603921   650
MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH RENAL TUBULOPATHY 612075 RRM2B (RIBONUCLEOTIDE REDUCTASE, M2 B; RIBONUCLEOTIDE REDUCTASE SMALL SUBUNIT 2-LIKE, p53-INDUCIBLE; P53R2) 604712   700
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM 251880 DGUOK (DEOXYGUANOSINE KINASE, MITOCHONDRIAL; DGK) 601465   600
MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM 251880 MPV17 (MPV17, MOUSE, HOMOLOG OF) 137960   450
MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM
» MITOCHONDRIAL DNA DEPLETION MYOPATHY		 609560 TK2 (THYMIDINE KINASE, MITOCHONDRIAL) 188250   770

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE
» MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME
» POLYNEUROPATHY, OPHTHALMOPLEGIA, LEUKOENCEPHALOPATHY, AND INTESTINAL PSEUDOOBSTRUCTION
» POLIP SYNDROME
» MNGIE WITHOUT LEUKOENCEPHALOPATHY

 603041

TIMP (THYMIDINE PHOSPHORYLASE; ECGF1; ENDOTHELIAL CELL GROWTH FACTOR, PLATELET-DERIVED, GLIOSTATIN)

 131222 . 850
MIYOSHI MYOPATHY
» MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET (AUTOSOMAL RECESSIVE)
 254130 DYSF (DYSFERLIN) 603009   1800
MMA DUE TO MCM DEFICIENCY   See METHYLMALONICACIDURIA DUE TO MCM DEFICIENCY      
MMR DEFICIENCY   See MISMATCH REPAIR CANCER SYNDROME      
MMT SYNDROME   See FEINGOLD SYNDROME      
MNGIE WITHOUT LEUKOENCEPHALOPATHY   See MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE      

MODY

.

See MATURITY-ONSET DIABETES OF THE YOUNG

.

.

  
MOHR-TRANEBJAERG SYNDROME
» DYSTONIA-DEAFNESS SYNDROME
» DEAFNESS-DYSTONIA-OPTIC ATROPHY SYNDROME
» DEAFNESS SYNDROME, PROGRESSIVE, WITH BLINDNESS, DYSTONIA, FRACTURES, AND MENTAL DEFICIENCY		 304700 TIMM8A (TRANSLOCASE OF INNER MITOCHONDRIAL MEMBRANE 8, YEAST, HOMOLOG OF, A; DEAFNESS/DYSTONIA PEPTIDE 1; DDP1) 300356   380
MOHR - WRIEDT TYPE BRACHYDACTYLY

.

See BRACHYDACTYLY A2, BDA2

 . . .
MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY   See ALLAN-HERNDON-DUDLEY SYNDROME      
MONOSACCHARIDE MALABSORPTION   See GLUCOSE/GALACTOSE MALABSORPTION      
MORQUIO SYNDROME A   See MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A      
MORQUIO SYNDROME B   See MUCOPOLYSACCHARIDOSIS, TYPE 4B, MPS4B      
MORVAN DISEASE   See NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2, HSAN2      
MOUNT-REBACK SYNDROME   See PAROXYSMAL NONKINESIGENIC DYSKINESIA      
MOWAT-WILSON SYNDROME
» MICROCEPHALY, MENTAL RETARDATION, AND DISTINCT FACIAL FEATURES, WITH OR WITHOUT HIRSCHSPRUNG DISEASE
» HIRSCHSPRUNG DISEASE-MENTAL RETARDATION SYNDROME		 235730 ZEB2 (ZINC FINGER HOMEOBOX 1B; ZFHX1B, SMAD-INTERACTING PROTEIN 1, SMADIP1, SIP1) 605802

Whole Gene Sequencing and Deletion-Duplication Testing

600
MTHFR DEFICIENCY
» HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY		 236250 MTHFR (5,10-@METHYLENETETRAHYDROFOLATE REDUCTASE) 607093   700
MTP DEFICIENCY   See ABETALIPOPROTEINEMIA      

MUCKLE-WELLS SYNDROME

191900

CIAS1  (CRYOPYRIN)

606416

  » See Next Generation Sequencing Platforms  
MUCOLIPIDOSIS, TYPE 1, ML1   See NEURAMINIDASE DEFICIENCY      
MUCOLIPIDOSIS, TYPE 2, ML2
» I-CELL DISEASE		 252500 GNPTAB (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) 607840   1800
MUCOLIPIDOSIS, TYPE 3, ML3
» PSEUDO-HURLER POLYDYSTROPHY		 252600 GNPTAB (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, ALPHA/BETA SUBUNITS) 607840   1800
MUCOLIPIDOSIS, TYPE 3, GAMMA   See MUCOLIPIDOSIS, TYPE 3C, ML3C      
MUCOLIPIDOSIS, TYPE 3, IRANIAN VARIANT   See MUCOLIPIDOSIS, TYPE 3C, ML3C      
MUCOLIPIDOSIS, TYPE 3C, ML3C
» MUCOLIPIDOSIS, TYPE 3, IRANIAN VARIANT
» MUCOLIPIDOSIS, TYPE 3, GAMMA		 252605 GNPTG (N-ACETYLGLUCOSAMINE-1-PHOSPHOTRANSFERASE, GAMMA SUBUNIT; GNPTAG) 607838   800

MUCOLIPIDOSIS TYPE 4, ML4

252650

MCOLN1  (ML4, MUCOLYPIN)

605248

2 Common Askhenazi Mutations: IVS3-2A>G and 6.4 kb Deletion

 450

MUCOPOLYSACCHARIDOSIS, TYPE 2
» HUNTER SYNDROME

309900

IDS (IDURONATE SULFATASE)

309900

.

 750

MUCOPOLYSACCHARIDOSIS TYPE 3A, MPS3A
» SANFILIPPO SYNDROME A

252900

SGSH (HEPARAN SULFATE SULFATASE,
SULFAMIDASE, N-SULFOGLUCOSAMINE SULFOHYDROLASE)

605270

.

 500

MUCOPOLYSACCHARIDOSIS TYPE 3B, MPS3B
» SANFILIPPO SYNDROME B
» N-ACETYL-ALPHA-D-GLUCOSAMINIDASE DEFICIENCY
» NAGLU DEFICIENCY

 252920

NAGLU (N-ACETYLGLUCOSAMINIDASE, ALPHA)

 609701    750
MUCOPOLYSACCHARIDOSIS, TYPE 3C, MPS3C
» SANFILIPPO SYNDROME C
» ACETYL-CoA:ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE DEFICIENCY		 252930 HGSNAT (HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE; TRANSMEMBRANE PROTEIN 76; TMEM76) 610453 Whole Gene or Deletion-Duplication Whole Gene: 1450
Deletion-Duplication: 600
MUCOPOLYSACCHARIDOSIS, TYPE 3D, MPS3D
» SANFILIPPO SYNDROME D
» N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY		 252940 GNS (N-ACETYLGLUCOSAMINE-6-SULFATASE; GLUCOSAMINE-6-SULFATASE) 607664   1150
MUCOPOLYSACCHARIDOSIS, TYPE 4A, MPS4A
» MORQUIO SYNDROME A
» GALACTOSAMINE-6-SULFATASE DEFICIENCY		 253000 GALNS (GALACTOSAMINE-6-SULFATE SULFATASE; N-ACETYLGALACTOSAMINE-SULFATE SULFATASE) 612222  Whole Gene or Deletion-Duplication Whole Gene: 1200
Deletion-Duplication: 600
MUCOPOLYSACCHARIDOSIS, TYPE 4B, MPS4B
» MORQUIO SYNDROME B		 253010 GLB1 (GALACTOSIDASE, BETA-1; ELASTIN-BINDING PROTEIN, ELASTIN RECEPTOR 1) 611458   1300
MUCOPOLYSACCHARIDOSIS, TYPE 5, MPS5
» SCHEIE SYNDROME		 607016 IDUA (ALPHA-L-IDURONIDASE) 252800   1150
MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6
» MAROTEAUX-LAMY SYNDROME
» ARYLSULFATASE B DEFICIENCY
» N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
 253200 ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE) 253200 .  650
MUCOPOLYSACCHARIDOSIS TYPE 7, MPS7
» SLY SYNDROME
» BETA-GLUCURONIDASE DEFICIENCY		 253220 GUSB (BETA-GLUCURONIDASE) 611499   1100
MUCOPOLYSACCHARIDOSIS TYPE 9, MPS9
» HYALURONIDASE DEFICIENCY		 601492 HYAL1 (HYALURONOGLUCOSAMINIDASE 1; HYALURONIDASE 1) 607071   600
MUCOPOLYSACCHARIDOSIS, TYPE IH
» HURLER SYNDROME		 607014 IDUA (ALPHA-L-IDURONIDASE) 252800   1150
MUCOPOLYSACCHARIDOSIS, TYPE IH/S
» HURLER-SCHEIE SYNDROME		 607015 IDUA (ALPHA-L-IDURONIDASE) 252800   1150
MUCOSULFATIDOSIS   See MULTIPLE SULFATASE DEFICIENCY      
MULTICORE MYOPATHY . See CENTRAL CORE DISEASE OF MUSCLE . . .
MULTICORE MYOPATHY, SEVERE CLASSIC FORM   See RIGID SPINE MUSCULAR DYSTROPHY, TYPE 1      
MULTIMINICORE DISEASE . See CENTRAL CORE DISEASE OF MUSCLE . . .
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680 ETFA (ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE) 608053   700
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680 ETFB (ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE) 130410   500
MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680 ETFDH (ELECTRON TRANSFER FLAVOPROTEIN DEHYDROGENASE; ELECTRON TRANSFER FLAVOPROTEIN:UBIQUINONE OXIDOREDUCTASE) 231675   850
MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET   See HOLOCARBOXYLASE SYNTHETASE DEFICIENCY      
MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET   See BIOTINIDASE DEFICIENCY      
MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET   See BIOTINIDASE DEFICIENCY      
MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, MCUL1 150800 FH (FUMARATE HYDRATASE, FUMARASE)

136850

   950

MULTIPLE ENDOCRINE NEOPLASIA, TYPE 1, MEN1

131100

MEN1 (MENIN)

131100

.

 400

MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2A, MEN2A

171400

RET (RET KINASE)

164761

Exons 10,11, 13-16

 400

MULTIPLE ENDOCRINE NEOPLASIA, TYPE 2B, MEN2B

162300

RET (RET KINASE)

164761

Whole Gene or Exons 10,11, 13-16

 Whole Gene: 1090
Exons: 400
MULTIPLE ENDOCRINE NEOPLASIA, TYPE 4, MEN4 610755 CDKN1B (CYCLIN-DEPENDENT KINASE INHIBITOR 1B; p27-KIP1) 600778   300

MULTIPLE EPIPHYSEAL DYSPLASIA 1, EDM1

132400

COMP

600310

Whole Gene Sequencing

 1250
MULTIPLE EPIPHYSEAL DYSPLASIA (AUTOSOMAL RECESSIVE)   See EPIPHYSEAL DYSPLASIA, MULTIPLE, TYPE 4, EDM4      

MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME

133700

EXT1 (EXOSTOSIN 1)

133700

.

 900

MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME

133701

EXT2 (EXOSTOSIN 2)

133701

.

 900
MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT   See ESCOBAR SYNDROME      

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
» PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE

 253290 CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) 100690   650
CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE) 100730   650
MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE   See ESCOBAR SYNDROME      
MULTIPLE SULFATASE DEFICIENCY
» MUCOSULFATIDOSIS
» SULFATIDOSIS, JUVENILE, AUSTIN TYPE
 272200 SUMF1 (SULFATASE-MODIFYING FACTOR 1) 607939 .   810

MULTIPLE SYNOSTOSIS SYNDROME 1

186500

NOG (NOGGIN)

602991

.

 Upon Request
MULTIPLE SYSTEM TAUOPATHY WITH PRESENILE DEMENTIA   See FRONTOTEMPORAL DEMENTIA      
MUSCLE-EYE-BRAIN DISEASE 253280 POMGNT1 (PROTEIN O-MANNOSE BETA-1,2-N-ACETYLGLUCOSAMINYLTRANSFERASE) 606822   1200
MUSCLE GLYCOGENOSIS (X-LINKED)   See GLYCOGEN STORAGE DISEASE, TYPE 9D      
MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 7      
See GLYCOGEN STORAGE DISEASE, TYPE 9D      
MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY .. See BECKER MUSCULAR DYSTROPHY, BMD      
MUSCULAR DYSTROPHY, BENIGN CONGENITAL   See BETHLEM MYOPATHY      
MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY
» MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY		 613204 ITGA7 (INTEGRIN, ALPHA-7) 600536   1900
MUSCULAR DYSTROPHY, CONGENITAL, EICHSFELD TYPE   See RIGID SPINE MUSCULAR DYSTROPHY, TYPE 1      
MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, TYPE 1A, MDC1A 607855 LAMA2 (ALPHA-2 LAMININ, HEAVY CHAIN LAMININ 2, MEROSIN)
 156225   1200
MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION   See FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY      
MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1C, MDC1C 606612 FKRP (FUKUTIN-RELATED PROTEIN) 606596   . 500
MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D 608840 LARGE (ACETYLGLUCOSAMINYLTRANSFERASE-LIKE PROTEIN ;LIKE-GLYCOSYLTRANSFERASE) 603590   1100
MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET (AUTOSOMAL RECESSIVE)   See MIYOSHI MYOPATHY      
MUSCULAR DYSTROPHY, DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1 . See DUCHENNE-LIKE MUSCULAR DYSTROPHY, TYPE 1 . . .
MUSCULAR DYSTROPHY, DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2 . See MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D . . .
MUSCULAR DYSTROPHY, DUCHENNE MUSCULAR DYSTROPHY . See DUCHENNE MUSCULAR DYSTROPHY, DMD . . .

MUSCULAR DYSTROPHY, EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

..

See EMERY-DREYFUSS MUSCULAR DYSTROPHY (X-LINKED), EDMD

.

.

  

MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY

.

See FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD

.

.

  

MUSCULAR DYSTROPHY, LANDOUZY-DEJERINE MUSCULAR DYSTROPHY

..

See FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, FSHD

.

.

  
MUSCULAR DYSTROPHY, LIMB-GIRDLE   SGCA, SGCB, SGCD, SGCG  

Deletions-Duplications

 350
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A, LGMD1A

159000

 TTID (TITIN IMMUNOGLOBULIN DOMAIN PROTEIN, MYOTILIN, MYOT) 604103 . 700

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, LGMD1B

159001

 LMNA (LAMIN A/C) 150330   700

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C, LGMD1C 

607801

 CAV3 (CAVEOLIN 3) 601253   200

MUSCULAR DYSTROPHY, LIMB- GIRDLE, TYPE 2A, LGMD2A

253600

CAPN3 (CALPAIN 3)

114240

.

 950
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, LGMD2B 253601 DYSF (DYSFERLIN) 603009   1800
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, LGMD2D
» DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2, AUTOSOMAL RECESSIVE, DMDA2
» ADHALINOPATHY, PRIMARY
» MUSCULAR DYSTROPHY, DUCHENNE - LIKE MUSCULAR DYSTROPHY, TYPE 2 		608099 SGCA (SARCOGLYCAN, ALPHA, ADHALIN,
DYSTROGLYCAN 2)
 600119   600
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, LGMD2E 604286 SGCB (SARCOGLYCAN, BETA)
 600900   450

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, LGMD2F

601287

SGCD (SARCOGLYCAN DELTA)

601411

 

 550
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LGMD2G 601954 TCAP (TITIN-CAP) 604488 » See also Next Generation Sequencing Platforms 300
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, LGMD2H 254110 TRIM32 (TRIPARTITE MOTIF-CONTAINING PROTEIN 32) 602290   550
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I, LGMD2I 607155 FKRP (FUKUTIN-RELATED PROTEIN) 606596   . 500
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K, LGMD2K 609308 POMT1 (PROTEIN O-MANNOSYLTRANSFERASE 1) 607423   1100
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M, LGMD2M 611588 FKTN (FUKUTIN; FCMD) 607440   700
MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH EPIDERMOLYSIS BULLOSA SIMPLEX 226670 PLEC1 (PLECTIN 1) 601282  

2500
MUSCULAR DYSTROPHY, LIMB-GIRDLE, WITH PAGET DISEASE OF BONE   See INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA, IBMPFD      
MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT) . See OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL DOMINANT) . . .
MUSCULAR DYSTROPHY, OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE) . See OCULOPHARYNGEAL MUSCULAR DYSTROPHY (AUTOSOMAL RECESSIVE) . . .
MUSCULAR DYSTROPHY, SCLEROATONIC   See ULLRICH CONGENITAL MUSCULAR DYSTROPHY      
MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA      
MYASTHENIA, LIMB-GIRDLE, FAMILIAL
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1B		 254300 DOK7 (DOWNSTREAM OF TYROSINE KINASE 7) 610285   750
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM		 608931 CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) 100710   650
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) 100725   650
RAPSN (RAPSYN, RECEPTOR-ASSOCIATED PROTEIN OF THE SYNAPSE, 43-KD) 601562   750
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1A
» MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2		 254210 CHAT (CHOLINE ACETYLTRANSFERASE) 118490   1050
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY      
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 608930 CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) 100690   650
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) 100725   650
CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) 100720   750
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a		 601462 CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) 100690   650
CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) 100710   650
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) 100725   650
CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) 100720   750
MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d   See MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY      
MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a   See MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL      
MYELOFIBROSIS WITH MYELOID METAPLASIA, INCLUDED 254450 JAK2 (JANUS KINASE 2) 147796 Exon 12, including V617F Mutation 250
MPL  (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR) 159530 Exon 10, including W515L Mutation 250

MYOADENYLATE DEAMINASE DEFICIENCY

102770

AMPD1 (AMP DEAMINASE)

102770

Whole Gene Sequencing or 2 Mutations: Q12X, P48L

 Whole Gene: 1600
2 Mutations: 220
MYOCLONIC DYSTONIA
» MYOCLONUS-DYSTONIA SYNDROME
» MYOCLONUS, HEREDITARY ESSENTIAL
» DYSTONIA, ALCOHOL-RESPONSIVE
» DYSTONIA 11, DYT11		 159900 GCH1 (GTP CYCLOHYDROLASE 1) 600225   550
SGCE (SARCOGLYCAN, EPSILON)
 604149     495

MYOCLONIC EPILEPSY OF LAFORA
» LAFORA DISEASE
» EPILEPSY, PROGRESSIVE MYOCLONIC TYPE 2

 254780

EPM2A (LAFORIN)

 607566   750

NHLRC1 (NHL REPEAT-CONTAINING 1 GENE, EPM2B, MALIN)

 608072   500
MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED) 300432 ARX 300382 See also Mental Retardation Panel 600
MYOCLONUS--CHERRY RED SPOT SYNDROME   See NEURAMINIDASE DEFICIENCY      
MYOCLONUS-DYSTONIA SYNDROME   See MYOCLONIC DYSTONIA      
MYOCLONUS, HEREDITARY ESSENTIAL   See MYOCLONIC DYSTONIA      
MYOKYMIA   See EPISODIC ATAXIA, TYPE 1, EA1      

MYOKYMIA WITH NEONATAL EPILEPSY
» EPILEPSY, BENIGN NEONATAL, WITH MYOKYMIA
» CONVULSIONS, BENIGN FAMILIAL NEONATAL, WITH MYOKYMIA
» BFNC/MYOKYMIA SYNDROME

 606437

KCNQ2 (POTASSIUM CHANNEL, VOLTAGE-GATED, KQT-LIKE SUBFAMILY, MEMBER 2)

 602235 Whole Gene and MLPA 1500
MYOKYMIA WITH PERIODIC ATAXIA   See EPISODIC ATAXIA, TYPE 1, EA1      
MYONEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME   See MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME, MNGIE      
MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES   See BETHLEM MYOPATHY      
MYOPATHY, CATARACT, HYPOGONADISM SYNDROME   See PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 1      
MYOPATHY, CENTRONUCLEAR (AUTOSOMAL DOMINANT) 160150 DNM2 (DYNAMIN 2, DYN2) 602378   1550
MYOPATHY, CENTRONUCLEAR (AUTOSOMAL RECESSIVE)   See MYOPATHY, CENTRONUCLEAR, TYPE 2      
MYOPATHY, CENTRONUCLEAR, TYPE 2
» MYOPATHY, CENTRONUCLEAR (AUTOSOMAL RECESSIVE)
» MYOTUBULAR MYOPATHY (AUTOSOMAL RECESSIVE)
 255200 BIN1 (BRIDGING INTEGRATOR 1; AMPHIPHYSIN 2; BOX-DEPENDENT MYC-INTERACTING PROTEIN 1; AMPHIPHYSIN-LIKE, FORMERLY) 601248   1700
MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY   See MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY      
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION, CFTD 255310 ACTA1  (ACTIN) 102610   500
TPM3 (TROPOMYOSIN 3; ALPHA-TROPOMYOSIN, SLOW SKELETAL; TRK ONCOGENE) 191030   900

MYOPATHY, DISTAL 1, MPD1
» LAING DISTAL MYOPATHY
» MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT)

 160500 MYH7 (MYOSIN, HEAVY CHAIN 7, CARDIAC MUSCLE, BETA) 160760 See also MYH7, TNNT2, MYBPC3, TNNI3, TPM1, ACTC, MYL3, MYL2, LAMP2, PRKAG2, GLA, CAV3, MTTG, MTTI, MTTK, TTR, TNNC1 1900
MYOPATHY, DISTAL, EARLY-ONSET (AUTOSOMAL DOMINANT)   See MYOPATHY, DISTAL 1, MPD1      
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 606768 DYSF (DYSFERLIN) 603009   1800
MYOPATHY, DISTAL, WITH RIMMED VACUOLES . See NONAKA DISTAL