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Molecular Tests (Ordered by Disease)  

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

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

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   		 157140 Deletions
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

  
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

  
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   
3-@METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 1		 210200 MCCC1 (3-@METHYLCROTONYL-CoA CARBOXYLASE 1; MCCA) 609010 MCCC1 and MCCC2
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 2		 210210 MCCC2 (3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCB)  609014 MCCC1 and MCCC2

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

.
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  
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
AADC DEFICIENCY   See AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY    

AARSKOG SYNDROME
» FACIODIGITOGENITAL SYNDROME
FGD1
 
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  
ABETALIPOPROTEINEMIA
» ACANTHOCYTOSIS
» BASSEN-KORNZWEIG SYNDROME
» APOLIPOPROTEIN B DEFICIENCY
» MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY
» MTP DEFICIENCY
 200100 MTP 157147 . 
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  
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  
ACATALASIA   See ACATALASEMIA    
ACERULOPLASMINEMIA
» HYPOCERULOPLASMINEMIA
» CERULOPLASMIN DEFICIENCY
» HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA		 604290 CP (CERULOPLASMIN; FERROXIDASE) 117700  
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  
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  
ACHONDROGENESIS, TYPE 2
COL2A1
 
ACHONDROPLASIA
FGFR3
2 Mutations:
G380R, G375C
ACHROMATOPSIA, INCOMPLETE (X-LINKED)   See CONE-ROD DYSTROPHY, (X-LINKED) TYPE 1, CORDX1    
ACHROMATOPSIA, TYPE 3 262300 CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) 605080  
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

ACROCAPITOFEMORAL DYSPLASIA, ACFD

607778

IHH (INDIAN HEDGEHOG)

600726

.

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
» ADULT SYNDROME
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE		 101900 ATP2A2 (ATP2B, SERCA2) 108740  
ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE
GDF5 (GROWTH / DIFFERENTIATION FACTOR 5, CDMP1, LAP4)
 
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
» ST. HELENA DYSPLASIA		 602875 NPR2 (NATRIURETIC PEPTIDE RECEPTOR B/GUANYLATE CYCLASE B, ATRIAL NATRIURETIC PEPTIDE RECEPTOR, TYPE B, ANPRB) 108961  
ACROOSTEOLYSIS, NEUROGENIC   See NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE 2, HSAN2    
ACRORENOOCULAR SYNDROME   See DUANE-RADIAL RAY SYNDROME    
ACTH DEFICIENCY 201400

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

 604614  
ACTH RESISTANCE   See GLUCOCORTICOID DEFICIENCY 1    
ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ACTIN MYOPATHY
ACTA1 (ACTIN)
 
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  .
ADCA
.
 
 

ADDISON DISEASE (X-LINKED)
» ADRENAL HYPOPLASIA, CONGENITAL
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM
DAX1  (NROB1)
 
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  
ADENOMATOUS POLYPOSIS COLI
.
 
 
ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM		 103050 ADSL (ADENYLOSUCCINATE LYASE) 103050  
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
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
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   
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  
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  
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL 118485 CYP11A1 (CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1;CHOLESTEROL SIDE-CHAIN CLEAVAGE ENZYME;CYTOCHROME P450SCC 118485  
ADRENAL UNRESPONSIVENESS TO ACTH   See GLUCOCORTICOID DEFICIENCY 1    
ADRENOCORTICAL INSUFFICIENCY   NR5A1 (NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 1; STEROIDOGENIC FACTOR 1; SF1) 184757  
ADRENOLEUKODYSTROPHY, ALD 300100 ABCD1 300371  
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)
PEX2, PEX10, PEX12 and PEX26    PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3)
PEX6, PEX10, PEX12 and PEX26   Whole Gene Sequencing

PEX1 (PEROXISOME BIOGENESIS FACTOR 1)

 602136 Whole Gene Sequencing or Exons 13, 15, 18, 19
ADRENOMYELONEUROPATHY, AMN   See ADRENOLEUKODYSTROPHY, ALD    
ADULT LACTASE DEFICIENCY   See LACTOSE INTOLERANCE    
POLYCYSTIC KIDNEY DISEASE (AUTOSOMAL DOMINANT), PKD, ADPKD
» ADULT POLYCYSTIC KIDNEYS
 173900 PKD1 (POLYCYSTIN 1)
AND
PKD2 (POLYCYSTIN 2)		 601313
AND
173910 		Whole Gene Sequencing (2 Genes) or Deletion-Duplication Testing (2 Genes)
ADULT SYNDROME
.
 
 

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

601495

 IGHM (IMMUNOGLOBULIN MU) 147020   

AGAMMAGLOBULINEMIA (X-LINKED), XLA
» BRUTON AGAMMAGLOBULINEMIA
» HYPOGAMMAGLOBULINEMIA (X-LINKED)
BTK (BRUTON TYROSINE KINASE, ATK, BPK)
 
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  
AICARDI-GOUTIERES SYNDROME 2 610181 RNASEH2B (RIBONUCLEASE H2, SUBUNIT B) 610326  
AICARDI-GOUTIERES SYNDROME 3 610329 RNASEH2C (RIBONUCLEASE H2, SUBUNIT C) 610330  
AICARDI-GOUTIERES SYNDROME 4 610333 RNASEH2A (RIBONUCLEASE H2, LARGE SUBUNIT) 606034  
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)
 
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:
- OCA1
- OCA2
- OCA3
- OCA4
- OA1		 .
606933
203200
203290
606574
300500		  
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 OA1

300500 

  
ALBINISM, RUFOUS OCULOCUTANEOUS, ROCA 278400 TYRP1 (TYROSINASE-RELATED PROTEIN 1; CATALASE B) 115501  
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  
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  
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  
ALLGROVE SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
ALOPECIA UNIVERSALIS CONGENITA
» ATRICHIA, GENERALIZED		 203655 HR (HAIRLESS, MOUSE, HOMOLOG OF) 602302  
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)
ALPHA-L-FUCOSIDASE DEFICIENCY   See FUCOSIDOSIS    
ALPHA MANNOSIDOSIS 248500 MAN2B1 (MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MANB) 609458  
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  
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

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 .
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  .  
COL4A4  120131 .  
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
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 or Exons 10, 16, and part of Exon 8
ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1
APP

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

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 3, AD3

607822

PSEN1 (PRESENILIN 1, PS1)

104311

  

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 4, AD4

606889

PSEN2 (PRESENILIN 2, PS2)

600759

  
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)
  
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  
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, ALS4
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES		 602433 SETX (SENATAXIN) 608465  
AMYOTROPHIC LATERAL SCLEROSIS   SOD1,
TARDBP,
ANG,
ALS6		   Panel of 4 Genes

AMYOTROPHIC LATERAL SCLEROSIS, ALS
» LOU GEHRIG'S DISEASE

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

ANG (ANGIOGENIN, RNASE5)

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

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  
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
ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1		 224120 CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
 607465   
ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 301310

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

 300135 .
ANEMIA, SIDEROBLASTIC (X-LINKED)
» ANEMIA, HYPOCHROMIC
» HEREDITARY IRON-LOADING ANEMIA		 300751 ALAS2 (DELTA-AMINOLEVULINATE SYNTHASE 2; ALASE) 301300  
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
ANGELMAN SYNDROME, ATYPICAL 105830 CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)    

ANGIOEDEMA
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA 
C1NH (C1 ESTERASE INHIBITOR, SERPING 1)
 Whole Gene Sequencing and Deletion-Duplication Testing
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HANAC 611773 COL4A1 120130 Whole Gene or Deletion-Duplication

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

Whole Gene and Deletion Analysis (MLPA)

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE
» HAY-WELLS SYNDROME
TP73L (TUMOR PROTEIN p73-LIKE)
 Whole Gene or Deletion-Duplication
ANOPHTHALMIA, ANOP3 206900 SOX2 (SRY-BOX 2)
 184429  
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  
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
ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3		 107300 AT3 (SERPINC1)

107300

 Whole Gene Sequencing or Deletion-Duplication Testing
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
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
AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 6 611788 ACTA2 (ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA) 102620  
AO TYPE 2   See ATELOSTEOGENESIS TYPE 2    
APERT SYNDROME
» CRANIOSYNOSTOSIS, APERT SYNDROME
FGFR2
2 Mutations: S252W, P253R
APLASIA CUTIS CONGENITA WITH GASTROINTESTINAL ATRESIA   See EPIDERMOLYSIS BULLOSA WITH PYLORIC ATRESIA    
APLASTIC ANEMIA
.
TERC (TELOMERASE RNA COMPONENT)
 
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  
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  

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

107910

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

107930

  
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    
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)
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

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
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
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
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  

ARTERIAL TORTUOSITY SYNDROME, ATS

 208050 SLC2A10 (SOLUTE CARRIER FAMILY 2 - FACILITATED GLUCOSE TRANSPORTER, MEMBER 10, GLUCOSE TRANSPORTER 10, GLUT10) 606145  

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

 108120

TPM2 (TROPOMYOSIN 2, beta TROPOMYOSIN)

 190990  

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

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

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

 191043  

TNNT3 (TROPONIN T3, FAST SKELETAL)

 600692  
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  

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

 208230

WISP3 (WNT1-INDUCIBLE SIGNALING PATHWAY PROTEIN 3)

 603400  
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 .
NLGN4 (NEUROLIGIN 4) . .
NLGN3 AND NLGN4 . .
ASPHYXIATING THORACIC DYSTROPHY, TYPE 3 613091 DYNC2H1 (DYNEIN, CYTOPLASMIC 2, HEAVY CHAIN 1; DNCH2; DHC2) 603297  
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 )
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  
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   
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

.
ATAXIA-TELANGIECTASIA-LIKE DISORDER  604391 MRE11A (MEIOTIC RECOMBINATION 11, S. CEREVISIAE, HOMOLOG OF, A, MRE11) 600814  
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  
ATELOSTEOGENESIS, TYPE 2
» AO TYPE 2
» DE LA CHAPELLE DYSPLASIA
»  NEONATAL OSSEOUS DYSPLASIA 1		 256050 SLC26A2 (DTD SULFATE TRANSPORTER, DTDST) 606718  
ATELOSTEOGENESIS, TYPE 3 108721 FLNB (FILAMIN B) 663381  
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 )
ATRIAL SEPTAL DEFECT, TYPE 2 607941 GATA4 (GATA-BINDING PROTEIN 4) 600576  
ATRIAL SEPTAL DEFECT WITH ATRIOVENTRICULAR CONDUCTION DEFECTS 108900

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

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

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

 600584  
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

    

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

 		 107470  

IFNGR2 (INTERFERON, GAMMA, RECEPTOR 2)

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

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

  601859 CASP8 (CASPASE 8, FLICE, MCH5) 601763  

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

134637 Whole Gene Sequencing
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 603909 CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) 601762  
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 4, ALPS4  164790 NRAS (NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG) 164790  
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

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    
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)    
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
  

 

#-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

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

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

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

 241850

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

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

Whole Gene and Deletions-Duplications
BARAKAT SYNDROME
» HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE
» HDR SYNDROME
» NEPHROSIS, NERVE DEAFNESS, AND HYPOPARATHYROIDISM		 146255 GATA3 (GATA-BINDING PROTEIN 3) 131320  
BARDET-BIEDL SYNDROME, BBS 209900 ARL6 (ADP-RIBOSYLATION FACTOR-LIKE 6; BBS3 GENE) 608845  
BARDET-BIEDL SYNDROME TYPE 1, BBS1 209900 BBS1 209901   
BARDET-BIEDL SYNDROME TYPE 2, BBS2  209900 BBS2 606151   
BARDET-BIEDL SYNDROME TYPE 6, BBS6 209900 BBS6 (MKKS, MKS) 604896  
BARDET-BIEDL SYNDROME TYPE 10, BBS10 209900 BBS10 610148  
BARDET-BIEDL SYNDROME TYPE 12, BBS12 209900 BBS12 610683  
BARTH SYNDROME 302060 TAZ (TAFAZZIN) 300394  
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  
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 
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  
CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) 602024  
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023 Whole Gene Sequencing or Deletion-Duplication Testing 

BASAL CELL NEVUS SYNDROME
» GORLIN SYNDROME

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

BASAL GANGLIA DISEASE, ADULT-ONSET
» NEUROFERRITINOPATHY

 606159 FTL (FERRITIN LIGHT CHAIN) 134790 Whole Gene Sequencing or Iron-responsive Element
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  

BECKER MYOTONIA

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

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

 130650

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

 600856  
KCNQ1OT1 and H19 604115
and
103280  		 KCNQ1OT1 and H19 Imprinting
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  
GP1BA (GLYCOPROTEIN Ib, PLATELET, ALPHA POLYPEPTIDE, GLYCOCALICIN) 606672  
GP1BB (GLYCOPROTEIN Ib, PLATELET, BETA POLYPEPTIDE) 13872   
BEST MACULAR DYSTROPHY   See MACULAR DYSTROPHY, VITELLIFORM, VMD    

BETA HAEMOGLOBINOPATHIA
» BETA THALASSEMIA

 141900 HBB (BETA GLOBIN) 141900  
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
BFNC/MYOKYMIA SYNDROME   See MYOKYMIA WITH NEONATAL EPILEPSY    
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
BIRT-HOGG-DUBE SYNDROME, BHD
» FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS		 135150 FLCN (FOLLICULIN, FLCL)
 607273  
BLADDER CANCER, TRANSITIONAL CELL   KRAS (V-KI-RAS2 KIRSTEN RAT SARCOMA 2 VIRAL ONCOGENE HOMOLOG, KRAS2, KRAS1) 190070  
BLEPHAROFACIOSKELETAL SYNDROME   See SCHILBACH-ROTT SYNDROME    
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES 110100 FOXL2 605597 Whole Gene Sequencing and MLPA
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

BLOOM SYNDROME
» (See also Molecular Screening Tests)

 210900 RECQL3 (RECQ2) 604610 Whole Gene Sequencing or 1 Mutation: 6del / 7ins
BOOMERANG DYSPLASIA 112310 FLNB (FILAMIN B) 663381  
BORJESON-FORSSMAN-LEHMANN SYNDROME 301900 PHF6 (PHD FINGER PROTEIN 6) 300414  
BOR SYNDROME . See BRANCHIO-OTO-RENAL SYNDROME    
BORDERLINE SMEI (SMEIB)   SCN1A (SODIUM CHANNEL, NEURONAL TYPE 1, ALPHA SUBUNIT) 182389 Whole Gene and Deletions-Duplications
BO SYNDROME, TYPE 3   See BRANCHIOOTIC SYNDROME, TYPE 3    
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

.

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

112600

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

603248

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

BRACHYDACTYLY, TYPE C
» BRACHYDACTYLY, HAWS TYPE

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

BRACHYDACTYLY TYPE D, BDD

113200

HOXD 13 (HOMEOBOX D13)

142989

.

BRACHYDACTYLY TYPE E, BDE

113300

HOXD 13 (HOMEOBOX D13)

142989

.
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  
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
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  
BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1 113650 EYA1 601653 Whole Gene Sequencing or Deletion-Duplication Testing
BRANCHIO-OTO-RENAL SYNDROME, TYPE 2, BOR2

610896

SIX5

 600963  
BREAST AND OVARIAN CANCER . BRCA1 113705

Whole Gene (sequencing and MLPA)
BRCA2 600185

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

2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year
BREAST CANCER   PALB2 (PARTNER AND LOCALIZER OF BRCA2; FANCN) 610355  

BREAST CANCER, FAMILIAL

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

Whole Gene or Exons 5-8
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  
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  
BRUGADA SYNDROME 601144 SCN5A 600163 See also LONG QT SYNDROME
BRUGADA SYNDROME, TYPE 3 611875 CACNA1C (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, L TYPE, ALPHA-1C SUBUNIT; CACNL1A1; CCHL1A1; CaV1.2) 114205  
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
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  
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
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    

CAMPOMELIC DYSPLASIA
» ACAMPOMELIC CAMPOMELIC DYSPLASIA

 114290

SOX9 (SRY-BOX 9)

 608160  
CAMURATI-ENGELMANN DISEASE
» DIAPHYSEAL DYSPLASIA 1		 131300 TGFB1 (TGFB, TRANSFORMING GROWTH FACTOR, BETA-1)
190180 Whole Gene or Exon 24
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)
CANAVAN-VAN BOGAERT-BERTRAND DISEASE   See CANAVAN DISEASE    
CANCER (SOMATIC MUTATIOS) .

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 Whole Gene or Deletion-Duplication
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  
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  

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

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

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

 176872   

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

 601263   
CARDIOMEGALIA GLYCOGENICA DIFFUSA   See GLYCOGEN STORAGE DISEASE, TYPE 2    
CARDIOMYOPATHY, DILATED   CTF1 (CARDIOTROPHIN 1) 600435  
CARDIOMYOPATHY, DILATED, TYPE 1AA 612158 ACTN2 (ACTININ, ALPHA-2) 102573  
CARDIOMYOPATHY, DILATED, TYPE 1C
» CARDIOMYOPATHY, DILATED, WITH LEFT VENTRICULAR NONCOMPACTION		 601493 LDB3 (LIM DOMAIN-BINDING 3, ZASP, CYPHER) 605906  
CARDIOMYOPATHY, DILATED, 1G, CMD1G 604145 TTN (TITIN, CONNECTIN ) 188840 Exons 312-313
CARDIOMYOPATHY, DILATED, TYPE 1M 607482 CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) 600824  
CARDIOMYOPATHY, DILATED, TYPE 1N 607487 TCAP (TITIN-CAP) 604488 » See also Next Generation Sequencing Platforms
CARDIOMYOPATHY, DILATED, TYPE 1O 608569 ABCC9 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; SULFONYLUREA RECEPTOR 2; SUR2) 601439  
CARDIOMYOPATHY, DILATED, TYPE 1P 609909 PLN (PHOSPHOLAMBAN) 172405  
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
CARDIOMYOPATHY, DILATED, TYPE 1W 611407 VCL (VINCULIN, METAVINCULIN) 193065  
CARDIOMYOPATHY, DILATED, TYPE 1X 611615 FKTN (FUKUTIN; FCMD) 607440  
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
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
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 612124 CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) 600824  
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  
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
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  
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  .
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  .

CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY

 255120

CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1)

 600528  .
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 .
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 .
CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL		 608836 CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2) 600650 .
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  
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  
CATALASE DEFICIENCY   See ACATALASEMIA    
CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY . PAX6 (PAIRED BOX GENE 6) 607108

Whole Gene and Deletion Analysis (MLPA)
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    
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  
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
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
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
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  
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  
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  
CEREBRAL CHOLESTERINOSIS   See CEREBROTENDINOUS XANTHOMATOSIS, CTX    

CEREBRAL GIGANTISM
» SOTOS SYNDROME

 117550 NSD1 606681 At least 20mg DNA is needed 
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  
CEROID LIPOFUSCINOSIS, CLN

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

    

CEROID LIPOFUCSINOSIS, CLN1
» SANTAVUORI DISEASE

 256730 PPT1 (PALMITOYL-PROTEIN THIOESTERASE) 600722  

CEROID LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE

 204500 CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1) 204500

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

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

 204200 CLN3 607042

Whole Gene and Common 1kb Deletion

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

256731

 CLN5 608102  

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

601780

CLN6

606725

  
CEROID LIPOFUCSINOSIS, CLN8
» CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
» NORTHERN EPILEPSY
» EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION		 610003 CLN8 607837  
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  
CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS 118300 PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene or
Duplication
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 1D, CMT1D 607678 EGR2 (EARLY GROWTH RESPONSE 2) 129010  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A, CMT2A 118210 KIF1B (KINESIN FAMILY MEMBER 1B)
 605995   
MFN2 (MITOFUSIN 2) 608507  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B, CMT2B 600882 RAB7 (RAS-ASSOCIATED PROTEIN RAB7)
 602298   
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1, CMT2B1 605588 LMNA (LAMIN A/C) 150330  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D, CMT2D 601472 GARS (GLYCYL T RNA SYNTHETASE) 600287  
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E, CMT2E 607684 NEFL (NEUROFILAMENT PROTEIN, LIGHT POLYPEPTIDE) 162280 .  

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

 607677 MPZ  (MYELIN PROTEN ZERO, P0) 159440 .

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

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

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

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

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

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

 601596

SH3TC2 (SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT DOMAIN 2)

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

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  

PRX (PERIAXIN)

605725

  
MPZ (MYELIN PROTEN ZERO, P0) 159440  
PMP22 (PERIPHERAL MYELIN PROTEIN) 601097 Whole Gene

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

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

608340

 GDAP1 (GANGLIOSIDE-INDUCED DIFFERENTIATION-ASSOCIATED PROTEIN 1) 606598  
CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL DOMINANT) 606482 DNM2 (DYNAMIN 2, DYN2) 602378  
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  
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
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  
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  
CHARGE SYNDROME 214800

CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7)

608892  
CHERRY RED SPOT--MYOCLONUS SYNDROME   See NEURAMINIDASE DEFICIENCY    

CHERUBISM

118400

SH3BP2

602104

Exon 9
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  
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  

ATP8B1 (FIC1)

602397

.
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  

ATP8B1 (FIC1)

602397

.
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

  
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

  

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

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

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

Whole Gene and Deletions-Duplications

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   
CITRULLINURIA   See CITRULLINEMIA, CLASSIC    
CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY		 215700 ASS (ARGININOSUCCINATE SYNTHETASE) 603470  
CITRULLINEMIA, TYPE 1   See CITRULLINEMIA, CLASSIC    
CITRULLINEMIA, TYPE 2, ADULT-ONSET 603471 SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) 603859  
CITRULLINEMIA, TYPE 2, NEONATAL-ONSET
» CHOLESTASIS, NEONATAL INTRAHEPATIC, CAUSED BY CITRIN DEFICIENCY

605814

 SLC25A13 (SOLUTE CARRIER FAMILY 25, MEMBER 13; CITRIN) 603859  
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

CLEIDOCRANIAL DYSPLASIA, CCD 

119600

RUNX2 (CBFA 1)

600211

.

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

129500 GJB6 (CONNEXIN 30, CX30) 604418 Whole Gene
COAGULATION FACTOR 11 DEFICIENCY   See PTA DEFICIENCY    
COATS DISEASE 300216 NDP (NORRIN)  310600  Whole Gene Sequencing or Deletion-Duplication Testing
COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A		 216400 ERCC8 (EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; CSA) 609412  
COCKAYNE SYNDROME, TYPE 2
» COCKAYNE SYNDROME, TYPE B		 133540 ERCC6(EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; CSB)
 133540  
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  
PDSS1 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 1) 607429  
PDSS2 (PRENYL DIPHOSPHATE SYNTHASE, SUBUNIT 2) 610564  
COFFIN-LOWRY SYNDROME, CLS 303600 RPS6KA3 (RSK2) 300075  
COHEN SYNDROME, COH1 216550 COH1 607817  Whole Gene or Exon 23, including the “Finnish mutation” (c.3348-3349delCT)

COLD URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME

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

COLLODION FETUS
» LAMELLAR ICHTHYOSIS

 242300 TGM1 (TRANSGLUTAMINASE) 190195  
COLON, ADENOMATOUS POLYPOSIS . See POLYPOSIS COLI, ADENOMATOUS    
COLORECTAL ADENOMATOUS POLYPOSIS (AUTOSOMAL RECESSIVE) 608456

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

604933  Whole Gene

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

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

3 Genes (Whole Gene and MLPA)

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

 114400 MLH1