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.

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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    
17q21.31 MICRODELETION SYNDROME . 

MAPT (MICROTUBULE-ASSOCIATED PROTEIN TAU)

   		 157140 Deletions

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    
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-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-@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  
3-@METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY
» METHYLCROTONYLGLYCINURIA TYPE 2		 210210 MCCC2 (3-@METHYLCROTONYL-CoA CARBOXYLASE 2; MCCB)  609014  

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

250950

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

600529

.
3-ALPHA-METHYLGLUTACONYL-CoA HYDRATASE DEFICIENCY   See 3-ALPHA-METHYLGLUTACONICACIDURIA, TYPE 1    
  

 

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A

Disease
Disease OMIM
Gene
Gene OMIM
Comment

AARSKOG SYNDROME
» FACIODIGITOGENITAL SYNDROME

FGD1
 
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    
ACAMPOMELIC CAMPOMELIC DYSPLASIA . See CAMPOMELIC DYSPLASIA    
ACANTHOCYTOSIS
.
 SLC4A1 (BAND 3 OF RED CELL MEMBRANE, ERYTHROID PROTEIN BAND 3, ANION EXCHANGE PROTEIN 1) 109270  
See ABETALIPOPROTEINEMIA    
ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY		 115500 CAT (CATALASE) 115500  
ACATALASIA   See ACATALASEMIA    

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    
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  Deletions

ACROCAPITOFEMORAL DYSPLASIA, ACFD

607778

IHH (INDIAN HEDGEHOG)

600726

.

ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME
» ADULT SYNDROME

P63 (TP63)
 Exons 5-8, 13 and 14
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  
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, 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    
ADENOCARCINOMA OF LUNG, SOMATIC   BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757  
ADENOMATOUS POLYPOSIS COLI
.
 
 
ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM		103050ADSL (ADENYLOSUCCINATE LYASE)103050 Preferentially on skin fibroblast culture for mutation analysis in proband, eventually blood in PAX RNA tubes
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 MLPA or 6 most common mutations: Pro30Leu, A/C 655->G, Ile172Asn, Val281Leu, Gln318X, Trp356Arg
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY
» ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES
» MALE PSEUDOHERMAPHRODITISM DUE TO MULTIPLE MICROSOMAL MIXED FUNCTION OXIDASE DEFICIENCY		 201750 POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015  
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO DEFECTS IN SEVERAL STEROID-BIOSYNTHETIC ENZYMES   See ADRENAL HYPERPLASIA, CONGENITAL, DUE TO APPARENT COMBINED P450C17 AND P450C21 DEFICIENCY    
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 UNRESPONSIVENESS TO ACTH   See GLUCOCORTICOID DEFICIENCY 1    
ADRENOLEUKODYSTROPHY, ALD300100 ABCD1 300371  
ADRENOLEUKODYSTROPHY, AUTOSOMAL NEONATAL FORM, NALD 202370 PEX2, PEX10, PEX12 and PEX26    PEX2 (Exon 4), PEX10 (Exons 4 and 5), PEX12 (Exons 2 and 3) and PEX26 (Exons 2 and 3)

PEX1 (PEROXISOME BIOGENESIS FACTOR 1)

 602136 Exons 13 and 15
ADRENOMYELONEUROPATHY, AMN See ADRENOLEUKODYSTROPHY, ALD  
ADULT LACTASE DEFICIENCY   See LACTOSE INTOLERANCE    
ADULT POLYCYSTIC KIDNEYS, PKD, ADPKD
» POTTER TYPE 3 POLYCYSTIC KIDNEY DISEASE
 173900 PKD1 (POLYCYSTIN 1)
AND
PKD2 (POLYCYSTIN 2)		 601313
AND
173910 		2 Genes
ADULT SYNDROME
.
 
 

AFIBRINOGENEMIA
» DYSFIBRINOGENEMIA

FGA (FIBRINOGEN ALPHA)
 
FGB (FIBRINOGEN BETA)
 
FGG (FIBRINOGEN GAMMA)
 
All 3 Genes: FGA, FGB and FGG
    
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)
 

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 RECESSIVE) . See OSTEOPETROSIS (AUTOSOMAL RECESSIVE) .  

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

  300500 OA1

300500 

  
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  
ALLGROVE SYNDROME   See ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, AAA    
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 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 .  
ALPORT SYNDROME WITH LEUKOCYTE INCLUSIONS AND MACROTHROMBOCYTOPENIA   See FECHTNER SYNDROME    
ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA   See EPSTEIN SYNDROME    
ALSTROM SYNDROME, ALMS 203800 ALMS1 606844  Exons 10, 16, and part of Exon 8
ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1
APP
Whole Gene 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    
AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, CAMT
MPL (MYELOPROLIFERATIVE LEUKEMIA VIRUS ONCOGENE, TPOR)
 
AMYLO-1,6-GLUCOSIDASE DEFICIENCY   See GLYCOGEN STORAGE DISEASE, TYPE 3    

AMYLOID POLYNEUROPATHY
» AMYLOIDOSIS 1

TTR  (TRANSTHYRETIN)
Exons 2-4
AMYLOIDOSIS 1
.
 
 
AMYLOIDOSIS, CEREBRAL AMYLOID ANGIOPATHY .. See CEREBRAL AMYLOID ANGIOPATHY    
AMYLOIDOSIS, CEREBROARTERIAL
.
 
 
AMYLOIDOSIS, FAMILIAL VISCERAL
» AMYLOIDOSIS 8
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL		 105200 FGA  (FIBRINOGEN ALPHA) 134820  
AMYLOIDOSIS, FAMILIAL RENAL   See AMYLOIDOSIS, FAMILIAL VISCERAL    
AMYLOIDOSIS 8   See AMYLOIDOSIS, FAMILIAL VISCERAL    
AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, ALS4
» NEURONOPATHY, DISTAL HEREDITARY MOTOR, WITH PYRAMIDAL FEATURES		 602433 SETX (SENATAXIN) 608465  

AMYOTROPHIC LATERAL SCLEROSIS, ALS
» LOU GEHRIG'S DISEASE

SOD1
 
AMYOTROPHIC LATERAL SCLEROSIS, FAMILIAL, FALS, ALS1 105400

ANG (ANGIOGENIN, RNASE5)

 105850  

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)
.
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 .
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)
 

ANHIDROTIC ECTODERMAL DYSPLASIA 3, ED3
» HYPOHIDROTIC ECTODERMAL DYSPLASIA (AUTOSOMAL DOMINANT), EDA3
» ECTODERMAL DYSPLASIA, ANHIDROTIC ECTODERMAL DYSPLASIA 3

EDAR (ECTODYSPLASIN 1)
 
ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, SILVERMAN-HANDMAKER TYPE   See DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE    
ANIRIDIA, TYPE 2, AN2
PAX6 (PAIRED BOX GENE 6)
Whole Gene or Deletion Analysis (MLPA)

ANKYLOBLEPHARON-ECTODERMAL DEFECTS WITH CLEFT LIP AND PALATE
» HAY-WELLS SYNDROME

P63 (TP63)
 Exons 5-8, 13 and 14
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

  
ANTITRYPSINE DEFICIENCY, AAT
PI (ANTITRYPSINE, PROTEASE INHIBITOR)
Alleles M, S and Z
ANTLEY-BIXLER SYNDROME
» TRAPEZOIDOCEPHALY-SYNOSTOSIS SYNDROME
» MULTISYNOSTOTIC OSTEODYSGENESIS WITH LONG BONE FRACTURES
» OSTEODYSGENESIS, MULTISYNOSTOTIC, WITH FRACTURES		 207410 POR (CYTOCHROME P450 OXIDOREDUCTASE) 124015  
ANTOPOL DISEASE   See GLYCOGEN STORAGE DISEASE, TYPE 2B    
ANUS, IMPERFORATE, WITH HAND, FOOT, AND EAR ANOMALIES   See