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Molecular Tests (Ordered by Gene)  

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-R-S-T-U-V-W-X-Y-Z

A

Gene
Gene
OMIM
Disease
Disease OMIM
Comment

AAAS (ALADIN, ADRACALIN)

 605378

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

  
ABCA3 (ATP-BINDING CASSETTE, SUBFAMILY A, MEMBER 3; ATP-BINDING CASSETTE TRANSPORTER 3) 601615 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, TYPE 3
» PULMONARY ALVEOLAR PROTEINOSIS DUE TO ABCA3 DEFICIENCY
» INTERSTITIAL LUNG DISEASE DUE TO ABCA3 DEFICIENCY		 610921  

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

607800

ICHTHYOSIS, LAMELLAR, 2, LI2
» LAMELLAR ICHTHYOSIS, TYPE 2
» ICHTHYOSIS CONGENITA 2B

 601277 5 Exons: 28-32

ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE
» HARLEQUIN ICHTHYOSIS

 242500 Whole Gene
ABCB4 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 4; MULTIDRUG RESISTANCE 3; MDR3; P-GLYCOPROTEIN 3; PGY3)

171060

 CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, PFIC3
» MDR3 DEFICIENCY
» CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, WITH ELEVATED SERUM GAMMA-GLUTAMYLTRANSFERASE		 602347  

ABCC8 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 8, SUR1)

600509 

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  
DIABETES MELLITUS, PERMANENT NEONATAL 606176  
ABCC9 (ATP-BINDING CASSETTE, SUBFAMILY C, MEMBER 9; SULFONYLUREA RECEPTOR 2; SUR2) 601439 CARDIOMYOPATHY, DILATED, TYPE 1O 608569  

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

 300135 ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA 301310 .
ABCB11 (ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 11) 603201 CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME		 243300  
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE		 211600  
ABCC6 (MULTIDRUG RESISTANCE-ASSOCIATED PROTEIN 6, MRP6) 603234 PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL RECESSIVE), PXE
» GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL RECESSIVE)
 264800 Whole Gene or R1141X representing 30% of mutations or Deletion Exons 23 -29 representing 10% of mutations
PSEUDOXANTHOMA ELASTICUM (AUTOSOMAL DOMINANT), PXE
» GRONBLAD - STRANDBERG SYNDROME (AUTOSOMAL DOMINANT)
 177850 Whole Gene or R1141X representing 30% of mutations or Deletion Exons 23 -29 representing 10% of mutations
ABCD1 300371 ADRENOLEUKODYSTROPHY, ALD
» ADRENOMYELONEUROPATHY, AMN
 300100  
ABCR (ABCA4)   STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1		 248200  

ACAD8 (ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 8)

604773

ISOBUTYRYL GLYCINURIA
» ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
» ACAD8 DEFICIENCY

604773

.

ACADM

607008

MEDIUM CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY, MCAD

201450

Whole Gene or 1 Mutation: K329E
ACADS (ACYL-CoA DEHYDROGENASE, SHORT-CHAIN) 606885 SCAD DEFICIENCY
» SHORT-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY		 201470  

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

600301

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

600301

.

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

609575  ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY 201475 .
ACAT1 (ACETYL-CoA ACETYLTRANSFERASE 1; ACETOACETYL-CoA THIOLASE, MITOCHONDRIAL) 607809 ALPHA-METHYLACETOACETIC ACIDURIA
» BETA-KETOTHIOLASE DEFICIENCY
» MITOCHONDRIAL ACETOACETYL-CoA THIOLASE DEFICIENCY
» 2-@METHYL-3-HYDROXYBUTYRIC ACIDEMIA		 254210  
ACE (ANGIOTENSIN I-CONVERTING ENZYME;DIPEPTIDYL CARBOXYPEPTIDASE 1, KININASE 2) 106180 RENAL TUBULAR DYSGENESIS
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA		 267430  

ACTA1  (ACTIN)

102610

ACTIN MYOPATHY 

102610

.

NEMALINE MYOPATHY (AUTOSOMAL DOMINANT), NEM1

161800

.

NEMALINE MYOPATHY (AUTOSOMAL RECESSIVE), NEM2

256030

.
MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION 255310  
ACTA2 (ACTIN, ALPHA-2, SMOOTH MUSCLE, AORTA) 102620 AORTIC ANEURYSM, FAMILIAL THORACIC, TYPE 6 611788  

ACTC1 (ACTIN, ALPHA, CARDIAC MUSCLE, SMOOTH MUSCLE ACTIN)

 		 102540 DILATED CARDIOMYOPATHY   See also ACTC1, MYL2 and MYL3

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

 192600  See also ACTC1, MYL2 and MYL3

ACTC1
MYL2
MYL3

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

   19 Exons
ACTN2 (ACTININ, ALPHA-2) 102573 CARDIOMYOPATHY, DILATED, TYPE 1AA 612158  
ACTN4 (ACTININ, ALPHA-4) 604638 FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 1 603278  
ACVR1 (ACTIVIN A RECEPTOR, TYPE 1; ACTIVIN RECEPTOR-LIKE KINASE 2; ALK2) 102576 FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FOP 135100 c.617G>A (Arg206His)

ADA (ADENOSINE DEAMINASE, ADENOSINE AMINOHYDROLASE)

 608958

SEVERE COMBINED IMMUNODEFICIENCY, (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY, SCID

 102700  
ADAMTS10 (A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10) 608990 WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE)
» SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
» MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL		 277600  
ADAMTS13 (VON WILLEBRAND FACTOR-CLEAVING PROTEASE)
 604134 THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL, TTP
» SCHULMAN-UPSHAW SYNDROME
 274150 . 
HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1
 235400 . 
ADAMTS18 (A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10) 607929 WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE)
» SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
» MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL		 277600  
ADSL (ADENYLOSUCCINATE LYASE)
 103050 ADENYLOSUCCINASE DEFICIENCY
» SUCCINYLPURINEMIC AUTISM
 103050  
AGL (AMYLO-1,6-GLUCOSIDASE, 4-ALPHA-GLUCANOTRANSFER, GLYCOGEN DEBRANCHER ENZYME) 610860 GLYCOGEN STORAGE DISEASE, TYPE 3
» GSD TYPE 3
» FORBES DISEASE
» CORI DISEASE
» AMYLO-1,6-GLUCOSIDASE DEFICIENCY
» GLYCOGEN DEBRANCHER DEFICIENCY		 232400  
AGPAT2 (1-@ACYLGLYCEROL-3-PHOSPHATE O-ACYLTRANSFERASE 2) 603100 LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1
» BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY, TYPE 1
» BRUNZELL SYNDROME, AGPAT2-RELATED		 608594  
AGT (ANGIOTENSINOGEN, SERPINA8, ANGIOTENSIN) 106150 RENAL TUBULAR DYSGENESIS
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA		 267430  
AGTR1 (ANGIOTENSIN RECEPTOR 1) 106165 RENAL TUBULAR DYSGENESIS
» RENAL TUBULAR DYSGENESIS WITH CHOANAL ATRESIA AND ATHELIA		 267430  

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

 604285

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

 259900 Whole Gene or 3 Exons: 1, 4 and 7 (Including 33-34insC, 508A, 731C Mutations)
AHI1 (ABELSON HELPER INTEGRATION SITE 1, JOUBERIN)
 608894  JOUBERT SYNDROME, TYPE 3 608629  

AICDA (ACTIVATION-INDUCED CYTIDINE DEAMINASE, AID)

 605257

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

 605258  
AICDA, CD40, CD40LG, UNG IMMUNODEFICIENCY WITH HYPER-IgM
» HYPER-IgM SYNDROME		 .  

AIRE (AUTOIMMUNE REGULATOR)

 607358

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

Whole Gene

ALBINISM PANEL:
- OCA1
- OCA2
- OCA3
- OCA4
- OA1
606933
203200
203290
606574
300500		 ALBINISM    

ALDH3A2 (FALDH, ALDH10)

609523

SJOGREN-LARSSON SYNDROME 
» FATTY ALDEHYDE DEHYDROGENASE DEFICIENCY 

270200

.
ALDH7A1 (ALDEHYDE DEHYDROGENASE 7 FAMILY, MEMBER A1; ANTIQUITIN; ALPHA AMINO-ADIPIC SEMIALDEHYDE DEHYDROGENASE) 107323 EPILEPSY, PYRIDOXINE-DEPENDENT, EPD
» AASA DEHYDROGENASE DEFICIENCY		 266100  
ALDOB (ALDOLASE B) 229600 FRUCTOSE INTOLERANCE
» FRUCTOSEMIA
» FRUCTOSE-1-PHOSPHATE
» ALDOLASE B DEFICIENCY		 229600 Whole Gene or 3 Common Mutations: A149P, A174D, N334K
ALK1 (ACTIVIN A RECEPTOR, TYPE II-LIKE 1, ACVRL1) 601284 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 2
» OSLER-RENDU-WEBER DISEASE, TYPE 2
» ORW DISEASE, TYPE 2 		600376 Whole Gene Sequencing
ALMS1 606844  ALSTROM SYNDROME, ALMS 203800 Whole Gene or Exons 10, 16, and part of Exon 8

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

 603741 ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100  

ALOXE3 (ARACHIDONATE LIPOXYGENASE 3,  LIPOXYGENASE TYPE 3)

 607206 ICHTHYOSIFORM ERYTHRODERMA, NONBULLOUS CONGENITAL 242100  

ALX4 (ARISTALESS-LIKE 4, MOUSE, HOMOLOG OF)

 605420

PARIETAL FORAMINA, TYPE 2
» FORAMINA PARIETALIA PERMAGNA
» CATLIN MARKS

 609597  

AMPD1  (AMP DEAMINASE)

102770

MYOADENYLATE DEAMINASE DEFICIENCY 

102770

2 Mutations: Q12X, P48L
AMT (AMINOMETHYLTRANSFERASE, GLYCINE CLEAVAGE SYSTEM T PROTEIN) 238310

NONKETOTIC HYPERGLYCINEMIA
» GLYCINE ENCEPHALOPATHY

 605899  

ANG (ANGIOGENIN, RNASE5)

 105850 AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 105400  

ANGELMAN

.

See UBE3A 

.

.

ANTITRYPSINE

.

See PI 

.

.

APC

175100

POLYPOSIS COLI, ADENOMATOUS 
» FAMILIAL ADENOMATOUS POLYPOSIS, FAP
» ATTENUATED POLYPOSIS COLI 

175100

Whole Gene or MLPA for Deletions-Duplications

APOA1 (APOLIPOPROTEIN A-1)

107680

HYPO-ALPHALIPOPROTEINEMIA 

604091

L178P Mutation
APOB (APOLIPOPROTEIN B, APOB100,
APOB48) 

107730

 

HYPERCHOLESTEROLEMIA (AUTOSOMAL DOMINANT), TYPE B
» APOLIPOPROTEIN B-100, FAMILIAL LIGAND - DEFECTIVE

144010

 2 Mutations: R3500Q  and R3531C

HYPERCHOLESTEROLEMIA

143890

3 mutations: R3500Q, R3500W, H3543Y
HYPOBETALIPOPROTEINEMIA, FAMILIAL
» ABETALIPOPROTEINEMIA, NORMOTRIGLYCERIDEMIC, STEINBERG TYPE
» FAMILIAL HYPOBETALIPOPROTEINEMIA
» ACANTHOCYTOSIS WITH HYPOBETALIPOPROTEINEMIA		 107730 Whole Gene

APOC2 (APOLIPOPROTEIN C2)

207750

HYPERCHYLOMICRONEMIA

207750

.
APOE (APOLIPOPROTEIN E)
 107741 DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E
» APOLIPOPROTEIN E DEFICIENCY
» HYPERLIPOPROTEINEMIA, TYPE 3
» FAMILIAL HYPERBETA- AND PREBETALIPOPROTEINEMIA
» FAMILIAL HYPERCHOLESTEROLEMIA WITH HYPERLIPEMIA		 107741 .

APP

104760

ALZHEIMER DEMENTIA, EARLY-ONSET, TYPE 1, AD1

104300

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

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

105150

Whole Gene, Deletion-Duplication or Exons 16 and 17 harbouring the majority of mutations
APRT (ADENINE PHOSPHORIBOSYLTRANSFERASE) 102600 APRT DEFICIENCY 102600  
APTX (APRATAXIN)
 606350  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  
AQP2 (AQUAPORIN 2)
 		 107777 DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL RECESSIVE) 222000 . 
DIABETES INSIPIDUS, NEPHROGENIC (AUTOSOMAL DOMINANT) 125800 . 

AR (ANDROGEN RECEPTOR)

313700

ANDROGEN INSENSITIVITY SYNDROME, AIS

300068

Whole Gene

REIFENSTEIN SYNDROME 

312300

Whole Gene

HYPOSPADIAS (X-LINKED) 

.

Whole Gene

KENNEDY DISEASE 
» SPINAL AND BULBAR MUSCULAR ATROPHY, SBMA

313200

Repeat
ARH 605747 HYPERCHOLESTEROLEMIA (AUTOSOMAL RECESSIVE), ARH 603813 . 

ARIX (ARISTALESS HOMEOBOX, DROSOPHILA, HOMOLOG , PHOX2A)

602753

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

602078

.
ARL13B (ADP-RIBOSYLATION FACTOR-LIKE 13B, ARL2-LIKE PROTEIN 1) 608922 JOUBERT SYNDROME, TYPE 8 612291  
ARSA (ARYLSULFATASE A,  CEREBROSIDE-SULFATASE)  607574 

METACHROMATIC LEUKODYSTROPHY
» SULFATIDE LIPIDOSIS
» ARYLSULFATASE A DEFICIENCY

 250100 Whole Gene or Deletion-Duplication
PSEUDOARYLSULFATASE A DEFICIENCY 250100 Whole Gene or Deletion-Duplication
ARSB (ARYLSULFATASE B, N-ACETYLGALACTOSAMINE-4-SULFATASE) 253200 MUCOPOLYSACCHARIDOSIS TYPE 6, MPS6
» MAROTEAUX-LAMY SYNDROME
» ARYLSULFATASE B DEFICIENCY
» N-ACETYLGALACTOSAMINE-4-SULFATASE DEFICIENCY
 253200 . 
ARSE (ARYLSULFATASE E) 300180 CHONDRODYSPLASIA PUNCTATA (X-LINKED RECESSIVE)
» CHONDRODYSPLASIA PUNCTATA, BRACHYTELEPHALANGIC		 302950  

ARX

300382

INFANTILE SPASMS (X-LINKED), ISS X 
» WEST SYNDROME 
» EPILEPSY, INFANTILE SPASMS (X-LINKED)

308350

See also Mental Retardation Panel

PARTINGTON SYNDROME, MRXS1
» MENTAL RETARDATION, PARTINGTON SYNDROME, MRXS1

309510

LISSENCEPHALY WITH AMBIGUOUS GENITALIA (X-LINKED) 

300215
MYOCLONIC EPILEPSY WITH MENTAL RETARDATION AND SPASTICITY (X-LINKED) 300432
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE54, MRX54 300412
ASL (ARGININOSUCCINATE LYASE, ARGININOSUCCINASE) 608310 ARGININOSUCCINIC ACIDURIA
» ARGININOSUCCINASE DEFICIENCY
» ARGININOSUCCINATE LYASE DEFICIENCY
» ASL DEFICIENCY		 207900  
ASPA (ASPARTOACYLASE) 608034 CANAVAN DISEASE
» CANAVAN-VAN BOGAERT-BERTRAND DISEASE
» ASPARTOACYLASE DEFICIENCY
» SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM		 271900 Whole Gene and Deletions-Duplications
» (See also Molecular Screening Tests)
ASS (ARGININOSUCCINATE SYNTHETASE) 603470 CITRULLINEMIA, CLASSIC
» CITRULLINEMIA, TYPE 1
» CITRULLINURIA
» ARGININOSUCCINATE SYNTHETASE DEFICIENCY		 215700  
AT3 (SERPINC1)

107300

 ANTITHROMBIN 3 DEFICIENCY
» THROMBOPHILIA, HEREDITARY, DUE TO DEFICIENCY OF AT3		 107300 . 

ATM

607585

ATAXIA-TELANGIECTASIA, AT
» LOUIS-BAR SYNDROME

208900

.
ATP1A2 182340 FAMILIAL PARAPLEGIC MIGRAINE TYPE 2 602481 Whole Gene or 2 Mutations: L764P and W887R
ATP2A2 (ATP2B, SERCA2) 108740 DARIER-WHITE DISEASE
» KERATOSIS FOLLICULARIS
» DARIER DISEASE
 124200  
ACROKERATOSIS VERRUCIFORMIS
» HOPF DISEASE
 101900  
ATP2C1 604384 HAILEY-HAILEY DISEASE
» PEMPHIGUS, BENIGN FAMILIAL
 169600  
ATP6V1B1 (ATP6B1
VACUOLAR PROTON PUMP, SUBUNIT 3, VPP3)
 192132 RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS 267300 . 

ATP7A

300011

MENKES DISEASE 
» KINKY HAIR DISEASE 

309400

Whole Gene or Deletion-Duplication

NEONATAL CUTIS LAXA 
» OCCIPITAL HORN SYNDROME 

304150

Whole Gene or Deletion-Duplication
ATP7B 606882 WILSON DISEASE
» HEPATOLENTICULAR DEGENERATION		 277900 Whole Gene

ATP8B1 (FIC1)

 

602397

 

CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BRIC
» SUMMERSKILL SYNDROME

243300

.

 
CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, PFIC1
» BYLER DISEASE
 211600  
ATP6V0A4 (ATP6N2 VACUOLAR PROTEIN PUMP, SUBUNIT 2, VPP
 605239 RENAL TUBULAR ACIDOSIS, DISTAL (AUTOSOMAL RECESSIVE)
» RENAL TUBULAR ACIDOSIS (AUTOSOMAL RECESSIVE) WITH PRESERVED HEARING
» RENAL TUBULAR ACIDOSIS, DISTAL, (AUTOSOMAL RECESSIVE) WITH LATE-ONSET SENSORINEURAL HEARING LOSS		 602722 . 

ATROPHIN1

.

See DRPLA 

.

.
ATRX (XNP)
 300032 ALPHA-THALASSEMIA / MENTAL RETARDATION SYNDROME, ATRX (X-LINKED)
» ATR-X SYNDROME
» XLMR-HYPOTONIC FACE SYNDROME
» MENTAL RETARDATION, XLMR-HYPOTONIC FACE SYNDROME
 301040 Blood in RNA PAX tubes
JUBERG-MARSIDI SYNDROME
» MENTAL RETARDATION, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM (X-LINKED)		 309590 Blood in RNA PAX tubes
SMITH-FINEMAN-MYERS MENTAL RETARDATION SYNDROME
» MENTAL RETARDATION, SMITH-FINEMAN-MYERS SYNDROME 		309580 Blood in RNA PAX tubes

ATXN1  (ATAXIN 1)

601556

SPINOCEREBELLAR ATAXIA 1, SCA1

164400

See SCA1, SCA2, SCA3, SCA6

ATXN2  (ATAXIN 2)

601517

SPINOCEREBELLAR ATAXIA 2, SCA2

183090

See SCA1, SCA2, SCA3, SCA6

ATXN3 (ATAXIN 3)

607047

SPINOCEREBELLAR ATAXIA 3, SCA3
» MACHADO-JOSEPH DISEASE 

109150

See SCA1, SCA2, SCA3, SCA6

ATXN8OS (ATAXIN 8 OPPOSITE STRAND, SCA8)

 603680  SPINOCEREBELLAR ATAXIA 8, SCA8 608768 Repeat

ATXN10 (ATAXIN 10)

 603516  SPINOCEREBELLAR ATAXIA 10, SCA10 603516 Repeat

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

600529

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

250950

.
AVP (ARGININE VASOPRESSIN, VASOPRESSIN-NEUROPHYSIN 2, ANTIDIURETIC HORMONE, ADH) 192340 DIABETES INSIPIDUS, NEUROHYPOPHYSEAL
» DIABETES INSIPIDUS, PRIMARY CENTRAL		 125700  
AVPR2 (VASOPRESSIN RECEPTOR 2, ANTIDIURETIC HORMONE RECEPTOR)
 304800 DIABETES INSIPIDUS, NEPHROGENIC (X-LINKED) 304800 . 
AXIN2 (AXIS INHIBITOR 2, CONDUCTIN) 604433 OLIGODONTIA-COLORECTAL CANCER SYNDROME
» TOOTH AGENESIS-COLORECTAL CANCER SYNDROME		 608615  
COLORECTAL CANCER, SOMATIC 114500  

AZFa, AZFb and AZFc (including DAZ)

415000

AZOSPERMIA-OLIGOSPERMIA 
» SERTOLI-CELL-ONLY SYNDROME 
» MALE INFERTILITY 

415000

Deletions
 

 

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

B

Gene

Gene
OMIM

 Disease Disease OMIM Comment
B3GALTL (UDP-GAL:BETA-GlcNAc BETA-1,3-GALACTOSYLTRANSFERASE-LIKE, BETA-1,3-GLUCOSYLTRANSFERASE) 610308 PETERS-PLUS SYNDROME
» KRAUSE-KIVLIN SYNDROME
» PETERS ANOMALY WITH SHORT-LIMB DWARFISM		 261540  
BBS1 209901  BARDET-BIEDL SYNDROME TYPE 1, BBS1 209900  
BBS2 606151  BARDET-BIEDL SYNDROME TYPE 2, BBS2  209900  
BBS6 (MKKS, MKS) 604896 BARDET-BIEDL SYNDROME TYPE 6, BBS6 209900  
MCKUSICK-KAUFMAN SYNDROME
» HYDROMETROCOLPOS SYNDROME
» HYDROMETROCOLPOS, POSTAXIAL POLYDACTYLY, AND CONGENITAL HEART MALFORMATION		 236700  
BBS10 610148 BARDET-BIEDL SYNDROME TYPE 10, BBS10 209900  
BBS12 610683 BARDET-BIEDL SYNDROME TYPE 12, BBS12 209900  

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

 608348 

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO

 248600  

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

 248611 

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO

 248600  

BCS1L (BCS1, S. CEREVISIAE, HOMOLOG-LIKE)

 603647

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

 124000 .

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 .
LEIGH SYNDROME 256000 .

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

 601299 JUVENILE POLYPOSIS SYNDROME 174900  
POLYPOSIS SYNDROME, HEREDITARY MIXED, TYPE 2 610069  

COWDEN DISEASE 
» LHERMITTE-DUCLOS DISEASE 

 158350  

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

603248

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

112600

.

BMPR2

600799

PRIMARY PULMONARY HYPERTENSION, PPH1

178600

.
BRAF (V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1, RAFB1) 164757 CARDIOFACIOCUTANEOUS SYNDROME, CFC 115150  
LYMPHOMA, NON-HODGKIN    
NONSMALL CELL LUNG CANCER, SOMATIC    
ADENOCARCINOMA OF LUNG, SOMATIC    
COLORECTAL CANCER, SOMATIC 114500  
THYROID CARCINOMA, PAPILLARY, SOMATIC    
MELANOMA, MALIGNANT, SOMATIC    

BRCA1

113705

BREAST AND OVARIAN CANCER 

113705

Whole Gene (sequencing and MLPA)

PROSTATE CANCER 

176807

Whole Gene (sequencing and MLPA)

BRCA1 and BRCA2

.

BREAST AND OVARIAN CANCER 

.

2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year

PROSTATE CANCER 

176807

2 Whole Genes (sequencing and MLPA) or MLPA

Discounts are available for more than 100 tests per year

BRCA2

600185

BREAST AND OVARIAN CANCER 

600185

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

PROSTATE CANCER 

176807

Whole Gene (sequencing and MLPA) or
3 Common Askhenazi Jewish Mutations: 185delAG and 5382insC (BRCA1) and 6174delT (BRCA2)
BSCL2 (SEIPIN) 606158 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  
BSND (BARTTIN) 606412 BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS		 602522  

BTD (BIOTINIDASE)

 609019 

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

 253260

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

BTK  (BRUTON TYROSINE KINASE, ATK, BPK)

300300

AGAMMAGLOBULINEMIA (X-LINKED), XLA
» BRUTON AGAMMAGLOBULINEMIA 
» HYPOGAMMAGLOBULINEMIA (X-LINKED) 

300300

.
 

 

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

C

Gene Gene OMIM Disease Disease OMIM Comment

C10ORF2 (CHROMOSOME 10 OPEN READING FRAME 2,  T7 GENE 4-LIKE PROTEIN WITH INTRAMITOCHONDRIAL NUCLEOID LOCALIZATION, TWINKLE)

 606075   PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (AUTOSOMAL DOMINANT), TYPE 3 609286  .
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC 157640 .

SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SANDO
»  SPINOCEREBELLAR ATAXIA WITH EPILEPSY

 607459 .

C1NH  (C1 ESTERASE INHIBITOR, SERPING 1)

606860

ANGIOEDEMA 
» ANGIONEUROTIC EDEMA
» QUINCKE EDEMA

106100

.
C3 (COMPLEMENT COMPONENT 3) 120700 COMPLEMENT COMPONENT 3 DEFICIENCY (AUTOSOMAL RECESSIVE)
» C3 DEFICIENCY (AUTOSOMAL RECESSIVE)		 120700  
MACULAR DEGENERATION, AGE-RELATED, TYPE 9, SUSCEPTIBILITY TO 611378  
CA2 (CARBONIC ANHYDRASE 2)
 259730 OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS
» GUIBAUD - VAINSEL SYNDROME
» CARBONIC ANHYDRASE 2 DEFICIENCY
» MARBLE BRAIN DISEASE		 259730 . 

CACNA1A (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT, CALCIUM CHANNEL, L TYPE, ALPHA-1 POLYPEPTIDE, ISOFORM 4, CACNL1A4)

601011

SPINOCEREBELLAR ATAXIA 6, SCA6

183086

See SCA1, SCA2, SCA3, SCA6
MIGRAINE, FAMILIAL HEMIPLEGIC, 1
» MIGRAINE, SPORADIC HEMIPLEGIC 		141500  
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  

CACNA1S (CACNL1A3)

114208

HYPOKALEMIC PERIODIC PARALYSIS, HOKPP
» HYPERKALEMIC PERIODIC PARALYSIS

170400

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

MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5, MHS5

601887

Exons 11 and 30, including the R528H, R1239H and R1239G Mutations
THYROTOXIC PERIODIC PARALYSIS
» HASHITOXIC PERIODIC PARALYSIS

188580

Exons 11 and 30, including the R528H, R1239H and R1239G Mutations
CACNB4 (CALCIUM CHANNEL, VOLTAGE-DEPENDENT, BETA-4 SUBUNIT) 601949 EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME		 606904  
EPILEPSY, IDIOPATHIC GENERALIZED
» EPISODIC ATAXIA, TYPE 5, EA5		 600669  

CAPN3  (CALPAIN 3)

114240

LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A
» MUSCULAR DYSTROPHY, LIMB GIRDLE MUSCULAR DYSTROPHY 2A, LGMD2A

253600

.
CASP8 (CASPASE 8, FLICE, MCH5) 601763 CASPASE 8 DEFICIENCY 607271  
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 1, ALPS, ALPS1A, ALPS1B 601859  
CASP10 (CASPASE 10, MCH4, CASP10B, FLICE2) 601762 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE 2, ALPS2 603909  

CASQ2 (CALSEQUESTRIN 2)

 114251

VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC
» VENTRICULAR TACHYCARDIA, STRESS-INDUCED POLYMORPHIC

 604772  

CASR  (CALCIUM-SENSING RECEPTOR, PCAR1)

601199

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

145980

Whole Gene or Deletion-Duplication

HYPOCALCEMIA (AUTOSOMAL DOMINANT) 

601198

Whole Gene or Deletion-Duplication

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM 

239200

Whole Gene or Deletion-Duplication

HYPOPARATHYROIDISM, FAMILIAL ISOLATED 

146200

Whole Gene or Deletion-Duplication
CAT (CATALASE) 115500 ACATALASEMIA
» ACATALASIA
» CATALASE DEFICIENCY		 115500 . 

CAV3 (CAVEOLIN 3)

601253

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

607801

.
RIPPLING MUSCLE DISEASE 2, RMD
 606072 .
CBS (CYSTATHIONINE BETA-SYNTHASE) 236200 HOMOCYSTINURIA
» CYSTATHIONINE BETA-SYNTHASE DEFICIENCY		 236200 Whole Gene or Exons 4 and 8 (Including GLY307SER and ILE278THR)
CCM2 (MALCAVERNIN) 607929 CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 2		 603284  
CCR5 601373 RESISTANCE TO HIV (HUMAN IMMUNODEFICIENCY VIRUS TYPE 1) 609423 1 Mutation: DEL32 BP
CD2AP (CD2-ASSOCIATED PROTEIN) 604241 FOCAL SEGMENTAL GLOMERULOSCLEROSIS, TYPE 3 607832  

CD3D (CD3 ANTIGEN, DELTA SUBUNIT, T-CELL ANTIGEN RECEPTOR COMPLEX, DELTA SUBUNIT OF T3)

 186790 SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID

608971

  

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

 186830 SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, SCID 608971  
IMMUNODEFICIENCY DUE TO DEFECT IN CD3-EPSILON 186830  

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

 109535

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

 606843  
CDAN1 (CODANIN 1, DISCS LOST, DROSOPHILA, HOMOLOG OF)
 607465  ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE 1
» DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE 1		 224120  

CDH1 (CADHERIN 1, UVOMORULIN)

  		 192090 GASTRIC CANCER, FAMILIAL DIFFUSE 137215 Whole Gene or Deletion-Duplication
CLEFT LIP WITH OR WITHOUT CLEFT PALATE, WITH GASTRIC CANCER, FAMILIAL DIFFUSE 192090 Whole Gene or Deletion-Duplication
CANCER (SOMATIC MUTATIOS) . Whole Gene or Deletion-Duplication

CDK4

123829

MALIGNANT MELANOMA, CMM3

609048

Whole Gene or Exon 2
CDKL5 (CYCLIN-DEPENDENT KINASE-LIKE 5, STK9)
.  RETT SYNDROME, ATYPICAL 312750 . 
INFANTILE SPASMS (X-LINKED), ISS X
» WEST SYNDROME
» EPILEPSY, INFANTILE SPASMS (X-LINKED)

308350

 . 
ANGELMAN SYNDROME, ATYPICAL 105830 . 

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

 600856

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

 130650  

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

600160

CUTANEOUS MALIGNANT MELANOMA 2, CMM2

155601

.

MALIGNANT MELANOMA WITH NEURAL CELL TUMORS 
» MELANOMA-ASTROCYTOMA SYNDROME 

155755

.
CEBPA (CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; C/EBP-ALPHA) 116897 LEUKEMIA, ACUTE MYELOID, AML 601626  
CEP290 (CENTROSOMAL PROTEIN, 290-KD, NEPHROCYSTIN 6; NPHP6)

 610142  JOUBERT SYNDROME, TYPE 5 610188  
LEBER CONGENITAL AMAUROSIS, TYPE 1, LCA1
» RETINAL BLINDNESS, CONGENITAL		 204000  
MECKEL SYNDROME, TYPE 4 611134  
SENIOR-LOKEN SYNDROME TYPE 6, SLSN6 610189  

CETP (CHOLESTERYL ESTER TRANSFER PROTEIN, LIPID TRANSFER PROTEIN 1)

118470

CHOLESTERYL ESTER TRANSFER PROTEIN DEFICIENCY 
» CETP DEFICIENCY 

607322

.
CFB (COMPLEMENT FACTOR B;PROPERDIN FACTOR B; FACTOR B; C3 PROACTIVATOR; GLYCINE-RICH BETA-GLYCOPROTEIN) 138470 MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF 173470  

CFI (I FACTOR, COMPLEMENT COMPONENT 3 INACTIVATOR)

 217030 COMPLEMENT FACTOR 1 DEFICIENCY 217030  
CFH (HF1, COMPLEMENT FACTOR H)
 134370 HEMOLYTIC-UREMIC SYNDROME, HUS
» COMBINED DEFICIENCY OF FACTOR H AND FACTOR H-LIKE 1

235400

 . 

CFTR

602421

CYSTIC FIBROSIS, CF

219700

Whole Gene or
Mutations Kit or MLPA

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CBAVD

277180

Whole Gene or
Mutations Kit or MLPA

CGI58 (COMPARATIVE GENE IDENTIFICATION 58, ABHD5)

 604780

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  
CHAT (CHOLINE ACETYLTRANSFERASE) 118490 MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1A
» MYASTHENIA GRAVIS, FAMILIAL INFANTILE, TYPE 2		 254210  

CHD7 (CHROMODOMAIN HELICASE DNA-BINDING PROTEIN 7)

608892 CHARGE SYNDROME 214800  

CHEK2 (CHECKPOINT KINASE 2)

 604373 LI-FRAUMENI SYNDROME 2 609265  
BREAST CANCER, FAMILIAL 114480 Whole Gene or *1100delC

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

 300390

CHOROIDEREMIA
» TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE
» CHOROIDAL SCLEROSIS

 303100  
CHRNA1 (CHOLINERGIC RECEPTOR, NICOTINIC, ALPHA POLYPEPTIDE 1; ACETYLCHOLINE RECEPTOR, MUSCLE, ALPHA SUBUNIT) 100690 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a		 601462  
MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 608930  
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
» PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE		 253290  
CHRNA2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, ALPHA POLYPEPTIDE 2; ACETYLCHOLINE RECEPTOR, NEURONAL NICOTINIC, ALPHA-2 SUBUNIT) 118502  EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4
» EPILEPSY, FAMILIAL, WITH NOCTURNAL WANDERING AND ICTAL FEAR		 610353  

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

 118504 EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 600513  

TOBACCO ADDICTION, SUSCEPTIBILITY TO
» NICOTINE DEPENDENCE, SUSCEPTIBILITY TO

 188890  
CHRNB1 (CHOLINERGIC RECEPTOR, NICOTINIC, BETA POLYPEPTIDE 1;ACETYLCHOLINE RECEPTOR, MUSCLE, BETA SUBUNIT ) 100710 MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a		 601462  
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM		 608931  
CHRNB2 (CHOLINERGIC RECEPTOR, NEURONAL NICOTINIC, BETA POLYPEPTIDE 2) 118507  EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3 605375  
CHRNE (CHOLINERGIC RECEPTOR, NICOTINIC, EPSILON POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, EPSILON SUBUNIT) 100725 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 608930  
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 1d
» MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH FACIAL DYSMORPHISM		 608931  
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a		 601462  
CHRND (CHOLINERGIC RECEPTOR, NICOTINIC, DELTA POLYPEPTIDE; ACETYLCHOLINE RECEPTOR, MUSCLE, DELTA SUBUNIT) 100720 MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL 608930  
MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL
» MYASTHENIC SYNDROME, CONGENITAL, TYPE 2a		 601462  

CHRNG (CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE)

 		 100730 

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

265000

  

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

 253290  

CIAS1  (CRYOPYRIN)

606416

COLD URTICARIA, FCU
» FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 

120100

.

CINCA SYNDROME 
» MULTISYSTEM INFLAMMATORY DISEASE, NEONATAL ONSET, NOMID

607115

.

MUCKLE-WELLS SYNDROME 

191900

.

CLCN1

118425

MYOTONIA CONGENITA (AUTOSOMAL DOMINANT) 
» THOMSEN DISEASE 

160800

.

MYOTONIA CONGENITA (AUTOSOMAL RECESSIVE) 
» BECKER MYOTONIA 

255700

.

MYOTONIA LEVIOR 

.

.
CLCN2 600570 EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME		 606904  
EPILEPSY, JUVENILE ABSENCE 607631  
EPILEPSY WITH GRAND MAL SEIZURES ON AWAKENING 607628  

CLCN5

300008

DENT NEPHROCALCINOSIS 

300009

.

NEPHROLITHIASIS (X-LINKED) 

310468

.
CLCN7 602727 OSTEOPETROSIS, TYPE 2 (AUTOSOMAL DOMINANT), OPTA2
» ALBERS-SCHONBERG DISEASE (AUTOSOMAL DOMINANT)
» MARBLE BONES (AUTOSOMAL DOMINANT)
» OSTEOSCLEROSIS FRAGILIS GENERALISATA		 166600  
OSTEOPETROSIS, TYPE 4 (AUTOSOMAL RECESSIVE), OPTB4
» OSTEOPETROSIS, INFANTILE MALIGNANT, TYPE 2		 611490  
CLCNKA (CLCK1, CHLORIDE CHANNEL, KIDNEY, A) 602024 BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS		 602522  
CLCNKB (CLCNB, CHLORIDE CHANNEL, KIDNEY, B) 602023 BARTTER SYNDROME, TYPE 3
» BARTTER SYNDROME, CLASSIC
» BARTTER SYNDROME, TYPE 3, WITH HYPOCALCIURIA
 607364  
BARTTER SYNDROME, TYPE 4
» BARTTER SYNDROME, INFANTILE, WITH SENSORINEURAL DEAFNESS		 602522  

CLDN16 (CLAUDIN 16, PARACELLIN 1)

 603959 

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

248250

  
CLDN19 (CLAUDIN 19) 610036 HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
» MACULAR COLOBOMA, BILATERAL, WITH HYPERCALCIURIA		 248190  

CLN2 (TRIPEPTIDYL PEPTIDASE I; TPP1)

204500

CEROID LIPOFUCSINOSIS, CLN2
» JANSKY-BIELSCHOWSKY DISEASE 

204500

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

CLN3

607042

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

204200

Whole Gene or Common 1kb Deletion

CLN5 608102 CEROID LIPOFUCSINOSIS, CLN5
» NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE, FINNISH VARIANT

256731

  

CLN6

606725

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

601780

.
CLN8 607837 CEROID LIPOFUCSINOSIS, CLN8
» CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT
» NORTHERN EPILEPSY
» EPILEPSY, PROGRESSIVE, WITH MENTAL RETARDATION		 610003  

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

 CEROID LIPOFUSCINOSIS, CLN    
CNGB3 (CYCLIC NUCLEOTIDE-GATED CHANNEL, BETA-3) 605080 ACHROMATOPSIA, TYPE 3 262300  

STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1

 248200  
COCH (COCHLIN)
 603196 DEAFNESS, DFNA9
» DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 9		 603196 Whole Gene or 1 Mutation: P51S
COH1 607817  COHEN SYNDROME, COH1 216550 Whole Gene or Exon 23, including the “Finnish mutation” (c.3348-3349delCT)

COL1A1

120150

See COL1A1 and COL1A2 

.

.

COL1A1 and COL1A2

    

120150

.

    

EHLERS-DANLOS TYPE 1, EDS1

130000

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

EHLERS-DANLOS TYPE 7 , DOMINANT , EDS7

130060

Splice site mutations exons 5, 6 and 7
OSTEOGENESIS IMPERFECTA TYPE 1, OI1 166200 Only on skin fibroblast cultures for mutation analysis in proband (See note)
OSTEOGENESIS IMPERFECTA TYPE 2, OI2 166210 Only on skin fibroblast cultures for mutation analysis in proband (See note)
OSTEOGENESIS IMPERFECTA TYPE 3, OI3 259420 Only on skin fibroblast cultures for mutation analysis in proband (See note)
OSTEOGENESIS IMPERFECTA TYPE 4, OI4 166220 Only on skin fibroblast cultures for mutation analysis in proband (See note)

COL1A2

120160

See COL1A1 and COL1A2 

.

.
COL2A1

   

 120140

   

 ACHONDROGENESIS TYPE 2 200610  

HYPOCHONDROGENESIS

.

 
KNIEST DYSPLASIA
 156550  
STICKLER SYNDROME TYPE 1 108300  
SPONDYLOEPIPHYSEAL DYSPLASIA (SED CONGENITA)
183900  
COL3A1  120180  EHLERS -DANLOS TYPE 4 EDS 4 130050 Only on skin fibroblast cultures for mutation analysis in proband (See note)
FIBROMUSCULAR DYSPLASIA 135580 Only on skin fibroblast cultures for mutation analysis in proband (See note)
COL4A1 120130 PORENCEPHALY, FAMILIAL
» HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY		 175780 Whole Gene or Deletion-Duplication
ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HANAC 611773 Whole Gene or Deletion-Duplication
BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE
» LEUKOENCEPHALOPATHY WITH AXENFELD-RIEGER ANOMALY
» RETINAL ARTERIOLAR TORTUOSITY, INFANTILE HEMIPARESIS, AND LEUKOENCEPHALOPATHY		 607595 Whole Gene or Deletion-Duplication
COL4A3 

120070 

 		 ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 .  
HEMATURIA, BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY
 141200 .  
COL4A4  120131  ALPORT SYNDROME (AUTOSOMAL RECESSIVE) 203780 .  
HEMATURIA, BENIGN FAMILIAL
» THIN-BASEMENT-MEMBRANE NEPHROPATHY
 141200 .  
COL4A5 303630 ALPORT SYNDROME (X-LINKED)
» ALPORT SYNDROME-LIKE HEREDITARY NEPHRITIS

301050

 .  
COL5A1 and COL5A2  120215  EHLERS - DANLOS TYPE 1, EDS 1 130000 Only on skin fibroblast cultures for mutation analysis in proband (See note)
EHLERS - DANLOS TYPE 2, EDS 2 130010 Only on skin fibroblast cultures for mutation analysis in proband (See note)
COL6A1, COL6A2, COL6A3 120220and
120240
and
120250		 BETHLEM MYOPATHY
» MYOPATHY, BENIGN CONGENITAL, WITH CONTRACTURES
» MUSCULAR DYSTROPHY, BENIGN CONGENITAL		 158810 3 Genes
ULLRICH CONGENITAL MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, SCLEROATONIC		 254090 3 Genes
COL7A1 (COLLAGEN, TYPE 7, ALPHA-1) 120120 EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL RECESSIVE)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, TYPE HALLOPEAU-SIEMENS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, LOCALISATA VARIANT (AUTOSOMAL RECESSIVE) 		226600 . 
EPIDERMOLYSIS BULLOSA DYSTROPHICA (AUTOSOMAL DOMINANT)
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, PASINI TYPE
» ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA
» EPIDERMOLYSIS BULLOSA, PRETIBIAL WITH LICHENOID FEATURES		 131750 . 
EPIDERMOLYSIS BULLOSA, PRETIBIAL 131850 . 
EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE		 132000 . 
TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, NEONATAL (AUTOSOMAL DOMINANT)
» TOENAIL DYSTROPHY, ISOLATED		 131705 . 
EPIDERMOLYSIS BULLOSA PRURIGINOSA (AUTOSOMAL DOMINANT AND RECESSIVE)

604129

 . 
EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE
» EPIDERMOLYSIS BULLOSA SIMPLEX SUPERFICIALIS
» EPIDERMOLYSIS BULLOSA DYSTROPHICA, COCKAYNE-TOURAINE TYPE		 607600 . 

COL10A1  (COLLAGEN, TYPE X, ALPHA1)

120110

METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE 

156500

Whole Gene

COL11A1 (COLLAGEN, TYPE 11, ALPHA-1)

 120280 MARSHALL SYNDROME 154780 Turn-around-time: 30 Weeks
STICKLER SYNDROME, TYPE 2 604841 Turn-around-time: 30 Weeks
COL11A2 (COLLAGEN, TYPE 11, ALPHA-2) 120290 STICKLER SYNDROME, TYPE 3 184840 Turn-around-time: 30 Weeks
DEAFNESS, DFNA53
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 53		 609706 Turn-around-time: 30 Weeks
WEISSENBACHER-ZWEYMULLER SYNDROME
» PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA		 277610 Turn-around-time: 30 Weeks
DEAFNESS, DFNA13
»DEAFNESS, (AUTOSOMAL DOMINANT), NONSYNDROMIC SENSORINEURAL 13 		601868 Turn-around-time: 30 Weeks
OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, OSMED 215150 Turn-around-time: 30 Weeks
COL17A1 (COLLAGEN, TYPE 17, ALPHA-1)
 113811 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 . 
COLQ (COLLAGENIC TAIL OF ENDPLATE ACETYLCHOLINESTERASE; ACETYLCHOLINESTERASE-ASSOCIATED COLLAGEN) 603033 ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY
» ENGEL CONGENITAL MYASTHENIC SYNDROME
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1C		 603034  

COMP

600310

MULTIPLE EPIPHYSEAL DYSPLASIA 1, EDM1

132400

Whole Gene or Exons 13, 14 and 16 harbouring 70% of COMP mutations

PSEUDOACHONDROPLASIA 

177170

Whole Gene or Exons 13, 14 and 16 harbouring 70% of COMP mutations
COQ2 (COQ2, S. CEREVISIAE, HOMOLOG OF; PARAHYDROXYBENZOATE-POLYPRENYLTRANSFERASE, MITOCHONDRIAL) 609825 COENZYME Q10 DEFICIENCY 607426  

COX10 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX10, HEME A:FARNESYLTRANSFERASE)

 602125

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

 220110 .
LEIGH SYNDROME 256000 .

COX15 (CYTOCHROME c OXIDASE ASSEMBLY PROTEIN COX15)

 603646 CYTOCHROME c OXIDASE DEFICIENCY
» COX DEFICIENCY
» COMPLEX 4, MITOCHONDRIAL RESPIRATORY CHAIN, DEFICIENCY OF		 220110 .
LEIGH SYNDROME 256000 .
CPO (COPROPORPHYRINOGEN OXIDASE) 121300 COPROPORPHYRIA
» COPROPORPHYRINOGEN OXIDASE DEFICIENCY
» HARDEROPORPHYRINURIA		 121300  
CPS1 (CARBAMOYL PHOSPHATE SYNTHETASE 1) 608307 CARBAMOYL PHOSPHATE SYNTHETASE 1 DEFICIENCY, HYPERAMMONEMIA DUE TO
» CPS1 DEFICIENCY		 237300  

CPT1A (CARNITINE PALMITOYLTRANSFERASE 1, LIVER, CPT1)

 600528 

CARNITINE PALMITOYLTRANSFERASE 1A DEFICIENCY
» CPT1 DEFICIENCY

 255120 .
CPT1B (CARNITINE PALMITOYLTRANSFERASE I, MUSCLE) 601987 NO DISEASE .  

CPT2 (CARNITINE PALMITOYLTRANSFERASE 2, LIVER, CPT2)

   		 600650    

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, INFANTILE
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, HEPATOCARDIOMUSCULAR
» CPT2 DEFICIENCY, HEPATIC

 600649  .

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  .

CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, LETHAL NEONATAL
» CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY, NEONATAL
» CPT2 DEFICIENCY, LETHAL NEONATAL

 608836  .
MYOPATHY, VARIABLE   .

CRB1 (CRUMBS, DROSOPHILA, HOMOLOG OF, 1)

 604210 LEBER CONGENITAL AMAUROSIS DUE TO DEFECT IN CRB1 604210  

RETINITIS PIGMENTOSA 12, RP12
» RP12 WITH COATS-LIKE EXUDATIVE VASCULOPATHY
» RETINITIS PIGMENTOSA WITH PARAARTERIOLAR PRESERVATION OF RETINAL PIGMENT EPITHELIUM

 600105  
PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY 172870  

CREBBP (CREB-BINDING PROTEIN, CBP)

 600140 

RUBINSTEIN-TAYBI SYNDROME
» BROAD THUMBS AND GREAT TOES, CHARACTERISTIC FACIES, AND MENTAL RETARDATION
» BROAD THUMB-HALLUX SYNDROME

 180849 Whole Gene
CRTAP (CARTILAGE-ASSOCIATED PROTEIN) 605497 OSTEOGENESIS IMPERFECTA, TYPE 7, OI7 610682  
CSRP3 (CYSTEINE- AND GLYCINE-RICH PROTEIN 3; LIM DOMAIN PROTEIN, CARDIAC) 600824 CARDIOMYOPATHY, DILATED, TYPE 1M 607482  
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, TYPE 12 612124  

CSTB  (CYSTATIN B, STEFIN B)

601145

EPILEPSY, PROGRESSIVE MYOCLONUS 
» UNVERRICH-LUNDBORG DISEASE 

254800

Repeat
CTDP1 (C-TERMINAL DOMAIN OF RNA POLYMERASE II SUBUNIT A, PHOSPHATASE OF, SUBUNIT 1; TRANSCRIPTION FACTOR IIF-ASSOCIATING CTD PHOSPHATASE 1; FCP1) 604927 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CCFDN 604168 1 Mutation: IVS6, C-T, +389
CTF1 (CARDIOTROPHIN 1) 600435 CARDIOMYOPATHY, DILATED    

CTNS (CYSTINOSIN)

 606272 CYSTINOSIS, NEPHROPATHIC 219800 Whole Gene or Common 56 kb Deletion

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

 219900 Whole Gene or Common 56 kb Deletion
CYSTINOSIS, ADULT NONNEPHROPATHIC 219750 Whole Gene or Common 56 kb Deletion
CTRC (CHYMOTRYPSIN C, CALDECRIN) 601405 HEREDITARY PANCREATITIS 167800  
CTSK (CATHEPSIN K)
601105  PYCNODYSOSTOSIS 265800 .  

CX26  (CONNEXIN 26)

..

See GJB2 

.

.

CX30  (CONNEXIN 30)

..

See GJB6 

.

.

CX30.3  (CONNEXIN 30.3)

..

See GJB4 

.

.

CX31  (CONNEXIN 31)

..

See GJB3 

.

.

CYBA  (p22 PHOX)

233690

CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) CYTOCHROME-b-NEGATIVE FORM 

233690

.

CYBB  (p91 PHOX)

306400

CHRONIC GRANULOMATOUS DISEASE (X-LINKED) 

306400

.
CYP1B1,
OPTN and
MYOC

GLAUCOMA . Analysis of 3 Genes
CYP1B1 (CYTOCHROME P450, SUBFAMILY 1, POLYPEPTIDE 1)
 		 601771  GLAUCOMA 3, PRIMARY INFANTILE A, GLC3A
» BUPHTHALMOS		 231300 See also CYP1B1,
OPTN and
MYOC
PETERS ANOMALY 604229 See also CYP1B1,
OPTN and
MYOC
CYP11B1 (CYTOCHROME P450, SUBFAMILY 11B, POLYPEPTIDE 1, STEROID 11-BETA-HYDROXYLASE, P450C11) 610613  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 Whole Gene or CYP11B1/
CYP11B2 fusion
CYP11B2 (CYTOCHROME P450, SUBFAMILY XIB, POLYPEPTIDE 2, STEROID 11/18-BETA-HYDROXYLASE,
STEROID 18-OXIDASE,
ALDOSTERONE SYNTHASE, CORTICOSTERONE METHYLOXIDASE)		 124080  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

  
CYP17A1 (CYTOCHROME P450, FAMILY 17, SUBFAMILY A, POLYPEPTIDE 1; STEROID 17-ALPHA-MONOOXYGENASE) 609300 ADRENAL HYPERPLASIA, TYPE 5
» 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY
» 17-@ALPHA-HYDROXYLASE DEFICIENCY		 202110  

CYP19A1 (AROMATASE)

107910

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

107910

Sequence analysis of exons 9 and 10, including the following common mutations:
Arg365Gln
Val370Met
Arg375Cys
Arg435Cys
Cys437Tyr
Arg457Term

CYP21A2

201910

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

201910

Whole Gene and Deletions-Duplications
HYPERANDROGENISM
 .

Whole Gene and Deletions-Duplications
CYP27A1 606530

CEREBROTENDINOUS XANTHOMATOSIS, CTX
» CEREBRAL CHOLESTERINOSIS

 213700  

CYP27B1

264700

PSEUDO-VITAMIN D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE), PDDR
» RICKETS, PSEUDO-VITAMIN D DEFICIENCY RICKETS (AUTOSOMAL RECESSIVE)

264700

Whole Gene
 

 

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

D

Gene Gene OMIM Disease Disease OMIM Comment
DARS2 (ASPARTYL-tRNA SYNTHETASE 2) 610956 LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION
» MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY		 611105  

DAX1  (NROB1)

300200

ADDISON DISEASE (X-LINKED) 
» ADRENAL HYPOPLASIA, CONGENITAL 
» CONGENITAL ADRENOCORTICAL HYPOPLASIA WITH HYPOGONADOTROPIC HYPOGONADISM 

300200

.

DAZ  (DELETED IN AZOOSPERMIA)

400003

See AZFa, AZFb and AZFc 

.

.
DBH (DOPAMINE BETA-HYDROXYLASE, PLASMA; DOPAMINE BETA-MONOOXYGENASE) 609312 DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL
» NOREPINEPHRINE DEFICIENCY
» NORADRENALINE DEFICIENCY		 223360  
DBT (DIHYDROLIPOAMIDE BRANCHED-CHAIN TRANSACYLASE; BRANCHED-CHAIN ACYLTRANSFERASE, E2 COMPONENT) 248610

MAPLE SYRUP URINE DISEASE
» BRANCHED-CHAIN KETOACIDURIA
» BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE DEFICIENCY
» KETO ACID DECARBOXYLASE DEFICIENCY
» LIPOAMIDE DEHYDROGENASE DEFICIENCY, LACTIC ACIDOSIS DUE TO

 248600 Whole Gene or Deletions-Duplications

DCLRE1C (DNA CROSS-LINK REPAIR PROTEIN 1C, ARTEMIS)

 605988

SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION, SCID
» SEVERE COMBINED IMMUNODEFICIENCY (AUTOSOMAL RECESSIVE), T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION
» SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE

 602450  

OMENN SYNDROME
» RETICULOENDOTHELIOSIS, FAMILIAL, WITH EOSINOPHILIA
» SEVERE COMBINED IMMUNODEFICIENCY WITH HYPEREOSINOPHILIA

 603554  
DCTN1 (DYNACTIN 1) 601143 NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE 7B 607641  
AMYOTROPHIC LATERAL SCLEROSIS, TYPE 1, ALS1 105400  

DCX  (DOUBLECORTIN)

300121

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

300067

Whole Gene Sequencing or Deletions - Duplications
DDC (DOPA DECARBOXYLASE; AROMATIC L-AMINO ACID DECARBOXYLASE; AADC)

107930

 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
» AADC DEFICIENCY
» DOPA DECARBOXYLASE DEFICIENCY		 608643  

DES (DESMIN)

 125660

MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED
» DESMINOPATHY, PRIMARY

 601419  
DILATED CARDIOMYOPATHY, 1I, CMD1I 604765  
DGUOK (DEOXYGUANOSINE KINASE, MITOCHONDRIAL; DGK) 601465 MITOCHONDRIAL DNA DEPLETION SYNDROME, HEPATOCEREBRAL FORM 251880  

DHCR7  (DEHYDROCHOLESTEROL REDUCTASE)

602858

SMITH-LEMLI-OPITZ SYNDROME, SLO

270400

 
DHH (DESERT HEDGEHOG) 605423 GONADAL DYSGENESIS, XY TYPE 233420  
GONADAL DYSGENESIS, 46XY, PARTIAL, WITH MINIFASCICULAR NEUROPATHY 607080  
DIA1 (CYTOCHROME b5 REDUCTASE, CYB5R)
 250800   METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE 250800   .  
DJ1 602533  PARKINSON DISEASE, TYPE 7, PARK7 (AUTOSOMAL RECESSIVE) 606324 Whole Gene or Deletions

DKC1  (DYSKERIN)

300126

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

305000

.

HOYERAAL-HREIDARSSON SYNDROME 

300240

.
DLG3 300189 MENTAL RETARDATION, NONSPECIFIC (X-LINKED) 300189 See also Mental Retardation Panel
DLL3
 602768 SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 1, SCDO1
 277300 .

DMD  (DYSTROPHIN)

300377

DUCHENNE MUSCULAR DYSTROPHY, DMD
» MUSCULAR DYSTROPHY, DUCHENNE MUSCULAR DYSTROPHY

310200

 Whole Gene or Deletions-Duplications (MLPA)

BECKER MUSCULAR DYSTROPHY, BMD
» MUSCULAR DYSTROPHY, BECKER MUSCULAR DYSTROPHY

300376

 Whole Gene or Deletions-Duplications (MLPA)

DILATED CARDIOMYOPATHY (X-LINKED) 

302045

 Whole Gene or Deletions-Duplications (MLPA)
DMP1 (DENTIN MATRIX ACIDIC PHOSPHOPROTEIN 1) 600980 HYPOPHOSPHATEMIC RICKETS (AUTOSOMAL RECESSIVE)
» HYPOPHOSPHATEMIA (AUTOSOMAL RECESSIVE)		 241520  

DMPK  (DM KINASE, MYOTONIN)

605377

MYOTONIC DYSTROPHY, TYPE 1 
» STEINERT DISEASE 

160900

Repeat
DNAH5 (DYNEIN, AXONEMAL, HEAVY CHAIN 5) 603335 KARTAGENER SYNDROME
» DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
» SIEWERT SYNDROME		 244400 All 61 known Mutations in DNAH5 and DNAI1
PRIMARY CILIARY DYSKINESIA, TYPE 3
» IMMOTILE CILIA SYNDROME		 608644 All 61 known Mutations in DNAH5 and DNAI1
DNAI1 (DYNEIN, AXONEMAL, INTERMEDIATE CHAIN 1)

604366

 KARTAGENER SYNDROME
» DEXTROCARDIA, BRONCHIECTASIS, AND SINUSITIS
» SIEWERT SYNDROME		 244400 All 61 known Mutations in DNAH5 and DNAI1
PRIMARY CILIARY DYSKINESIA, TYPE 3
» IMMOTILE CILIA SYNDROME		 608644 All 61 known Mutations in DNAH5 and DNAI1
DNASE1 (DEOXYRIBONUCLEASE 1; DNase 1, LYSOSOMAL) 125505  SYSTEMIC LUPUS ERYTHEMATOSUS 152700  
DNM2 (DYNAMIN 2, DYN2) 602378 CHARCOT-MARIE-TOOTH DISEASE, INTERMEDIATE B, CMTDIB, (AUTOSOMAL DOMINANT) 606482  
MYOPATHY, CENTRONUCLEAR (AUTOSOMAL DOMINANT) 160150  
DOK7 (DOWNSTREAM OF TYROSINE KINASE 7) 610285 MYASTHENIA, LIMB-GIRDLE, FAMILIAL
» CONGENITAL MYASTHENIC SYNDROME, TYPE 1B		 254300  

DRPLA  (ATROPHIN 1)

125370

DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY, DRPLA

125370

Repeat

HAW RIVER SYNDROME, HRS

140340

Repeat
DSC2 (DESMOCOLLIN 2, DESMOSOMAL GLYCOPROTEIN 2/3) 125645 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 11, ARVD11
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11, ARVC11

610476

 See also PKP2, DSP, DSG2, DSC2 PANEL
DSG2 (DESMOGLEIN 2) 125671 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 10, ARVD10
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 10, ARVC10		 610193 See also PKP2, DSP, DSG2, DSC2 PANEL
DSP (DESMOPLAKIN) 125647 KERATOSIS PALMOPLANTARIS STRIATA, TYPE 2 125647 See also PKP2, DSP, DSG2, DSC2 PANEL
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA
» PALMOPLANTAR KERATODERMA WITH LEFT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR
» CARVAJAL SYNDROME		 605676 See also PKP2, DSP, DSG2, DSC2 PANEL
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, TYPE 8, ARVD8
» ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 8, ARVC8		 607450 See also PKP2, DSP, DSG2, DSC2 PANEL
SKIN FRAGILITY-WOOLLY HAIR SYNDROME 607655 See also PKP2, DSP, DSG2, DSC2 PANEL
EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC 609638 See also PKP2, DSP, DSG2, DSC2 PANEL
DYM (DYMECLIN) 607461 DYGGVE-MELCHIOR-CLAUSEN DISEASE 223800  
SMITH-MCCORT DYSPLASIA 607326  
DYSF (DYSFERLIN)
 603009 MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, LGMD2B 253601 . 
MIYOSHI MYOPATHY
» MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET (AUTOSOMAL RECESSIVE)
 254130 . 
MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET 606768 . 

DYT1 (TOR1A, TORSIN A)

605204

DYSTONIA MUSCULORUM DEFORMANS 
» TORSION DYSTONIA, EARLY ONSET, DYT1

128100

 GAG Deletion or Whole Gene
 

 

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

E
 
Gene Gene OMIM Disease Disease OMIM Comment

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

 300205

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

 302960  

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

 131222

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

 603041 .

ED1  (ECTODYSPLASIN A, EDA)

300451

ECTODERMAL DYSPLASIA, HYPO-ANHIDROTIC (X-LINKED), ED1

305100

.

EDAR  (ECTODYSPLASIN 1)

604095

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

129490

.

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

224900

.
EDARADD (EDAR-ASSOCIATED DEATH DOMAIN) 606603 

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

129490

  

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

224900

  
EDNRB (ENDOTHELIN RECEPTOR, TYPE B) 131244 WAARDENBURG-SHAH SYNDROME
» WAARDENBURG SYNDROME, TYPE 4
» WAARDENBURG-HIRSCHSPRUNG DISEASE		 277580  
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, TYPE 2 600155  
ABCD SYNDROME
» ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS		 600501  
EFEMP1 (EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 1, FIBULIN 3, FIBRILLIN-LIKE) 601548 DOYNE HONEYCOMB RETINAL DYSTROPHY
» MALATTIA LEVENTINESE
» DRUSEN, RADIAL (AUTOSOMAL DOMINANT)		 126600 Whole Gene Sequencing or R345W Mutation
EFNB1 (EPHRIN B1, EPLG2, LERK2, EFL3) 300035 CRANIOFRONTONASAL SYNDROME, CFNS
» CRANIOFRONTONASAL DYSOSTOSIS		 304110 .
EGF (EPIDERMAL GROWTH FACTOR, UROGASTRONE) 131530 HYPOMAGNESEMIA, RENAL, TYPE 4
» HYPOMAGNESEMIA, RENAL, NORMOCALCIURIC		 611718  
EGFR (EPIDERMAL GROWTH  FACTOR RECEPTOR) 131550 NON SMALL CELL LUNG CANCER, NSCLC 211980 Whole Gene
Fresh Tissue (ethanol-fixed tissue)
EGR2 (EARLY GROWTH RESPONSE 2) 129010    CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 1D, CMT1D 607678  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4E, CMT4E
» CONGENITAL HYPOMYELINATING NEUROPATHY		 605253  
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F, CMT4F
»DEJERINE-SOTTAS HYPERTROPHIC NEUROPATHY
» HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 3, HMSN3		 145900  

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

 604032 

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

 226980  
EIF2B1 (EUKARYOTIC TRANSLATION INITIATION FACTOR 2B, SUBUNIT 1) 606686 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 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 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 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 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER
» CHILDHOOD ATAXIA WITH CENTRAL NERVOUS SYSTEM HYPOMYELINIZATION
» CREE LEUKOENCEPHALOPATHY
» OVARIOLEUKODYSTROPHY		 603896  

ELA2 (ELASTASE 2)

130130

CYCLIC HEMATOPOIESIS
» CYCLIC NEUTROPENIA

162800

.

NEUTROPENIA, SEVERE CONGENITAL, SCN
» CONGENITAL NEUTROPENIA
» INFANTILE AGRANULOCYTOSIS
» KOSTMANN DISEASE

202700

.
ELN (ELASTIN) 130160

SUPRAVALVAR AORTIC STENOSIS, EISENBERG TYPE

 185500 Sequencing, MLPA or Both
CUTIS LAXA (AUTOSOMAL DOMINANT) 123700 Sequencing, MLPA or Both
ELOVL4 (ELONGATION OF VERY LONG CHAIN FATTY ACIDS-LIKE 4) 605512 STARGARDT DISEASE, TYPE 3
» MACULAR DYSTROPHY WITH FLECKS, TYPE 3

600110

  

EMERIN  (EMD)

300384

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

310300

.

EMX2 (EMPTY SPIRACLES, DROSOPHILA, 2, HOMOLOG OF)

 600035 SCHIZENCEPHALY 269160  

ENG (ENDOGLIN)

 131195

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER, TYPE 1
» OSLER-RENDU-WEBER DISEASE, TYPE 1
» ORW DISEASE, TYPE 1

187300 Whole Gene Sequencing
ENG and ALK1 TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER
» OSLER-RENDU-WEBER DISEASE
» ORW DISEASE		   Whole Gene Sequencing and MLPA for 2 Genes
or
MLPA for 2 Genes

EPM2A (LAFORIN)

 607566

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

 254780  
ERCC6(EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; CSB)
 133540 COCKAYNE SYNDROME, TYPE 2
» COCKAYNE SYNDROME, TYPE B		 133540 . 
ERCC8 (EXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 8; CSA) 609412 COCKAYNE SYNDROME, TYPE 1
» COCKAYNE SYNDROME, TYPE A		 216400  
ETFA (ELECTRON TRANSFER FLAVOPROTEIN, ALPHA POLYPEPTIDE) 608053 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680  
ETFB (ELECTRON TRANSFER FLAVOPROTEIN, BETA POLYPEPTIDE) 130410 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 MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY, MADD
» GLUTARIC ACIDURIA, TYPE 2
» ETHYLMALONIC-ADIPICACIDURIA
» ETFA DEFICIENCY		 231680  
EVC 604831   ELLIS-VAN CREVELD SYNDROME 225500 .  
EVC2 607261   ELLIS-VAN CREVELD SYNDROME 225500 .  

EXT1  (EXOSTOSIN 1)

133700

MULTIPLE EXOSTOSES, TYPE 1, EXT1, HME

133700

.

EXT2  (EXOSTOSIN 2)

133701

MULTIPLE EXOSTOSES, TYPE 2, EXT2, HME

133701

.

EYA1

601653

BRANCHIO-OTO-RENAL SYNDROME, TYPE1, BOR1

113650

.
 

 

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

F

Gene Gene OMIM Disease Disease OMIM Comment
F2 (FACTOR 2; COAGULATION FACTOR 2; THROMBIN; PROTHROMBIN) 176930 HYPOPROTHROMBINEMIA
» DYSPROTHROMBINEMIA
» HYPERPROTHROMBINEMIA		 176930  
F5 (COAGULATION FACTOR 5; FACTOR 5 LEIDEN; APC COFACTOR) 612309 FACTOR V DEFICIENCY
» OWREN PARAHEMOPHILIA
» LABILE FACTOR DEFICIENCY		 227400  

F7 (FACTOR 7, COAGULATION FACTOR 7)

 227500

FACTOR VII DEFICIENCY
» HYPOPROCONVERTINEMIA

 227500  

F8  (FACTOR 8)

306700

HAEMOPHILIA A 

306700

Whole Gene, Intron 1 Inversion or Intron 22 Inversion

F9  (FACTOR 9)

306900

HAEMOPHILIA B 

306900

.
F10 (COAGULATION FACTOR 10) 227600 FACTOR X DEFICIENCY
» STUART-PROWER FACTOR DEFICIENCY		 227600  

F11 (FACTOR 11, COAGULATION FACTOR 11)

 264900

PTA DEFICIENCY
» COAGULATION FACTOR 11 DEFICIENCY
» ROSENTHAL SYNDROME

 264900  
FACL4 (FATTY ACID COA LIGASE, LONG CHAIN 4)
300157 MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 63, MRX63 300387 See also Mental Retardation Panel
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 68, MRX68 300387

FAH (F UMARYLACETOACETATE HYDROLASE, FUMARYLACETOACETASE)

276700

TYROSINEMIA, TYPE 1
» HEPATORENAL TYROSINEMIA
» FUMARYLACETOACETASE DEFICIENCY
» FAH DEFICIENCY

 276700 Whole Gene Sequencing or 5 Exons (Most Common Mutations)
FAM58A (FAMILY WITH SEQUENCE SIMILARITY 58, MEMBER A) 300708  TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
» STAR SYNDROME
» SYNDACTYLY WITH RENAL AND ANOGENITAL MALFORMATIONS		 300707 Whole Gene or Deletion-Duplication
FANCA 607139 FANCONI ANEMIA
» FANCONI PANCYTOPENIA		 227650 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

FANCC

227645

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

227645

1 Mutation: IVS4+4A-G
FBLN4 (FIBULIN 4, EGF-CONTAINING FIBULIN-LIKE EXTRACELLULAR MATRIX PROTEIN 2, EFEMP2) 607844 CUTIS LAXA (AUTOSOMAL RECESSIVE) 219100  
FBLN5 (FIBULIN 5)

604580

 CUTIS LAXA (AUTOSOMAL RECESSIVE) 219100  
CUTIS LAXA (AUTOSOMAL DOMINANT) 123700  
FBN1 (FIBRILLIN1)
    		 134797     MARFAN SYNDROME, TYPE 1, MFS1 154700 Whole Gene or Deletions-Duplications

At least 20mg DNA is needed 
    
MASS PHENOTYPE
» MASS SYNDROME		 604308
ECTOPIA LENTIS 129600
FAMILIAL AORTIC ANEURYSM  
SHPHRINTZEN–GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
FBN2 (FIBRILLIN 2)
 121050 CONTRACTURAL CONGENITAL ARACHNODACTYLY, CCA
» BEALS SYNDROME
  121050 15 exons (exons 15, 22 -33 , 35-36)
FECH (FERROCHELATASE) 177000 PROTOPORPHYRIA, ERYTHROPOIETIC
» HEME SYNTHETASE DEFICIENCY
» FERROCHELATASE DEFICIENCY		 177000  

FGA  (FIBRINOGEN ALPHA)

134820

AFIBRINOGENEMIA 
» DYSFIBRINOGENEMIA
» HYPODYSFIBRINOGENEMIA, CONGENITAL

202400

 
VENOUS THROMBOEMBOLISM 188050  
AMYLOIDOSIS, FAMILIAL VISCERAL
» AMYLOIDOSIS, TYPE 8
» OSTERTAG TYPE AMYLOIDOSIS
» GERMAN TYPE AMYLOIDOSIS
» AMYLOIDOSIS, FAMILIAL RENAL 		105200  

FGB  (FIBRINOGEN BETA)

134830

AFIBRINOGENEMIA 
» DYSFIBRINOGENEMIA
» HYPODYSFIBRINOGENEMIA, CONGENITAL

202400

 
VENOUS THROMBOEMBOLISM 188050  

FGD1

305400

AARSKOG SYNDROME 
» FACIODIGITOGENITAL SYNDROME 

305400

.

FGF14 (FIBROBLAST GROWTH FACTOR 14)

 601515 

SPINOCEREBELLAR ATAXIA 27, SCA27
» CEREBELLAR ATAXIA (AUTOSOMAL DOMINANT), FGF14-RELATED

 609307  

FGF23  (FIBROBLAST GROWTH FACTOR 23)

605380

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

193100

Whole Gene or Deletion-Duplication

FGFR1

136350

KALLMANN SYNDROME TYPE 2, KAL2 
» HYPOGONADOTROPIC HYPOGONADISM AND ANOSMIA, TYPE 2

147950

Whole Gene

JACKSON-WEISS SYNDROME 
» CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

123150

 

PFEIFFER SYNDROME 
» CRANIOSYNOSTOSIS, PFEIFFER SYNDROME

101600

Selected exons. Also includes testing of selected exons of FGFR2

FGFR2

176943

APERT SYNDROME
» CRANIOSYNOSTOSIS, APERT SYNDROME

101200

2 Mutations: S252W, P253R

BEARE-STEVENSON CUTIS GYRATA 
» CRANIOSYNOSTOSIS, BEARE-STEVENSON CUTIS GYRATA

123790

.

CROUZON SYNDROME 
» CRANIOSYNOSTOSIS, CROUZON SYNDROME

123500

.
DIFFERENT DISEASES   Whole Gene

JACKSON-WEISS SYNDROME 
» CRANIOSYNOSTOSIS, JACKSON-WEISS SYNDROME

123150

.

SAETHRE-CHOTZEN SYNDROME 
» CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

101400

.

PFEIFFER SYNDROME 
» CRANIOSYNOSTOSIS, PFEIFFER SYNDROME

101600

Selected exons. Also includes testing of selected exons of FGFR2

FGFR3

134934

ACHONDROPLASIA 

100800

2 Mutations: G380R, G375C
DIFFERENT DISEASES   Whole Gene

HYPOCHONDROPLASIA 

146000

 7 Mutations: I538V, N540T, N540S, N540K, K650N, K650M, K650Q
or
7 Mutations: S84L, R200C, N262H, G268C, Y278C, S279C, V381E

NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS (MUENKE) 
» CRANIOSYNOSTOSIS, NONSYNDROMIC CORONAL CRANIOSYNOSTOSIS

602849

.

SAETHRE-CHOTZEN SYNDROME 
» CRANIOSYNOSTOSIS, SAETHRE-CHOTZEN SYNDROME

101400

.

THANATOPHORIC DYSPLASIA, TYPE 1 

187600

.

THANATOPHORIC DYSPLASIA, TYPE 2 

187601

.

SADDAN DYSPLASIA
» CRANIOSYNOSTOSIS, SADDAN DYSPLASIA  

.

.

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

.

.

FGG  (FIBRINOGEN GAMMA)

134850

AFIBRINOGENEMIA 
» DYSFIBRINOGENEMIA
» HYPODYSFIBRINOGENEMIA, CONGENITAL

202400

 
FH (FUMARATE HYDRATASE, FUMARASE)
  		 136850   FUMARASE DEFICIENCY
» FUMARIC ACIDURIA
 606812  
MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, MCUL1 150800
HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER, HLRCC 605839
FKRP (FUKUTIN-RELATED PROTEIN)
 		 606596   MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1C, MDC1C 606612 .  
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2I, LGMD2I 607155 .  
FKTN (FUKUTIN; FCMD) 607440 FUKUYAMA CONGENITAL MUSCULAR DYSTROPHY
» MUSCULAR DYSTROPHY, CONGENITAL PROGRESSIVE, WITH MENTAL RETARDATION
» MICROPOLYGYRIA WITH MUSCULAR DYSTROPHY
» CEREBROMUSCULAR DYSTROPHY, FUKUYAMA TYPE		 253800  
WALKER-WARBURG SYNDROME
» HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA
» HARD SYNDROME
» PAGON SYNDROME		 236670  
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M, LGMD2M 611588  
CARDIOMYOPATHY, DILATED, TYPE 1X 611615  

FLCN (FOLLICULIN, FLCL)

 		 607273 

BIRT-HOGG-DUBE SYNDROME, BHD
» FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS

 135150  
PNEUMOTHORAX, PRIMARY SPONTANEOUS 173600  
FLG (FILAGGRIN, PROFILAGGRIN)
 135940  ICHTHYOSIS VULGARIS
» ICHTHYOSIS SIMPLEX

146700

 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 )
ATOPIC DERMATITIS . 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 )
ASTHMA . 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 )

FLNA (FILAMIN A)

300017

HETEROTOPIA, PERIVENTRICULAR (X-LINKED DOMINANT)
» PERIVENTRICULAR NODULAR HETEROTOPIA 1
» NODULAR HETEROTOPIA
» BILATERAL PERIVENTRICULAR HETEROTOPIA
» PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA

 300049  
OTOPALATODIGITAL SYNDROME, TYPE 1, OPD1 311300 Exon 3

OTOPALATODIGITAL SYNDROME, TYPE 2, OPD2
» CRANIOORODIGITAL SYNDROME
» FACIOPALATOOSSEOUS SYNDROME

 304120 Exons 3, 5, 11, 22, 29, 45
FRONTOMETAPHYSEAL DYSPLASIA 305620 Exons 22, 29

MELNICK-NEEDLES SYNDROME
» OSTEODYSPLASTY OF MELNICK AND NEEDLES

309350

 Exon 22

HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
» PERIVENTRICULAR NODULAR HETEROTOPIA 4

 300537  
FLNB (FILAMIN B) 663381 SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
» SYNSPONDYLISM, CONGENITAL		 272460 . 
LARSEN SYNDROME (AUTOSOMAL DOMINANT) 150250 . 
ATELOSTEOGENESIS, TYPE 1
» GIANT CELL CHONDRODYSPLASIA
» SPONDYLOHUMEROFEMORAL HYPOPLASIA		 108720 . 
ATELOSTEOGENESIS, TYPE 3 108721 . 
BOOMERANG DYSPLASIA 112310 . 
FLT4 (FMS-LIKE TYROSINE KINASE 4, VASCULAR ENDOTHELIAL GROWTH FACTOR RECEPTOR 3, VEGFR3) 136253 LYMPHEDEMA, HEREDITARY, TYPE 1
» NONNE-MILROY LYMPHEDEMA
» MILROY DISEASE
» PRIMARY CONGENITAL LYMPHEDEMA		 153100 10 Exons: Exons 17-26, representing 90% of reported mutations

FMO3  (FLAVIN - CONTAINING MONOOXYGENASE 3)

136132

FISH-ODOR SYNDROME 
» TRIMETHYLAMINURIA

602079

.

FMR1

309550

FRAGILE X SYNDROME, FRAXA

309550

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

FMR2

309548

FRAGILE E SYNDROME, FRAXE

309548

Repeat

FOXC1 (FORKHEAD BOX C1, FORKHEAD, DROSOPHILA, HOMOLOG-LIKE 7, FKHL7 FORKHEAD-RELATED ACTIVATOR 3, FREAC3)

 601090 RIEGER SYNDROME, TYPE 1, RIEG1 180500 Whole Gene Sequencing or Deletion-Duplication

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

 137600 Whole Gene Sequencing or Deletion-Duplication
PETERS ANOMALY 604229 Whole Gene Sequencing or Deletion-Duplication
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS   Whole Gene Sequencing or Deletion-Duplication
FOXC2 (FORKHEAD BOX C2) 602402 LYMPHEDEMA-DISTICHIASIS SYNDROME 153200  
LYMPHEDEMA, HEREDITARY, TYPE 2
» MEIGE LYMPHEDEMA		 153400  
LYMPHEDEMA AND PTOSIS 153000  

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

 602617

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

 241850  
FOXG1 (FORKHEAD BOX G1; BRAIN FACTOR 1) 164874  RETT SYNDROME, CONGENITAL VARIANT 164874  
FOXL2 605597 BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, BPES
 110100  
FOXP2 (FORKHEAD BOX P2; TRINUCLEOTIDE REPEAT-CONTAINING GENE 10) 605317 SPEECH-LANGUAGE DISORDER, TYPE 1
» DEVELOPMENTAL VERBAL DYSPRAXIA
» SPEECH AND LANGUAGE DISORDER WITH OROFACIAL DYSPRAXIA		 602081  

FOXP3 (FORKHEAD BOX P3, SCURFIN)

 300292 

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

FRDA  (FRATAXINE)

606829

FRIEDREICH ATAXIA, FRDA

229300

Whole Gene, Repeat or 5 Exons: 1-5

FREM2 (FRAS1-RELATED EXTRACELLULAR MATRIX PROTEIN 2)

 608945 

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

 219000 Exon 6

FSHD

158900

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

158900

Repeat

At least 10ml EDTA Blood
FSHR (FOLLICLE-STIMULATING HORMONE RECEPTOR; FSH RECEPTOR; OVARIAN HYPERSTIMULATION SYNDROME, MODERATOR OF SEVERITY OF) 136435 OVARIAN DYSGENESIS TYPE 1, ODG1
» GONADAL DYSGENESIS, XX TYPE
» OVARIAN DYSGENESIS, HYPERGONADOTROPIC (AUTOSOMAL RECESSIVE)		 233300  
FTCD (FORMIMINOTRANSFERASE CYCLODEAMINASE) 606806 FORMIMINOTRANSFERASE DEFICIENCY
» GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY
» FORMIMINOGLUTAMIC ACIDURIA
» FIGLU-URIA		 229100  

FTL (FERRITIN LIGHT CHAIN)

 		 134790 HYPERFERRITINEMIA-CATARACT SYNDROME 600886  

BASAL GANGLIA DISEASE, ADULT-ONSET
» NEUROFERRITINOPATHY

 606159  
FTSJ1 (FTSJ HOMOLOG 1)
300499 MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 44, MRX44 300501 See also Mental Retardation Panel
MENTAL RETARDATION, NONSPECIFIC (X-LINKED), TYPE 9, MRX9 309549
FUCA1 (ALPHA-L-FUCOSIDASE) 230000 FUCOSIDOSIS
» ALPHA-L-FUCOSIDASE DEFICIENCY 		230000  
FXYD2 (FXYD DOMAIN-CONTAINING ION TRANSPORT REGULATOR 2, SODIUM-POTASSIUM-ATPase, GAMMA-1 POLYPEPTIDE) 601814 HYPOMAGNESEMIA, RENAL, TYPE 2 154020  
FZD4 (FRIZZLED, DROSOPHILA, HOMOLOG OF, 4) 604579 EXUDATIVE VITREORETINOPATHY, TYPE 1
» CRISWICK-SCHEPENS SYNDROME
» RETINOPATHY OF PREMATURITY		 133780  
 

 

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

G

Gene Gene OMIM Disease Disease OMIM Comment

G6PC  (GLUCOSE-6-PHOSPHATASE)

232200

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

232200

 

G6PD (GLUCOSE-6-PHOSPHATE DEHYDROGENASE)

305900

G6PD DEFICIENCY
» GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY

305900

.
G6PT1 (GLUCOSE-6-PHOSPHATE TRANSPORTER 1, GLUCOSE-6-PHOSPHATE TRANSLOCASE) 602671 GLYCOGEN STORAGE DISEASE, TYPE 1B
» GSD TYPE 1B 		232220  
GAA (GLUCOSIDASE, ALPHA, ACID, ACID MALTASE) 606800 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  
GABRA1 (GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-1; GABA-A RECEPTOR, ALPHA-1 POLYPEPTIDE) 137160 EPILEPSY, JUVENILE MYOCLONIC, JME
» JANZ SYNDROME		 606904  
EPILEPSY, CHILDHOOD ABSENCE, TYPE 4, ECA4 611136  
GABRD (GAMMA-AMINOBUTYRIC ACID RECEPTOR, DELTA;GABA-A RECEPTOR, DELTA POLYPEPTIDE) 137163 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

  

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

 137164 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  
EPILEPSY, CHILDHOOD ABSENCE, TYPE 2, ECA2 607681