ExonArrayDx
Gene list for clinical testing
Exon-level deletion/duplication testing is available for more than 375 clinically significant genes. ExonArrayDx is an oligonucleotide microarraybased (oligo array CGH) test developed by GeneDx to examine one or more genes for full or partial gene deletions or duplications at the exon
level. The following list contains clinically relevant genes (and their associated disorders) that are available for deletion/duplication testing by
ExonArrayDx. Deletions/duplications of these genes have been published in the literature. ExonArrayDx can be ordered for one specific gene
or for a custom panel of clinically related genes (up to 10 genes selected by the ordering physician or genetic counselor). Please use the
general submission form to request testing. This list is searchable – please use the search function in any PDF reader software to find
specific entries.
Genes listed individually by disease name
Disorder
Gene
Disorder
Gene
17-beta-hydroxysteroid dehydrogenase III deficiency
HSD17B3
Antithrombin III deficiency, thrombophilia
SERPINC1
17-beta-hydroxysteroid dehydrogenase X deficiency
HSD17B10
Antley-Bixler syndrome, ABS, POR deficiency
POR
2q23 microdeletion syndrome
MBD5
Arginase deficiency
ARG1
3-methylcrontonyl-CoA carboxylase deficiency
MCCC1
Argininosuccinate lyase deficiency
ASL
3-methylcrontonyl-CoA carboxylase deficiency
MCCC2
Aromatase deficiency, female pseudohermaphroditism
CYP19A1
3-Methylglutaconic aciduria type 1
AUH
ARX-related disorders
ARX
46,XY complete gonadal dysgenesis
SRY
Arylsulfatase A deficiency
ARSA
46,XY disorder of sex development
DMRT1
Ataxia telangiectasia
ATM
46,XY disorder of sex development
WNT4
Atrial fibrillation
GJA5
46,XY disorder of sex development
NR5A1
Atrial septal defect 2
GATA4
46,XY disorder of sex development
DHH
NKX2-5
46,XY disorder of sex development, adrenal hypoplasia congenita, X linked
NR0B1
Atrial septal defect with atrioventricular conduction defects, tetralogy of
Fallot
Achromatopsia
CNGA3
Atypical Rett syndrome, epileptic encephalopathy
CDKL5
Achromatopsia
CNGB3
Autism susceptibility locus
AHI1
Achromatopsia
GNAT2
Autism susceptibility locus
AUTS2
Adenomatous polyposis colorectal cancer
MUTYH
Autism susceptibility locus
SLC4A10
Agammaglobulinemia, X-linked
BTK
Alagille syndrome
Autism susceptibility locus, 16p13.3 deletion syndrome, ATAXIN2-binding
protein 1
RBFOX1
JAG1
Alpha-L-fucosidase deficiency
FUCA1
Autism susceptibility locus, 22q13.3 deletion syndrome
SHANK3
Alpha-thalassemia-mental retardation syndrome, X-linked
ATRX
Autoimmune lymphoproliferative syndrome type Ia, ALPS
FAS
Alport syndrome
COL4A5
Autoimmune lymphoproliferative syndrome, type IIA and IIB, ALPS
CASP8
Amyloid polyneuropathy, amyloid cardiomyopathy
TTR
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
syndrome, APECED, autoimmune polyglandular syndrome
AIRE
Androgen insensitivity syndrome, testicular feminization syndrome
AR
Autosomal dominant mental retardation 1
MBD5
Angelman syndrome
UBE3A
Autosomal dominant mental retardation 2
DOCK8
Aniridia
DCDC1
Autosomal recessive congenital ichthyosis
ALOX12B
Aniridia
ELP4
Autosomal recessive congenita ichthyosis
NIPAL4
Aniridia
PAX6
Autosomal recessive congenital ichthyosis
ALOXE3
Anophthalmia, microphthalmia, autosomal dominant
BMP4
Axenfeld-Rieger syndrome, anterior segment ocular dysgenesis
PITX2
Anophthalmia, microphthalmia, autosomal dominant
OTX2
Axenfeld-Rieger syndrome, anterior segment ocular dysgenesis
FOXC1
Anophthalmia, microphthalmia, autosomal dominant
SIX6
Best macular dystrophy
BEST1
Anophthalmia, microphthalmia, autosomal dominant
SOX2
Beta-ketothiolase deficiency
ACAT1
Anophthalmia, microphthalmia, autosomal recessive
VSX2
Beta-thalassemia
HBB
Anophthalmia, microphthalmia, autosomal recessive
RAX
Bilateral frontoparietal polymicrogyria
GPR56
Anophthalmia, microphthalmia, autosomal recessive
STRA6
Biotinidase deficiency
BTD
Anterior segment mesenchymal dysgenesis
PITX3
Birt-Hogg-Dube syndrome
FLCN
Anterior segment ocular dysgenesis
FOXE3
Blepharophimosis, ptosis, and epicanthus inversus, BPES
FOXL2
Anterior segment ocular dysgenesis, microphthalmia
BCOR
Bloom syndrome
BLM
Page 1 of 6
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ExonArrayDx
Gene list for clinical testing
Genes listed individually by disease name
Disorder
Gene
Disorder
Gene
Brachydactyly-mental retardation syndrome
HDAC4
Congenital disorder of glycosylation IC
ALG6
Brachydactyly, type B1, Robinow syndrome
ROR2
Congenital insensitivity to pain with anhidrosis, CIPA
NTRK1
Branchio-oto-renal syndrome
EYA1
Congenital stationary night blindness, type 1B
GRM6
Branchiootic syndrome
SIX1
Congenital stationary night blindness, type 1C
TRPM1
Brugada syndrome
CACNB2
Congenital stationary night blindness, type 2B
CABP4
Brugada syndrome 2
GPD1L
Congenital stationary night blindness, X-linked
NYX
Campomelic dysplasia
SOX9
Corneal dystrophy
CYP4V2
Canavan disease
ASPA
Cornelia de Lange syndrome
SMC1A
Carbamoyl phosphate synthetase I deficiency
CPS1
Cornelia de Lange syndrome
NIPBL
Carney complex
PRKAR1A
Costello syndrome
HRAS
Carnitine palmitoyltransferase I deficiency
CPT1A
Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome
PTEN
Carnitine palmitoyltransferase II deficiency
CPT2
Craniofrontonasal syndrome
EFNB1
Carpenter disease
RAB23
Currarino syndrome
MNX1
Cartilage hair hypoplasia, anauxetic dysplasia
RMRP
Cutis laxa, autosomal recessive
EFEMP2
Catecholaminergic polymorphic ventricular tachycardia
RYR2
FBLN5
Catecholaminergic polymorphic ventricular tachycardia
CASQ2
Cutis laxa, autosomal recessive/dominant, age-related macular
degeneration 3
Cerebral cavernous malformations
KRIT1
Darier disease
ATP2A2
CCM2
Dent disease
CLCN5
PDCD10
Diamond-Blackfan syndrome
RPS19
ABHD5
DiGeorge syndrome, velo-cardio-facial syndrome
TBX1
CHD7
DiGeorge-like phenocopy
CRKL
ARSE
Dihydropteridine reductase deficiency
QDPR
CHM
Duane-radial ray syndrome
SALL4
Chronic granulomatous disease
CYBA
Dyskeratosis congenita
DKC1
Chronic granulomatous disease
CYBB
Dyskeratosis congenita
TERC
Chronic granulomatous disease
NCF2
Dyskeratosis congenita
TINF2
Citrullinemia type 1
ASS1
Dyskeratosis congenita, aplastic anemia
TERT
Cleidocranial dysplasia
RUNX2
Early infantile epileptic encephalopathy
PNKP
MMACHC
Ectodermal dysplasia, an/hypohidrotic, X-linked
EDA
ERCC8
Ectodermal dysplasia, hypohidrotic, autosomal dominant or recessive
EDAR
Cockayne syndrome B
ERCC6
WNT10A
Coffin-Lowry syndrome
RPS6KA3
Ectodermal dysplasia, odonto-onycho-dermal dysplasia , Schopf-SchulzPassarge syndrome
Cohen syndrome
VPS13B
Ehlers-Danlos syndrome type 4
COL3A1
Combined pituitary hormone deficiency
PROP1
Ellis-van Creveld syndrome
EVC
Combined pituitary hormone deficiency
POU1F1
Epidermolysis bullosa with pyloric atresia
ITGA6
Combined saposin deficiency, saposin A, B & C deficiency
PSAP
Epidermolysis bullosa, dystrophic type
COL7A1
Cone dystrophy, autosomal recessive
KCNV2
Epidermolysis bullosa, junctional type
COL17A1
Cone-rod dystrophy, autosomal dominant
GUCA1A
Epidermolysis bullosa, junctional type
LAMA3
Cone-rod dystrophy, autosomal dominant
CRX
Epidermolysis bullosa, junctional type
LAMB3
Cone-rod dystrophy, autosomal dominant
GUCY2D
Epidermolysis bullosa, junctional type
LAMC2
Cone-rod dystrophy, autosomal dominant
PRPH2
Epidermolysis bullosa, junctional with pyloric atresia, JEB-PA
ITGB4
Cone-rod dystrophy, autosomal recessive
PDE6C
Epidermolysis bullosa, with muscular dystrophy
PLEC1
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase/17,20-lyase
deficiency
CYP17A1
Epilepsy with neurodevelopmental defects
GRIN2A
Escobar syndrome, multiple pterygium syndrome
CHRNG
MPL
Ethylmalonic aciduria
ETHE1
MPI
Fabry disease
GLA
Cerebral cavernous malformations
Cerebral cavernous malformations
Chanarin-Dorfman syndrome, neutral lipid storage disease with ichthyosis
CHARGE syndrome
Chondrodysplasia punctata
Choroideremia
Cobalamin C deficiency
Cockayne syndrome A
Congenital amegakaryocytic thrombocytopenia
Congenital disorder of glycosylation IB
Page 2 of 6
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ExonArrayDx
Gene list for clinical testing
Genes listed individually by disease name
Disorder
Gene
Disorder
Gene
Familial adenomatous polyposis, colon cancer
APC
Hermansky-Pudlak syndrome
HPS1
Familial atrial fibrillation
KCNA5
Hermansky-Pudlak syndrome
HPS3
Familial exudative vitreoretinopathy
FZD4
Hermansky-Pudlak Syndrome
AP3B1
Familial exudative vitreoretinopathy
LRP5
Hirschsprung disease
EDN3
Familial exudative vitreoretinopathy 5
TSPAN12
HMG co-A lyase deficiency
HMGCL
Familial gastric cancer
CDH1
Holocarboxylase synthetase deficiency
HLCS
Familial hypercholesterolemia
LDLR
Holoprosencephaly
SHH
Familial hypocalciuric hypercalcemia, neonatal severe primary
hyperparathyroidism, autosomal dominant hypocalcemia, familial isolated
hypoparathyroidism
CASR
Holoprosencephaly
SIX3
Holoprosencephaly
ZIC2
Fanconi anemia
FANCC
Holt-Oram syndrome
TBX5
Feingold syndrome
MYCN
Homocystinuria-megaloblastic anemia methylcobalamin deficiency, cblE
complementation type
MTRR
Friedreich ataxia
FXN
RDH5
Homocystinuria-megaloblastic anemia, methylcobalamin deficiency, cblG
type
MTR
Fundus albipunctatus
Fundus albipunctatus, Newfoundland rod-cone dystrophy, bothnia retinal
dystrophy
RLBP1
Homocystinuria, cystathionine beta-synthase deficiency
CBS
Hydrocephalus, X-linked, MASA syndrome, CRASH syndrome
L1CAM
Galactokinase deficiency
GALK1
Hydrolethalus syndrome
HYLS1
Galactosemia, galactosyltransferase deficiency
GALT
Hyper IgM syndrome
AICDA
Glanzmann thrombasthenia
ITGB3
Hyper-IgD syndrome
MVK
Glutaric aciduria type I
GCDH
Hyper-IgE recurrent infection syndrome, autosomal recessive
DOCK8
Glutaric aciduria type II, multiple acyl-CoA dehydrogenase deficiency
ETFA
Hyperparathyroidism-jaw tumor syndrome
CDC73
Glutaric aciduria type II, multiple acyl-CoA dehydrogenase deficiency
ETFB
Hypomyelination, global cerebral
SLC25A12
Glutaric aciduria type II, multiple acyl-CoA dehydrogenase deficiency
ETFDH
Hypoparathyroidism, deafness, and renal disease
GATA3
Glutathione synthetase deficiency
GSS
Immunodeficiency due to nucleoside phosphorylase deficiency
PNP
Glycogen storage disease type IV
GBE1
Immunodeficiency with hyper-IgM syndrome, X-linked
CD40LG
Goltz syndrome, focal dermal hypoplasia
PORCN
IRAK4 deficiency
IRAK4
Gorlin syndrome, basal cell nevus syndrome
PTCH1
Isobutyryl-CoA dehydrogenase deficiency
ACAD8
Growth hormone insensitivity syndrome
GHR
Isolated persistent hypermethioninemia
MAT1A
GTP cyclohydrolase 1 deficiency, dopa-responsive dystonia
GCH1
Isovaleric acidemia
IVD
Guanidinoacetate methyltransferase deficiency
GAMT
Jalili syndrome
CNNM4
Hailey-Hailey disease, familial benign chronic pemphigus
ATP2C1
Joubert syndrome
CEP290
Harlequin ichthyosis, lamellar ichthyosis type 2
ABCA12
Joubert syndrome
INPP5E
Hemophilia A
F8
Juvenile polyposis syndrome, infantile form
BMPR1A
Hemophilia B
F9
Juvenile polyposis syndrome, pancreatic cancer
SMAD4
Hereditary angioedema
SERPING1
Kabuki syndrome
MLL2
Hereditary hemorrhagic telangiectasia
ENG
Kallmann syndrome, autosmal dominant
FGFR1
Hereditary hemorrhagic telangiectasia, Osler-Rendu-Weber syndrome
ACVRL1
Kallmann syndrome, X-linked
KAL1
Hereditary inclusion body myopathy, HIBM
GNE
Krabbe disease
GALC
Hereditary leiomyomatosis and renal cell cancer, fumarate hydratase
deficiency
FH
L-arginine: glycine amidinotransferase deficiency
GATM
Hereditary multiple exostoses
EXT1
Lamellar ichthyosis
TGM1
Hereditary multiple exostoses
EXT2
Leber congenital amaurosis, autosomal recessive
CRB1
Hereditary paraganglioma syndrome
SDHAF2
Leber congenital amaurosis, autosomal recessive
RDH12
Hereditary paraganglioma-pheochromocytoma syndrome
SDHB
Leber congenital amaurosis, autosomal recessive
RPGRIP1
Hereditary paraganglioma-pheochromocytoma syndrome
SDHC
Leber congenital amaurosis, autosomal recessive
TULP1
Hereditary paraganglioma-pheochromocytoma syndrome
SDHD
Leber congenital amaurosis, autosomal recessive
SPATA7
Hereditary schwannomatosis, malignant rhabdoid tumor
SMARCB1
Page 3 of 6
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ExonArrayDx
Gene list for clinical testing
Genes listed individually by disease name
Disorder
Gene
Disorder
Gene
Leber congenital amaurosis, autosomal recessive
LCA5
Methylmalonyl-coA epimerase deficiency
MCEE
Leber congenital amaurosis, autosomal recessive
AIPL1
Mitochondrial complex V (ATPase) deficiency, nuclear-encoded
ATPAF2
Left-right determination factor 2
LEFTY2
Mitochondrial trifunctional protein deficiency
HADHB
Legius syndrome
SPRED1
Molybdenum cofactor deficiency
MOCS2
Leri-Weill dyschondrosteosis, short stature
SHOX
Mucolipidosis I
NEU1
Leukocyte adhesion deficiency
ITGB2
Mucolipidosis IV
MCOLN1
Li-Fraumeni syndrome
TP53
IDUA
Li-Fraumeni syndrome
CHEK2
Mucopolysaccharidosis type I, Hurler Syndrome, Hurler-Scheie Syndrome,
Scheie Syndrome
LIG4 syndrome, severe combined immunodeficiency with sensitivity to
ionizing radiation, T cell-negative, B cell-negative, NK cell-positive
LIG4
Mucopolysaccharidosis type IIIA
SGSH
Mucopolysaccharidosis type IIIB
NAGLU
Limb-girdle muscular dystrophy type 2A
CAPN3
Mucopolysaccharidosis type IIIC
HGSNAT
Long QT syndrome
AKAP9
Mucopolysaccharidosis type IIID
GNS
Long QT syndrome
KCNE3
Mucopolysaccharidosis type IVA, Morquio A syndrome
GALNS
Long QT syndrome
KCNH2
Mucopolysaccharidosis type IVB, Morquio B syndrome
GLB1
Long QT syndrome
KCNQ1
Mucopolysaccharidosis type VI
ARSB
Long QT syndrome
SCN4B
Multiple endocrine neoplasia type 1
MEN1
Long QT syndrome
SNTA1
Multiple sulfatase deficiency
SUMF1
Long QT syndrome
SCN5A
Multiple synostoses syndrome
NOG
Long QT syndrome
KCNE1
N-acetylglutamate synthase deficiency
NAGS
Long QT syndrome
KCNE2
Nail-patella syndrome
LMX1B
Long QT syndrome
KCNJ2
Nemaline myopathy
NEB
Long QT syndrome
ANK2
Nephrogenic diabetes insipidus
AVPR2
Long QT syndrome
CACNA1C
Nephronophthisis
NPHP1
Nephronophthisis 2
INVS
Long-chain acyl-CoA dehydrogenase deficiency, mitochondrial trifunctional HADHA
protein deficiency
Nephronophthisis 3, Meckel syndrome 7
NPHP3
Lowe syndrome
OCRL
Nephronophthisis 4, Senior-Loken syndrome 4
NPHP4
Lymphoproliferative syndrome, X-linked
SH2D1A
Nephropathic cystinosis
CTNS
Lysosomal acid lipase deficiency
LIPA
Netherton syndrome, NTS, ichthyosis linearis circumflexa
SPINK5
Malonic aciduria
MLYCD
Neurodevelopmental defects
GRIN2B
Maple syrup urine disease
BCKDHA
Neurofibromatosis type 2
NF2
Maple syrup urine disease
BCKDHB
Neuronal ceroid lipofuscinosis 3
CLN3
Maple syrup urine disease
DBT
Niemann Pick type A and B
SMPD1
Maple syrup urine disease
DLD
Niemann Pick type C
NPC1
Niemann Pick type C
NPC2
Nijmegen breakage syndrome
NBN
Ocular coloboma
GDF6
Oculocutaneous albinism
OCA2
Oguchi disease
GRK1
Optic atrophy
OPA1
Ornithine transcarbamylase deficiency
OTC
Oro-facial-digital syndrome
OFD1
Osteogenesis imperfecta
COL1A2
Osteogenesis imperfecta
COL1A1
Overgrowth syndrome
RNF135
Pendred syndrome, enlarged vestibular aqueduct
SLC26A4
Marfan syndrome, Shprintzen-Goldberg craniosynostosis, Weill-Marchesani FBN1
syndrome
McCune-Albright syndrome, PHP1A, PPHP, POH
GNAS
Medium-chain acyl-CoA dehydrogenase deficiency, MCAD
ACADM
Metachondromatosis
PTPN11
Metaphyseal chondrodysplasia
COL10A1
Methylmalonic acidemia, cbl A type
MMAA
Methylmalonic acidemia, cbl B type
MMAB
Methylmalonic acidemia, mutase deficiency
MUT
Methylmalonic aciduria
MMADHC
Methylmalonic aciduria and homocystinuria, methylcobalamin deficiency,
cblF type
LMBRD1
Methylmalonic aciduria due to transcobalamin receptor defect
CD320
Page 4 of 6
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Gaithersburg, MD 20877
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ExonArrayDx
Gene list for clinical testing
Genes listed individually by disease name
Disorder
Gene
Disorder
Gene
Peters-plus syndrome
B3GALTL
Retinitis pigmentosa, X-linked
RP2
Peutz-Jeghers syndrome
STK11
Retinitis pigmentosa, X-linked
RPGR
Phenylketonuria
PAH
Retinoblastoma
RB1
Pituitary dwarfism
LHX3
Retinoschisis, X-linked
RS1
Pituitary dwarfism type 1, short stature
GH1
Rett syndrome
MECP2
Pompe disease, glycogen storage disease type II
GAA
Rickets, hypophosphatemic with hypercalciuria, autosomal recessive
SLC34A3
Preaxial polydactyly (ZRS of SHH)
LMBR1
ENPP1
Primary carnitine deficiency, carnitine uptake defect
SLC22A5
Rickets, hypophosphatemic 2, arterial calcification of infancy, autosomal
recessive
Primary congenital glaucoma
CYP1B1
Rickets, hypophosphatemic, autosomal recessive
DMP1
Primary open angle glaucoma
MYOC
Rickets, hypophosphatemic, X-linked
PHEX
Primary open angle glaucoma
OPTN
Roberts syndrome
ESCO2
Propionic acidemia
PCCA
Rothmund-Thomsen syndrome
RECQL4
Propionic acidemia
PCCB
Rubenstein-Taybi syndrome
CREBBP
CYP27B1
Rubinstein-Taybi syndrome 2
EP300
COMP
Saethre-Chotzen syndrome
TWIST1
STX16
Septo-optic dysplasia, optic nerve hypopasia
HESX1
ABCA3
Sever combined immune deficiency
ADA
FAM20C
Severe combined immune deficiency
IL7R
FHIT
Severe combined immune deficiency
JAK3
PAX2
Severe combined immune deficiency, Omenn syndrome
DCLRE1C
HNF1B
Severe combined immune deficiency, Omenn syndrome
RAG1
ACE
Severe combined immune deficiency, Omenn syndrome
RAG2
AK2
Severe combined immune deficiency due to selective T cell defect
ZAP70
Retinitis pigmentosa
FSCN2
NHEJ1
Retinitis pigmentosa
GUCA1B
Severe combined immune deficiency with microcephaly, growth
retardation, and sensitivity to ionizing radiation
Retinitis pigmentosa
KLHL7
Severe combined immune deficiency, T cell-negative, B cell-positive, NK
cell-positive
PTPRC
Retinitis pigmentosa
MERTK
PROM1
Severe combined immunodeficiency, T cell-negative, B cell-positive, NK
cell-positive
CD3D
Retinitis pigmentosa
Retinitis pigmentosa, ADC
CA4
CD3E
Retinitis pigmentosa, autosomal recessive
CERKL
Severe combined immune deficiency, T cell-negative, B cell-positive, NK
cell-positive
Retinitis pigmentosa, autosomal dominant
NR2E3
CD247
Retinitis pigmentosa, autosomal dominant
PRPF31
Severe combined immune deficiency, T-cell negative, B-cell positive, NK
cell-positive, SCID
Retinitis pigmentosa, autosomal dominant
PRPF8
Severe combined immunodeficiency, X-linked
IL2RG
Retinitis pigmentosa, autosomal dominant
RP1
Severe congenital neutropenia, autosomalrecessive, Kostman disease
HAX1
Retinitis pigmentosa, autosomal dominant
PRPF3
Short branched chain acyl-CoA dehydrogenase deficiency, SBCAD
ACADSB
Retinitis pigmentosa, autosomal dominant
RHO
Short stature, pituitary and cerebellar defects, small sella turcica
LHX4
Retinitis pigmentosa, autosomal recessive
ROM1
Short-chain acyl-CoA dehydrogenase deficiency, SCAD
ACADS
Retinitis pigmentosa, autosomal recessive
NRL
Simpson-Golabi-Behmel syndrome
GPC4
Retinitis pigmentosa, autosomal recessive
IDH3B
Simpson-Golabi-Behmel syndrome
GPC3
Retinitis pigmentosa, autosomal recessive
PDE6A
Sjogren-Larsson syndrome, SLS
ALDH3A2
Retinitis pigmentosa, autosomal recessive
PDE6B
Smith-Lemli-Opitz syndrome
DHCR7
Retinitis pigmentosa, autosomal recessive
RPE65
Smith-Magenis syndrome
RAI1
Retinitis pigmentosa, autosomal recessive
USH2A
Sotos syndrome
NSD1
Retinitis pigmentosa, autosomal recessive
CNGA1
Spinal muscular atrophy with respiratory distress type 1, SMARD1
IGHMBP2
Retinitis pigmentosa, autosomal recessive
EYS
Pseudo-vitamin D deficiency rickets, autosomal recessive
Pseudoachondroplasia, multiple epiphyseal dysplasia
Pseudohypoparathyroidism type IB
Pulmonary surfactant metabolism dysfunction, pulmonary, 3
Raine syndrome
Renal cell carcinoma
Renal coloboma syndrome
Renal cysts and diabetes syndrome
Renal tubular dysgenesis
Reticular dysgenesis
Page 5 of 6
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ExonArrayDx
Gene list for clinical testing
Genes listed individually by disease name
Disorder
Gene
Disorder
Gene
Spondyloepiphyseal dysplasia tarda, X-linked
TRAPPC2
X-linked mental retardation, JARID1C-related
KDM5C
Stargardt disease, retinitis pigmentosa, cone rod dystrophy, autosomal
recessive
ABCA4
X-linked mental retardation, Stocco dos Santos syndrome
SHROOM4
X-linked mental retardation, syndromic, Turner type
HUWE1
Stargardt-like macular dystrophy, autosomal dominant
ELOVL4
Xeroderma pigmentosum
XPC
Steroid sulfatase deficiency, X-linked Ichthyosis
STS
Stickler syndrome, Kniest dysplasia, spondyloepiphyseal dysplasia and
related disorders
COL2A1
Synpolydactyly
HOXD13
Tay-Sachs disease, hexosaminidase A deficiency
HEXA
Tetralogy of Fallot
ZFPM2
Thoracic aortic aneuryms and dissections
ACTA2
Torsion dystonia
THAP1
Townes-Brock syndrome
SALL1
Treacher-Collins syndrome
TCOF1
Trichorhinophalangeal syndrome
TRPS1
Triple-A syndrome, Allgrove syndrome, achalasia-addisonianism-alacrima
AAAS
Tyrosine hydroxylase deficiency, autosomal recessive infantile
Parkinsonism
TH
Tyrosinemia type I
FAH
Tyrosinemia type II
TAT
Tyrosinemia type III
HPD
Ulnar-mammary syndrome
TBX3
Usher syndrome, type IB, deafness, autosomal recessive 2
MYO7A
Usher syndrome, type IC
USH1C
Usher syndrome, type ID, deafness, autosomal recessive 12
CDH23
Usher syndrome, type IF
PCDH15
Usher syndrome, type IG
USH1G
Usher syndrome, type IIC
GPR98
Usher syndrome, type IID
DFNB31
Usher syndrome, type III
CLRN1
Van der Woude syndrome, popliteal pterygium syndrome
IRF6
Very long-chain acyl-CoA dehydrogenase deficiency, VLCAD
ACADVL
Vitamin D-dependent rickets, type 2A
VDR
Von Hippel-Lindau syndrome
VHL
Waardenburg syndrome type I, III
PAX3
Waardenburg syndrome type IIA
MITF
Waardenburg syndrome type IIE
SOX10
WAGR, Denys-Drash syndrome, Frasier syndrome
WT1
Werner syndrome
WRN
Williams-Beuren syndrome
MAGI2
Williams-Beuren syndrome, cutis laxa
ELN
Wiskott-Aldrich syndrome
WAS
Wolfram syndrome 1, diabetes insipidus and mellitus with optic atrophy
and deafness
WFS1
X-linked mental retardation
GDI1
X-linked mental retardation
MAGT1
X-linked mental retardation 94
GRIA3
Page 6 of 6
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