Genes for which GeneDx offers tests

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

For details, click on a disease.

NEW: ExonArrayDx, a custom-developed test to detect deletions or duplications of one or more exons of a gene, is now available for >400 genes, including many genes sequenced at GeneDx, marked by in the list below. For all genes for which ExonArrayDx is available, see here. Molecular testing for many disorders, which are frequently caused by partial or full gene deletions, now includes concurrent gene sequencing and ExonArrayDx, ensuring highest test sensitivity. ExonArrayDx testing is performed for most autosomal recessive inherited metabolic disorders at no additional cost if sequencing at GeneDx identifies a mutation in only one allele. ExonArrayDx analysis is available for deletion/duplication testing in inherited cardiac and eye disorders.

• AAAS
  Triple-A syndrome (Allgrove syndrome, Achalasia-Addisonianism-Alacrima)
  
  
• ABCA12
  Harlequin ichthyosis (HI), Lamellar ichthyosis, type 2 (LI-2)
  
  
• ABCA4
  Stargardt Disease Autosomal Recessive Retinitis Pigmentosa Cone Rod Dystrophy
  
  
• ABCC6
  Pseudoxanthoma Elasticum (PXE)
  
  
• ABHD5 (CGI-58)
  Chanarin-Dorfman syndrome (Neutral lipid storage disease with ichthyosis, NLSD)
  
  
• ACAD8
  Isobutyryl-CoA Dehydrogenase Deficiency
  
  
• ACADM
  Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
  
  
• ACADS
  Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
  
  
• ACADSB
  Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency
  
  
• ACADVL
  Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
  
  
• ACAT1
  ß-Ketothiolase Deficiency
  
  
• ACTA1
  Nemaline myopathy
  
  
• ACTC
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• ADA
  ADA Severe Combined Immunodeficiency, Autosomal Recessive (ADA SCID), Adenosine Deaminase Deficiency
  
  
• AICDA
  Immunodeficiency Syndrome with Hyper IgM, Type 2
  
  
• AIPL1
  Autosomal Recessive Leber Congenital Amaurosis Cone Rod Dystrophy
  
  
• AIRE
  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED), Autoimmune Polyglandular Syndrome
  
  
• AKAP9
  Long QT Syndrome ^NEW!
  
  
• ALDH3A2 (ALDH10; FALDH)
  Sjögren-Larsson syndrome (SLS)
  
  
• ALOX12B
  Congenital recessive ichthyosis (erythrodermic type; Non-bullous congenital ichthyosiform erthroderma; NBCIE), Collodion baby
  
  
• ALOXE3
  Congenital recessive ichthyosis (erythrodermic type; Non-bullous congenital ichthyosiform erthroderma; NBCIE), Collodion baby
  
  
• ANK2
  Long QT syndrome ^{NEW: EADx Available!}
  
  
• AR
  Androgen insensitivity syndrome, Testicular feminization syndrome
  
  
• ARG1
  Arginase Deficiency ^NEW!
  
  
• ARSB
  Maroteaux-Lamy Syndrome or Mucopolysaccharidosis VI (MPSVI) ^NEW
  
  
• ARSA
  Metachromatic Leukodystrophy ^NEW!
  
  
• ARSE
  X-linked recessive chondrodysplasia punctata ^{NEW: Includes Deletion Testing!}
  
  
• ASL
  Argininosuccinic Aciduria ^NEW!
  
  
• ASPA
  Canavan Disease ^NEW!
  
  
• ASS1
  Classic Citrullinemia
  
  
• ATP2A2
  Darier disease (DD)
  
  
• ATP2C1
  Hailey-Hailey disease (HHD; familial benign chronic pemphigus)
  
  
• AUH
  3-Methylglutaconic Aciduria Type I ^NEW!
  
  
• AutismDx: Diagnostic Autism Panels (PTEN, MECP2, CDKL5,
  GenomeDx microarray)
  Non-syndromic Autism, Autism spectrum disorders
  
  

• BCKDHA
  Maple Syrup Urine Disease ^NEW!
  
  
• BCKDHB
  Maple Syrup Urine Disease ^NEW!
  
  
• BCOR
OculoFacioCardioDental Syndrome (OFCD) / Lenz Microphthalmia Syndrome (LMS)


• BCS1L
  Gracile syndrome, Leigh syndrome, Mitochondrial complex III deficiency, Bjornstad syndrome
  
  
• BEST1

Best vitelliform macular dystrophy (Best disease), Bestrophinopathy, autosomal recessive, Vitreoretinochoroidopathy, autosomal dominant, Foveomacular vitelliform dystrophy, adult-onset
Retinitis pigmentos, autosomal dominant


• BLM
Bloom Syndrome


• BMPR1A
  Juvenile Polyposis Syndrome (JPS) ^NEW!
  
  
  
  
• BRAF
  Cardio-facio-cutaneous (CFC) syndrome ^{NEW: Expanded 11 gene panel!}
  
  
• BTD
  Biotinidase Deficiency
  
  
• BTK
  X-linked Agammaglobulinemia (Bruton type agammaglobulinemia) ^{NEW: Includes Deletion Testing!}
  
  

• C1INH (SERPING)
  Hereditary angioedema ^{NEW: Includes Deletion Testing!}
  
  
• C10ORF2 (TWINKLE/PEO1)
  Autosomal dominant progressive external ophthalmoplegia with mtDNA deletions-3 (adPEO3); Mitochondrial DNA depletion syndrome, hepatocerebral form; Sensory ataxic neuropathy, dysarthria, and opthalmoparesis (SANDO); Infantile onset spinocerebellar ataxia
  
  
• CACNA1C, CAV3
  Long QT syndrome ^{NEW: EADx Available!}
  
  
• CASP10, CASP8
  Autoimmune Lymphoproliferative Syndrome (ALPS) Type IIA and IIB
  
  
• CASR
  Familial hypocalciuric hypercalcemia, Neonatal severe primary hyperparathyroidism; Hypocalcemia (autosomal dominant), Familial isolated hypoparathyroidism
  
  
• CAV3
  Hypertrophic Cardiomyopathy
  
  
• CBL
  Noonan Syndrome ^{NEW: Expanded 11 gene panel!}
  
  
• CBS
  Homocystinuria due to Cystathionine β-Synthase Deficiency
  
  
• CCM2
  Cerebral Cavernous Malformation (CCM) ^NEW!
  
  
• CDK4
  Familial cutaneous malignant melanoma (FAMMM, Familial multiple mole and melanoma syndrome)
  
  
• CDKL5 (STK9)
  Rett syndrome, Atypical Rett syndrome, Non-syndromic Autism, X-linked infantile spasm syndrome-2
  
  
• CDKN2A
  Familial cutaneous malignant melanoma (FAMMM, Familial multiple mole and melanoma syndrome)
  
  
• CERKL
  Autosomal Recessive Retinitis Pigmentosa
  Cone-Rod Dystrophy, Autosomal Recessive
  
  
• CHD7
  CHARGE Syndrome
  
  
• CHM
  Choroideremia
  
  
• CEP290
  Autosomal Recessive Leber Congenital Amaurosis
  
  
• CIAS1
  Muckle-Wells syndrome, Familial cold urticaria syndrome, NOMID/CINCA Syndrome
  
  
• CLCN5
  Dent disease, X-linked nephrolithiasis
  
  
• CNGA1
  Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa ^NEW!
  
  
• CNGA3
  Achromatopsia^NEW!
  Cone Rod Dystrophy
  
  
• CNGB3
  Achromatopsia^NEW!
  Cone Rod Dystrophy
  
  
• COH1
  Cohen syndrome
  
  
• COL17A1
  Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB)
  
  
• COL4A5
  Alport Syndrome
  
  
• COL7A1
  Epidermolysis bullosa, dystrophic type (Dystrophic epidermolysis bullosa; DEB)
  
  
• COMP
  Multiple epiphyseal dysplasia (MED), Pseudoachondroplasia (PSACH)
  
  
• COQ2
  Coenzyme Q10 deficiency with encephalomyopathy and/or nephropathy
  
  
• COX10
  Mitochondrial complex IV deficiency; Leigh syndrome; Progressive mitochondrial encephalopathy with proximal renal tubulopathy
  
  
• COX15
  Mitochondrial complex IV deficiency; Leigh syndrome; Early-onset fatal hypertrophic cardiomyopathy
  
  
• COX6B1
  Mitochondrial complex IV deficiency
  
  
• CPT1A
  Carnitine Palmitoyltransferase IA Deficiency ^NEW!
  
  
• CPT2
  Carnitine Palmitoyltransferase II (CPT2) Deficiency
  
  
• CRB1
  Autosomal Recessive Leber Congenital Amaurosis, Autosomal Recessive Retinitis Pigmentosa
  
  
• CRB1
  Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
  
  
• CREBBP (CREB-binding protein)
  Rubinstein-Taybi syndrome ^{NEW: Includes Deletion Testing!}
  
  
• CRX
  Autosomal Dominant Leber Congenital Amaurosis, Autosomal Dominant Retinitis Pigmentosa, Cone Rod Dystrophy
  
  
• CYBA
  Chronic granulomatous disease (autosomal recessive)
  
  
• CYBB
  Chronic granulomatous disease (X-linked)
  
  
• CYP1B1
  Primary congenital glaucoma, primary open angle glaucoma, juvenile open glaucoma
  
  
• CYP17A1
  17α,-hydroxylase/17,20-lyase Deficiency ^NEW!
  
  
• CYP19A1
  Aromatase Deficiency, Pseudohermaphroditism
  
  
• CYP27B1
  Hypophosphatemic rickets (autosomal dominant); Pseudo-vitamin D deficiency rickets (autosomal recessive)
  
  

• DBT
  Maple Syrup Urine Disease ^NEW!
  
  
• DCLRE1C (ARTEMIS)
  Severe combined immunodeficiency (autosomal recessive), Omenn syndrome ^{NEW: Includes Deletion Testing!}
  
  
• DGUOK
  Mitochondrial DNA depletion syndrome, hepatocerebral form
  
  
• DHCR7
  Smith-Lemli-Opitz syndrome
  
  
• DHH
  46,XY Disorder of Sex Development ^NEW!
  
  
• DKC1
  Dyskeratosis congenita (DKC)
  
  
• DLD
  Maple Syrup Urine Disease ^NEW!
  Mitochondrial complex IV deficiency
  
  
• DMP1
  Autosomal Recessive Hypophosphatemic Rickets (ARHR)
  
  
• DOCK8
  Hyper-IgE Recurrent Infection Syndrome; Job's Syndrome; HIES
  
  

• EDA1
  Hypo-/Anhidrotic ectodermal dysplasia (X-linked)
  
  
• EDAR
  Hypohidrotic ectodermal dysplasia (autosomal recessive); Hypohidrotic ectodermal dypslasia (autosomal dominant)
  
  
• EFNB1
  Craniofrontonasal syndrome (CFNS)
  
  
• ELANE (ELA2)
  Severe congenital neutropenia,
  Cyclic neutropenia ^{NEW 7 Gene Panel!}
  
  
• ELN
  Supravalvular Aortic Stenosis, Autosomal Dominant Cutis Laxa and Williams-Beuren syndrome
  
  
• ELOVL4
  Autosomal Dominant Stargardt-Like Macular Dystrophy ^NEW
  
  
• ETHE1
  Ethylmalonic Encephalopathy
  
  
• ETFA, ETFB and ETFDH
  Glutaric Aciduria II (GAII)/ Multiple Acyl-Coa Dehydrogenase Deficiency (MADD)
  
  
• EXT1
  Hereditary multiple exostoses (HME) ^{NEW: Includes Deletion Testing!}
  
  
• EXT2
  Hereditary multiple exostoses (HME) ^{NEW: Includes Deletion Testing!}
  
  
• EYA1
  Branchiootorenal Syndrome, Branchiootic Syndrome
  
  
• EYS
  Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
  
  

• F12
  Hereditary angioedema ^{NEW: Includes Deletion Testing!}
  
  
• FAH
  Tyrosinemia Type I
  
  
• FBN1
  Marfan syndrome, Loeys-Dietz syndrome and Related Disorders
  
  
• FGF23
  Hypophosphatemic rickets (autosomal dominant); Pseudo-vitamin D deficiency rickets (autosomal recessive)
  
  
• FGFR1
  Kallmann Syndrome
  
  
• FLCN (BHD)
  Birt-Hogg-Dube syndrome; Primary spontaneous pneumothorax
  
  
• FH (fumarate hydratase; fumarase)
  Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
  
  
• FLG (Profilaggrin)
  Ichthyosis vulgaris (IV), with or without associated atopic dermatitis
  
  
• FMR1
  Fragile X Syndrome, Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS), Premature Ovarian Failure (FMR1-Associated) ^NEW
  
  
• FOXC1
  Axenfeld-Rieger Syndrome, Rieger Syndrome
  
  
• FRMD7
  X-Linked Congenital Nystagmus ^NEW
  
  
• FZD4
  Familial Exudative Vitreoretinopathy (FEVR)
  
  

• GAA
  Pompe Disease or Glycogen Storage Disease Type II (GSDII)
  
  
• GALC
  Krabbe Disease ^NEW!
  
  
• GALK1
  Galactokinase Deficiency ^NEW!
  
  
• GALT
  Galactosemia
  
  
• GCDH
  Glutaric aciduria Type I (GA1)
  
  
• GCH1
  Dopa-responsive dystonia
  
  
• GFAP
  Alexander Disease
  
  
• GJB2 (Cx26)
  Keratitis-ichthyosis-deafness syndrome (KID Syndrome),
  Vohwinkel syndrome
  
  
• GJB3 (Cx31)
  Erythrokeratodermia variabilis
  
  
• GJB4 (Cx30.3)
  Erythrokeratodermia variabilis
  
  
• GJB6 (Cx30)
  Hidrotic ectodermal dysplasia (Clouston syndrome)
  
  
• GK
  Glycerol Kinase Deficiency ^NEW!
  
  
• GLA
  Fabry disease
  Hypertrophic Cardiomyopathy
  
  
• GLI3
  Greig cephalopolysyndactyly syndrome (GCPS) ^NEW!
  Pallister Hall syndrome (PHS) ^NEW!
  
  
• GNE
  Inclusion body myopathy, hereditary (HIBM)
  
  
• GPC3
  Simpson-Golabi-Behmel syndrome ^NEW!
  
  GUCA1A
  Cone-Rod Dystrophy ^NEW!
  
  
• GUCY2D
  Autosomal Recessive Leber Congenital Amaurosis Con Rod Dystrophy
  
  

• HADH
  3-Hydroxyacyl-CoA Dehydrogenase (HADH) Deficiency/ Familial Hyperinsulinemic Hypoglycemia^NEW!
  
  
• HADHA, HADHB
  Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Deficiency / Mitochondrial Trifunctional Protein (MTP) Deficiency
  
  
• HAX1
  Congenital Neutropenia, recessive
  
  
• HESX1
  Septo-Optic Dysplasia ^NEW
  
  
• HEXA
  Tay-Sachs Disease^NEW!
  
  
• HLCS
  Holocarboxylase Synthetase Deficiency / Multiple Carboxylase Deficiency
  
  
• HMGCL
  HMG CoA Lyase Deficiency (3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency)
  
  
• HOXD13
  Brachydactyly, Syndactyly^NEW!
  
  
• HPD
  Tyrosinemia Type III and Hawkinsinuria^NEW!
  
  
• HPS1
  Hermansky-Pudlak syndrome
  
  
• HPS3
  Hermansky-Pudlak syndrome
  
  
• HRAS
  Costello syndrome (Facio-cutaneo-skeletal syndrome; FCS syndrome) ^{NEW: Expanded 11 gene panel!}
  
  
• HRPT2
  Hyperparathyroidism-jaw tumor syndrome (HPT-JT), Parathyroid carcinoma; Familial isolated hyperparathyroidism (FIHP)
  
  
• HSD17B10
  2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency / Hydroxysteroid (17β) Dehydrogenase 10 Deficiency^NEW!
  
  
• hTR (TERC)
  Dyskeratosis congenita, autosomal dominant (DKC)
  
  

• ICHTHYIN
  Congenital recessive ichthyosis (erythrodermic type; Non-bullous congenital ichthyosiform erthroderma; NBCIE), Collodion baby
  
  
• IGHMBP2
  Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
  
  
• IKBKG (NEMO)
  Incontinentia Pigmenti
  Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
  
  
• IL2RG
  X-linked Severe Combined Immunodeficiency (SCID) ^NEW!
  
  
• IL7R
  IL7R Severe Combined Immunodeficiency, Autosomal
  Recessive (IL7R SCID)
  
  
• IMPDH1
  Autosomal Dominant Leber Congenital Amaurosis, Autosomal Dominant Retinitis Pigmentosa
  
  
• IRAK4
  IRAK4 Deficiency; Predisposition to Pyogenic Infections; Invasive Pneumococcal Disease
  
  
• IRF6
  Van der Woude syndrome, Popliteal pterygium syndrome
  
  
• ITGB2 (LAD; CD18)
  Leukocyte adhesion deficiency
  
  
• ITGB4, ITGA6
  Epidermolysis bullosa, junctional with pyloric atresia (JEB-PA)
  
  
• IVD
  Isovaleric Acidemia
  
  

• JAG1
  Alagille syndrome ^{NEW: Includes Deletion Testing!}
  
  
• JAK3
  Severe Combined Immunodeficiency; Autosomal Recessive
  
  

• KAL1
  Kallmann Syndrome
  
  
• KCNE3
  Brugada Syndrome ^NEW
  
  
• KCNQ1, KCNH2, KCNE1, KCNE2, KCNJ2
  Long QT syndrome ^{NEW: EADx Available!}
  
  
• KRAS
  Noonan syndrome, Cardio-Facio-Cutaneous (CFC) Syndrome ^{NEW: Expanded 11 gene panel!}
  Noonan Syndrome - Prenatal Testing based on ultrasound findings
  
  
• KRIT1
  Cerebral Cavernous Malformation (CCM) ^NEW!
  
  
• KRT1 (K1)
  Epidermolytic hyperkeratosis (EHK; Bullous ichthyosiform erythroderma);
  Non-epidermolytic palmoplantar keratoderma (Unna-Thost)
  
  
• KRT2e (K2e)
  Ichthyosis bullosa of Siemens
  
  
• KRT4 (K4)
  White sponge nevus
  
  
• KRT5 (K5)
  Epidermolysis bullosa simplex (EBS) - Dowling-Meara type, Koebner type, Weber-Cockayne type
  
  
• KRT6A
  Pachyonychia congenita, type I
  
  
• KRT6B
  Pachyonychia congenita, type II
  
  
• KRT9
  Epidermolytic palmoplantar keratoderma (EPPK, Vörner type)
  
  
• KRT10
  Epidermolytic hyperkeratosis (EHK; Bullous ichthyosiform erythroderma)
  
  
• KRT13
  White sponge nevus
  
  
• KRT14
  Epidermolysis bullosa simplex (EBS) - Dowling-Meara type, Koebner type, Weber-Cockayne type
  
  
• KRT16
  Pachyonychia congenita, type I
  Non-epidermolytic palmoplantar keratoderma (Unna-Thost)
  
  
• KRT17
  Pachyonychia congenita, type II; Steatocystoma multiplex
  
  

• L1CAM
  X-linked Hydrocephalus/Congenital stenosis of the aqueduct of Sylvius, MASA Syndrome; X-linked spastic paraplegia type 1, CRASH syndrome ^{NEW: Includes Deletion Testing!}
  
  
• LAMA3
  Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB) - Herlitz type, Non-Herlitz type
  
  
• LAMB3
  Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB) - Herlitz type, Non-Herlitz type
  
  
• LAMC2
  Epidermolysis bullosa, junctional type (Junctional epidermolysis bullosa; JEB) - Herlitz type, Non-Herlitz type
  
  
• LAMP2
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Danon Disease
  
  
• LMBR1 (ZRS)
  Zone of Polarizing Activity Regulatory Sequence (ZRS) in LMBR1 ^NEW
  
  
• LPIN2
  Majeed syndrome ^{NEW 7 Gene Panel!}
• LRP5
  Familial Exudative Vitreoretinopathy (FEVR)
  Familial Exudative Vitreoretinopathy, Osteoporosis-Pseudoglioma syndrome, Osteopetrosis type 1, autosomal dominant, Van Buchem disease type 2, Hyperostosis corticalis generalisata, benign form of worth with torus palatinus
  
  

• MAP2K1
  Cardiofaciocutaneous syndrome ^{NEW: Expanded 11 gene panel!}
  
  
• MAP2K2
  Cardiofaciocutaneous syndrome ^{NEW: Expanded 11 gene panel!}
  
  
• MAT1A
  Methionine Adenosyltransferase I/III Deficiency ^NEW!
  
  
• MCCC1, MCCC2
  3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency
  
  
• MCOLN1
  Mucolipidosis type IV
  
  
• MECP2
  Rett syndrome, Atypical Rett syndrome, Non-syndromic Autism, X-linked infantile spasm syndrome-2
  
  
• MEFV (FMF)
  Familial Mediterranean fever (FMF) ^{NEW 7 Gene Panel!}
  
  
• MEN1
  Multiple endocrine neoplasia type 1, Wermer syndrome
  
  
• MLYCD
  Malonyl-CoA Decarboxylase Deficiency
  
  
• MMAA, MMAB
  Methylmalonic Acidemia
  
  
• MMACHC
  Methylmalonic Aciduria and Homocystinuria, Cobalamin C (cblC) Type
  
  
• MPL
  Congenital amegakaryocytic thrombocytopenia
  
  
• MPV17
  Mitochondrial DNA depletion syndrome, hepatocerebral form
  
  
• MTTK
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• MTTI
  Hypertrophic Cardiomyopathy
  
  
• MTTG
  Hypertrophic Cardiomyopathy
  
  
• MUT
  Methylmalonic Acidemia
  
  
• MVK
  Hyper-IgD syndrome (HIDS) ^{NEW 7 Gene Panel!}
  
  
• MYBPC3
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• MYCN
  Feingold syndrome
  
  
• MYH7
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• MYL2
  Hypertrophic Cardiomyopathy
  
  
• MYL3
  Hypertrophic Cardiomyopathy
  
  
• MYOC
  Primary open angle glaucoma, juvenile open glaucoma
  
  

• NAGS
  N-Acetylglutamate Synthase (NAGS) Deficiency ^NEW
  
  
• NCF1 (CGD)
  Chronic granulomatous disease (autosomal recessive)
  
  
• NCF2 (CGD)
  Chronic granulomatous disease (autosomal recessive)
  
  
• NDP
  Norrie Disease ^NEW!
  Familial Exudative Vitreoretinopathy (FEVR)
  
  
• NEB
  Nemaline myopathy
  
  
• NLRP3 (aka CIAS1)
  Muckle-Wells Syndrome (MWS), Familial Cold Autoinflammatory Syndrome (FCAS), Neonatal Onset Multisystem Inflammatory Disease (NOMID) ^{NEW 7 Gene Panel!}
• NPC1, NPC2 (HE1, Epididymal Secretory Protein)
  Niemann-Pick Disease, Type C
  
  
• NPD-A, NPD-B
  Niemann-Pick Disease, Types A and B
  
  
• NSD1
  Sotos syndrome ^NEW
  
  
• NR5A1
  46,XY Disorder of Sex Development (NR5A1/SF-1-related) ^NEW
  
  
• NRAS
  Noonan syndrome ^{NEW: Expanded 11 gene panel!}
  
  
• NTRK1
  Congenital insensitivity to pain with anhidrosis (CIPA)
  
  
• NROB1 (DAX1)
  Adrenal hypoplasia congenita (AHC), 46,XY disorder of sex development (NROB1-related) ^NEW!
  
  
• NYX
  X-Linked Congenital Stationary Night Blindness ^NEW
  
  

• OCRL
  Lowe Syndrome
  
  
• OFD1 (Cxorf5)
  Oral-Facial-Digital syndrome Type 1
  
  
• OPA1
  Autosomal dominant optic atrophy, type 1 (OPA1); Autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions (adPEO)
  Optic Atrophy Type 1
  
  
• OPTN
  Primary open angle glaucoma
  
  
• OTC
  Ornithine Transcarbamylase (OTC) Deficiency
^{NEW: Includes Deletion Testing in Females}


• OTX2
  Anophthalmia, Microphthalmia
  
  

• PAH
  Phenylketonuria (PKU)
  
  
• PAX2
  Renal-Coloboma Syndrome, Papillorenal Syndrome ^NEW!
  
  
• PAX6
  Aniridia, Anophthalmia, Microphthalmia, Developmental eye disease
  
  
• PC
  Pyruvate Carboxylase Deficiency ^NEW!
  
  
• PCCA, PCCB
  Propionic Acidemia
  
  
• PDCD10
  Cerebral Cavernous Malformation (CCM) ^NEW!
  
  
• PDE6A, PDE6B
  Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
  
  
• PDHA1
  Pyruvate dehydrogenase E1-Alpha Deficiency; X-linked Leigh syndrome
  
  
• PDHB
  Pyruvate Dehydrogenase E1-Beta Deficiency ^NEW!
  
  
• PHEX
  Hypophosphatemic rickets (X-linked form) ^{NEW: Includes Deletion Testing!}
  
  
• PITX2
  Axenfeld-Rieger Syndrome, Rieger Syndrome
  
  
• PLEC1
  Epidermolysis bullosa, Junctional with Muscular Dystrophy
  
  
• POLG
  Progressive external ophthalmoplegia with mtDNA deletions: autosomal dominant 1 (adPEO1) or recessive (arPEO); Alpers syndrome; Spinocerebellar ataxia neuropathy, dysarthria, and ophthalmoparesis (SANDO); Mitochondrial DNA depletion syndrome
  
  
• POLG2
  Progressive external ophthalmoplegia with mtDNA deletions, autosomal dominant 4 (adPEO4)
  
  
• POR
  Antley-Bixler Syndrome (ABS), POR Deficiency
  
  
• PORCN
  Focal Dermal Hypoplasia (FDH) / Goltz Syndrome ^{NEW: Includes Deletion Testing!}
  
  
• PRPF3, PRPF31, PRPF8, PRPH2
  Autosomal Dominant Retinitis Pigmentosa (adRP)
  
  
• PRKAG2
  Hypertrophic Cardiomyopathy, Wolff-Parkinson-White (WPW) Syndrome
  
  
• PRKAR1A
  Carney complex
• PSAP
  Combined Saposin Deficiency ^NEW!
  Saposin A Deficiency ^NEW!
  Saposin B Deficiency ^NEW!
  Saposin C Deficiency ^NEW!
  
  
• PSTPIP1
  Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome ^{NEW 7 Gene Panel!}
  
  
• PTCH
  Gorlin Syndrome (Basal cell nevus syndrome, Nevoid basal cell carcinoma syndrome) ^{NEW: Includes Deletion Testing!}
  
  
• PTEN
  PTEN Hamartoma Tumor syndrome (PHTS), including Cowden syndrome (CS) Bannayan-Riley-Ruvalcaba syndrome (BRRS) Proteus syndrome (PS) / Proteus-like syndrome ^{NEW: Includes Deletion Testing!}
  AutismDx: Diagnostic Autism Panels 1 and 2
  Autism/Macrocephaly
  
  
• PTPN11
  Metachondromatosis (MC) ^NEW!
  Noonan syndrome, LEOPARD syndrome ^{NEW: Expanded 11 gene panel!}
  Noonan Syndrome - Prenatal Testing based on ultrasound findings
  
  
• PTS
  6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
  
  
• PUS1
  Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA) ^NEW!
  

• QDPR
  Dihydropteridine Reductase (DHPR) Deficiency
  

• RAG1 and RAG2
  Severe combined immunodeficiency (autosomal recessive), Omenn syndrome
  
  
• RAF1
  Noonan syndrome, LEOPARD Syndrome ^{NEW: Expanded 11 gene panel!}
  Noonan Syndrome - Prenatal Testing based on ultrasound findings
  
  
• RAI1
  Smith-Magenis syndrome ^{NEW: Includes Deletion Testing!}
  
  
• RAX
  Anophthalmia, Microphthalmia
  
  
• RDH5
  Fundus Albipunctatus ^NEW!
  Congenital Stationary Night Blindness
  
  
• RDS
  Autosomal Dominant Retinitis Pigmentosa (adRP) Cone Rod Dystrophy Macular Dystrophies
  
  
• RET
  Multiple endocrine neoplasia type 2A (MEN2A); Familial medullary thyroid carcinoma (FMTC)
  Multiple Endocrine Neoplasia type 2B
  Hirschsprung disease (HSCR)
  
  
• RHO
  Autosomal Dominant Retinitis Pigmentosa (adRP)
  Congenital Stationary Night Blindness
  
  
• RLBP1
  Retinitis Punctata Albescens, Fundus Albipunctatus, Newfoundland Rod-Cone Dystrophy, Bothnia Retinal Dystrophy ^NEW!
  
  
• RP1
  Autosomal Dominant Retinitis Pigmentosa (adRP)
  
  
• RP2
  X-linked Retinitis Pigmentosa
  
  
• RPE65
  Autosomal Recessive Leber Congenital Amaurosis, Autosomal Recessive Retinitis Pigmentosa
  
  
• RPGRIP1
  Autosomal Recessive Leber Congenital Amaurosis
  
  
• RPS19, RPL5 and RPL11
  Diamond-Blackfan anemia (Blackfan-Diamond syndrome)
  
  
• RPS6KA3 (RSK2)
  Coffin-Lowry syndrome
  
  
• RMRP
  Cartilage hair hypoplasia, Metaphyseal dysplasia without hypotrichosis; Spondylometaepiphyseal dysplasia, Menger type, Anauxetic dysplasia
  
  
• RNASEH2A
  Aicardi-Goutieres Syndrome ^NEW!
  
  
• RNASEH2B
  Aicardi-Goutieres Syndrome ^NEW!
  
  
• RNASEH2C
  Aicardi-Goutieres Syndrome ^NEW!
  
  
• RRM2B
  Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy; Progressive external ophthalmoplegia with mtDNA deletions, autosomal dominant 5 (adPEO5)
  
  
• RS1
  X-linked recessive retinoschisis, Juvenile retinoschisis
  
  

• SAG
  Oguchi disease and Congenital Stationary Night Blindness ^NEW
  
  
• SALL1
  Townes-Brocks syndrome
  
  
• SALL4 (HSAL4)
  Duane-Radial Ray syndrome / Acro-Renal-Ocular syndrome
  
  
• SBDS
  Shwachman-Diamond syndrome
  
  
• SCN5A, SCN4B
  Long QT syndrome ^{NEW: EADx Available!}
  
  
• SCO1
  Mitochondrial complex IV deficiency with early onset hepatic failure, and neurologic disorder
  
  
• SCO2
  Mitochondrial complex IV deficiency with fatal infantile cardioencephalomyopathy
  
  
• SCN3B
  Brugada Syndrome ^NEW
  
  
• SDHD, SDHB, SDHC, SDHAF2
  Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC) ^{NEW: SDHAF2 Testing!}
  
  
• SH3BP2 (SH3 Domain-Binding Protein 2)
  Cherubism
  
  
• SHH
  Holoprosencephaly ^{NEW: Includes Deletion Testing!}
  
  
• SHOC2
  Noonan-like with loose anagen hair ^{NEW: Expanded 11 gene panel!}
  
  
• SERPING (C1INH)
  Hereditary angioedema ^{NEW: Includes Deletion Testing!}
  
  
• SLC9A6
  Angelman Syndrome (AS), Angelman-like syndrome (X-Linked Syndromic Mental Retardation, Christianson Type)
  
  
• SLC22A5
  Primary/Systemic Carnitine Deficiency
  
  
• SLC25A13
  Citrin Deficiency ^NEW!
  
  
• SLC25A4(ANT1)
  Progressive external ophthalmoplegia with mtDNA deletions, autosomal dominant 2 (adPEO2)
  
  
• SLC25A20
  Carnitine-Acylcarnitine Translocase Deficiency ^NEW!
  
  
• SNTA1
  Long QT Syndrome ^NEW!
  
  
• SIX1
  Branchiootorenal Syndrome, Branchiootic Syndrome
  
  
• SIX3
  Holoprosencephaly ^{NEW: Includes Deletion Testing!}
  
  
• SIX6
  Aniridia, Anophthalmia, Microphthalmia, Developmental eye disease
  
  
• SMAD4
  Juvenile Polyposis Syndrome (JPS) ^NEW!
  
  Juvenily Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia (JPS-HHT) ^NEW!
  
  Hereditary Hemorrhagic Telangiectasia (HHT) ^NEW!
  
  
• SMPD1; Sphingomyelin phosphodiesterase
  Niemann-Pick Disease, Types A and B
  
  
• SOS1
  Noonan syndrome^{NEW: Expanded 11 gene panel!}
  Noonan Syndrome - Prenatal Testing based on ultrasound findings
  
  
• SOX2
  Aniridia, Anophthalmia, Microphthalmia, Developmental eye disease
  
  
• SOX9
  Campomelic Dysplasia
  
  
• SPINK5
  Netherton syndrome (NTS), Ichthyosis linearis circumflexa
  
  
• SRD5A2
  5-alpha reductase deficiency ^NEW!
  
  
• SRY
  46,XY Gonadal Dysgenesis (SRY-related)
  
  
• STAT3
  Hyper-IgE Recurrent Infection Syndrome; Job's Syndrome; HIES
  
  
• STK11
  Peutz-Jeghers syndrome ^{NEW: Includes Deletion Testing!}
  
  
• STRA6
  Anophthalmia, Microphthalmia
  
  
• SUCLA2
  Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
  
  
• SUCLG1
  Mitochondrial DNA depletion syndrome with lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch
  
  
• SURF1
  Mitochondrial complex IV deficiency; Leigh syndrome
  
  

• TACO1
  Mitochondrial complex IV deficiency; Late-onse Leigh syndrome
  
  
• TAT
  Tyrosinemia Type II ^NEW!
  
  
• TBX1 (T-Box 1)
  Velocardiofacial Syndrome and DiGeorge Syndrome
  
  
• TBX5
  Holt-Oram syndrome
  
  
• TERC (hTR)
  Dyskeratosis congenita, autosomal dominant (DKC)
  
  
• TGIF
  Holoprosencephaly ^{NEW: Includes Deletion Testing!}
  
  
• TGFBR1
  Marfan syndrome, Loeys-Dietz syndrome and Related Disorders ^NEW!
  Ferguson-Smith Disease (Multiple Self-Healing Squamous Epithelioma) ^NEW!
  
  
• TGFBR2
  Marfan syndrome, Loeys-Dietz syndrome and Related Disorders ^NEW!
  
  
• TGM1
  Lamellar ichthyosis (type 1), Collodion baby
  
  
• TH
  Tyrosine Hydroxylase Deficiency/ Autosomal Recessive Infantile Parkinsonism
  
  
• TIMM8A (DDP)
  Deafness-dystonia-optic neuronopathy (DDON) syndrome (aka Mohr-Tranebjaerg syndrome)
  
  
• TINF2
  Dyskeratosis congenita, autosomal dominant
  
  
• TK2
  Mitochondrial DNA depletion syndrome, myopathic form
  
  
• TMEM127
  Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC) ^NEW
  
  
• TNFRSF1A (TRAPS)
  Familial Hibernian fever (TRAPS) ^{NEW 7 Gene Panel!}
  
  
• TNFRSF6
  Autoimmune lymphoproliferative syndrome (ALPS) Type Ia
  
  
• TNNI3
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• TNNT2
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• TNNC1
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• TP53
  Li-Fraumeni Syndrome/Li-Fraumeni Like Syndrome ^NEW!
  
  
• TP73L (TP63; p63)
  Ectrodactyly - ectodermal dysplasia - clefting syndrom, Split hand-split foot malformation; Hay-Wells syndrome, Limb-mammary syndrome
  
  
• TPM1
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy
  
  
• TREX1
  Aicardi-Goutieres Syndrome ^NEW!
  
  
• TRPM1
  Autosomal Recessive Congenital Stationary Night Blindness ^NEW!
  
  
• TSPAN12
  Familial Exudative Vitreoretinopathy (FEVR) ^NEW!
  
  
• TTR
  Hypertrophic Cardiomyopathy, Dilated Cardiomyopathy, Transthyretin Amyloidosis; Cardiac Amyloidosis
  
  
• TYMP(ECGF1)
  Mitochondrial neurogastrointestinal encephalopathy Syndrome (MNGIE); Mitochondrial DNA depletion syndrome
  
  

• UBE3A
  Angelman Syndrome (AS), Angelman-like syndrome (X-Linked Syndromic Mental Retardation, Christianson Type)
  
  
• USH2A
  Autosomal Recessive Retinitis Pigmentosa / Sporadic Retinitis Pigmentosa
  Usher Syndrome Type IIA
  
  
  

• VHL
  Von Hippel-Lindau Syndrome , Chuvash-type Polycythemia
  
  
• VMD2

Best vitelliform macular dystrophy (Best disease), Bestrophinopathy, autosomal recessive, Vitreoretinochoroidopathy, autosomal dominant, Foveomacular vitelliform dystrophy, adult-onset
Retinitis pigmentos, autosomal dominant


• VSX2
  Anophthalmia, Microphthalmia
  
  

• WAS
  Wiskott-Aldrich Syndrome ^NEW!
  X-linked Neutropenia ^NEW!
  X-linked Thrombocytopenia ^NEW!
  
  
• WNT10A
  Ectodermal dysplasia, Odonto-onycho-dermal dysplasia (OODD), Schöpf-Schulz-Passarge Syndrome (SSPS)
  
  

• XLRS1
  X-linked recessive retinoschisis, Juvenile retinoschisis
  
  

• ZIC2
  Holoprosencephaly^{NEW: Includes Deletion Testing!}
  
  

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