Diseases 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 >130 genes sequenced at GeneDx, marked by 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.

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• ADA Severe Combined Immunodeficiency
• Adenosine Deaminase Deficiency
• Alagille Syndrome ^{NEW: Includes Deletion Testing!}
• Alexander Disease
• Allgrove syndrome; Achalasia-Addisonianism-Alacrima
• Alport Syndrome
• Amegakaryocytic Thromobocytopenia, congenital
• Anauxetic Dysplasia
• Androgen Insensitivity Syndrome
• Angelman Syndrome (AS), Angelman-like syndrome (X-Linked Syndromic Mental Retardation, Christianson Type) ^NEW
• Aniridia
• Anophthalmia
• Antley-Bixler Syndrome (ABS)
• APECED
• Aromatase Deficiency
• Atypical Rett syndrome
• Autism/Macrocephaly
• Autoimmune Lymphoproliferative Syndrome (ALPS)
• Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal DystrophySyndrome
• Autosomal Recessive (ADA SCID)
• Autosomal Recessive Hypophosphatemic Rickets (ARHR)
• Autosomal Recessive Retinitis Pigmentosa (arRP)
• Autoimmune Polyglandular Syndrome
• Axenfeld-Rieger Syndrome
  
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• Bannayan-Riley-Ruvalcaba syndrome
• Basal cell nevus syndrome ^{NEW: Now includes Deletion Testing!}
• Beta-Ketothiolase Deficiency
• Biotinidase Deficiency
• Birt-Hogg-Dube Syndrome
• Blackfan-Diamond Syndrome
• Bloom Syndrome ^NEW
• Branchiootic Syndrome
• Branchiootorenal Syndrome
• Bruton type agammaglobulinemia ^{NEW: Includes Deletion Testing!}
• Bullous ichthyosiform erythroderma
  
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• Campomelic Dysplasia
• Cardiac Amyloidosis; Transthyretin Amyloidosis
• Cardiofaciocutaneous Syndrome, Cardio-Facio-Cutaneous (CFC) Syndrome ^{NEW: NEW 8 Gene Panel!}
• Carney Complex
• Carnitine Palmitoyltransferase II (CPT2) Deficiency
• Cartilage Hair Hypoplasia
• Chanarin-Dorfman Syndrome
• CHARGE Syndrome
• Cherubism
• Choroideremia
• Chronic Granulomatous Disease
• Classic Citrullinemia ^NEW!
• Clouston syndrome
• Coffin-Lowry Syndrome
• Cohen syndrome
• Cold Autoinflammatory Syndrome (FCAS) ^{NEW 7 Gene Panel!}
• Collodion baby (lamellar ichthyosis)
• Collodion baby (congenital ichthyosiform erythroderma)
• Cone Rod Dystrophy Autosomal Dominant
• Cone Rod Dystrophy Autosomal Recessive
• Congenital insensitivity to pain with anhidrosis (CIPA)
• Congenital Neutropenia, recessive
• Congenital Recessive Ichthyosis (erythrodermic type)
• Costello syndrome (Facio-cutaneo-skeletal syndrome; FCS syndrome) ^{NEW: NEW 8 Gene Panel!}
• Cowden Syndrome
• Craniofrontonasal syndrome (CFNS)
• Cutis Laxa (autosomal dominant) ^NEW
• Cyclic neutropenia ^{NEW 7 Gene Panel!}
• Cytochrome P450 Oxidoreductase Deficiency
  
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• Danon Disease
• Darier disease
• Dent disease
• Developmental Eye Disease
• Diamond-Blackfan Anemia
• DiGeorge Syndrome and Velocardiofacial Syndrome
• Dilated Cardiomyopathy
• Dopa-responsive Dystonia
• Duane-Radial Ray syndrome / Acro-Renal-Ocular syndrome
• Dyskeratosis Congenita (DKC)
• Dystrophic Epidermolysis Bullosa
  
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• Ectodermal dysplasia ^NEW!
• Ectrodactyly - Ectodermal Dysplasia - Clefting Syndrome
• Epidermolysis Bullosa Dystrophica
• Epidermolysis Bullosa, Junctional Type
• Epidermolysis bullosa, junctional with Muscular Dystrophy
• Epidermolysis Bullosa, Junctional with Pyloric Atresia
• Epidermolysis Bullosa Simplex
• Epidermolytic hyperkeratosis
• Epidermolytic PPK
• Erythrokeratodermia variabilis
  
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• Fabry disease
• Familial Cold Urticaria syndrome ^{NEW 7 Gene Panel!}
• Familial Cutaneous Malignant Melanoma
• Familial Exudative Vitreoretinopathy (FEVR)
• Familial Hypocalciuric Hypercalcemia
• Familial Isolated Hyperparathyroidism (FIHP)
• Familial Medullary Thyroid Carcinoma (FMTC)
• Familial Multiple Mole and Melanoma Syndrome
• Familial Hibernian Fever (TRAPS) ^{NEW 7 Gene Panel!}
• Familial Mediterranean Fever ^{NEW 7 Gene Panel!}
• Feingold syndrome
• Focal Dermal Hypoplasia (FDH) / Goltz Syndrome ^{NEW: Includes Deletion Testing!}
• Fumarase Hydratase Deficiency (FHD)
  
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• Glaucoma
• Glutaric Aciduria Type I (GA1)
• Glutaric Aciduria II (GAII)/ Multiple Acyl-Coa Dehydrogenase Deficiency (MADD)
• Glycogen Storage Disease Type II (GSDII) or Pompe Disease
• Goltz Syndrome
• Gorlin Syndrome (Basal cell nevus syndrome, Nevoid basal cell carcinoma syndrome) ^{NEW: Includes Deletion Testing!}
• GTP Cyclohydrolase I Deficiency
  
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• Hailey-Hailey disease (HHD; familial benign chronic pemphigus)
• Harlequin Ichthyosis (HI)
• Hay-Wells Syndrome
• Hereditary Angioedema ^{NEW: Includes Deletion Testing!}
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Hereditary Paraganglioma-Pheochromocytoma Syndrome (PGL/PCC)
• Herlitz Junctional Epidermolysis Bullosa
• Hermansky-Pudlak syndrome
• Hidrotic ectodermal dysplasia
• Hirschsprung Disease (HSCR)
• HMG CoA Lyase Deficiency (3-Hydroxy-3-Methylglutaryl CoA Lyase Deficiency)
• Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)
• Holoprosencephaly ^{NEW: Includes Deletion Testing!}
• Holt-Oram Syndrome
• Homocystinuria due to Cystathionine β-Synthase Deficiency
• Hyper-IgD Syndrome (HIDS) ^{NEW 7 Gene Panel!}
• Hyper-IgE Recurrent Infection Syndrome; Job's Syndrome; HIES
• Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT)
• Hypertrophic Cardiomyopathy
• Hyperostosis corticalis generalisata, benign form of worth with torus palatinus ^NEW!
• Hypo-/Anhidrotic ectodermal dysplasia (X-linked)
• Hypocalcemia, Autosomal Dominant
• Hypohidrotic Ectodermal Dypslasia (Autosomal Dominant)
• Hypohidrotic Ectodermal Dysplasia (Autosomal Recessive)
• Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID) / Incontinentia Pigmenti (IP)
• Hypophosphatemic rickets (autosomal dominant form)
• Hypophosphatemic rickets (X-linked form) ^{NEW: Includes Deletion Testing!}
• Hypoparathyroidism, Familial Isolated
  
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• Ichthyosis bullosa of Siemens
• Ichthyosis linearis circumflexa
• Ichthyosis vulgaris (IV), with or without associated atopic dermatitis
• IL7R Severe Combined Immunodeficiency, Autosomal Recessive (IL7R SCID)
• Immunodeficiency Syndrome with Hyper IgM, Type 2
• Inclusion Body Myopathy, Hereditary (HIBM)
• Incontinentia Pigmenti (IP) / Hypohidrotic Ectodermal Dysplasia with Immune Deficiency (HED-ID)
• Infantile Spasm Syndrome-2, X-linked
• IRAK4 Deficiency, Invasive Pneumococcal Disease
• Isobutyryl-CoA Dehydrogenase Deficiency
• Isovaleric Acidemia
  
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• JAK3 Severe Combined Immunodeficiency, Autosomal Recessive (JAK3 SCID)
• Job's Syndrome; HIES; Hyper-IgE Recurrent Infection Syndrome
• Junctional Epidermolysis Bullosa
• Junctional Epidermolysis Bullosa with Pyloric Atresia
• Juvenile Retinoschisis
  
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• Kallmann Syndrome
• Keratitis-Ichthyosis-Deafness Syndrome (KID Syndrome)
• Ketothiolase Deficiency ^NEW
  
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• Lamellar ichthyosis (type 1)
• Lamellar ichthyosis (type 2)
• LEOPARD Syndrome ^{NEW: NEW 8 Gene Panel!}
• Leber Congenital Amaurosis Autosomal Dominant
• Leber Congenital Amaurosis Autosomal Recessive
• Lenz Microphthalmia Syndrome (LMS) / OculoFacioCardioDental Syndrome (OFCD)
• Leukocyte Adhesion Deficiency
• Lhermitte-Duclos disease
• Limb-Mammary Syndrome
• Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Deficiency / Mitochondrial Trifunctional Protein (MTP) Deficiency
• Long QT syndrome ^{NEW: EADx Available!}
• Lowe Syndrome
  
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• Malonyl-CoA Decarboxylase Deficiency ^NEW
• 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency
• Majeed syndrome ^{NEW 7 Gene Panel!}
• Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• Metaphyseal Dysplasia without Hypotrichosis
• Methylmalonic Acidemia
• Methylmalonic Aciduria and Homocystinuria, Cobalamin C (cblC) Type
• Microphthalmia
• Mucolipidosis Type IV
• Muckle-Wells syndrome ^{NEW 7 Gene Panel!}
• Multiple Acyl-CoA Dehydrogenase Deficiency (MADD)/ Glutaric Aciduria II (GAII)
• Multiple Endocrine Neoplasia type 1
• Multiple Endocrine Neoplasia type 2A
• Multiple Endocrine Neoplasia type 2B
• Multiple Epiphyseal Dysplasia (MED)
• Multiple Exostoses, hereditary (HME) ^{NEW: Includes Deletion Testing!}
  
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• Nemaline Myopathy
• Neutropenia, Congenital and Cyclic
• Neonatal Onset Multisystem Inflammatory Disease (NOMID) ^{NEW 7 Gene Panel!}
• Neonatal Severe Primary Hyperparathyroidism
• Netherton syndrome (NTS)
• Neutral lipid storage disease with ichthyosis (NLSD)
• Nevoid basal cell carcinoma syndrome
• Niemann-Pick Disease, Types A and B
• Niemann-Pick Disease, Type C
• NOMID/CINCA Syndrome
• Non-bullous congenital ichthyosiform erythroderma (NBCIE)
• Non-epidermolytic PPK
• Non-Herlitz Junctional Epidermolysis Bullosa
• Noonan Syndrome ^{NEW: NEW 9 Gene Panel!}
• Noonan Syndrome - Prenatal Testing based on ultrasound findings
• Non-syndromic Autism or Autism spectrum disorder
  
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• OculoFacioCardioDental Syndrome (OFCD) / Lenz Microphthalmia Syndrome (LMS)
• Odonto-onycho-dermal dysplasia (OODD) ^NEW!
• Omenn Syndrome, RAG or DCLRE1C types ^{NEW: Includes Deletion Testing!}
• Oral-Facial-Digital syndrome Type 1
• Ornithine Transcarbamylase (OTC) Deficiency ^{NEW: Includes Deletion Testing!}
• Osteoporosis-Pseudoglioma syndrome ^NEW!
• Osteopetrosis type 1, autosomal dominant ^NEW!
  
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• 6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency
• Pachyonychia congenita, types I, II
• Parathyroid Carcinoma
• Phenylketonuria (PKU)
• Pneumothorax, Primary Spontaneous
• Pompe Disease or Glycogen Storage Disease Type II (GSDII)
• Popliteal Pterygium Syndrome
• POR Deficiency
• Predisposition to Pyogenic Infections
• Primary/Systemic Carnitine Deficiency
• Propionic Acidemia
• Pseudo-vitamin D deficiency rickets (autosomal recessive)
• Pseudoachondroplasia (PSACH)
• Pseudohermaphroditism ^{COMING SOON!}
• Pseudoxanthoma Elasticum (PXE)
• Peutz-Jeghers Syndrome^{NEW: Includes Deletion Testing!}
• Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome ^{NEW 7 Gene Panel!}
  
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• Retinitis pigmentosa
• Rett syndrome
• Rieger Syndrome
• Rubinstein-Taybi syndrome ^{NEW: Includes Deletion Testing!}
  
  
  
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• Schöpf-Schulz-Passarge Syndrome (SSPS) ^NEW!
• Severe Combined Immunodeficiency, DCLRE1C type ^{NEW: Includes Deletion Testing!}
• Severe Combined Immunodeficiency, JAK3 type
• Severe Combined Immunodeficiency, RAG type
• Short/Branched Chain Acyl-CoA Dehydrogenase (SBCAD) Deficiency ^NEW
• Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• Shwachman-Diamond Syndrome
• Sjögren-Larsson syndrome
• Smith-Lemli-Opitz Syndrome
• Smith-Magenis Syndrome ^{NEW: Includes Deletion Testing!}
• Spinal Muscular Atrophy with Respiratory Distress Type 1 (SMARD1)
• Split Hand - Split Foot Malformation
• Spondylometaepiphyseal Dysplasia, Menger type
• Stargardt Disease
• Steatocystoma multiplex
• Supravalvular Aortic Stenosis ^NEW
• Systemic/Primary Carnitine Deficiency
  
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• Testicular Feminization Syndrome
• TNF Receptor-Associated Periodic Syndrome (TRAPS, Familial Hibernian Fever) ^{NEW 7 Gene Panel!}
• Townes-Brocks syndrome
• Transthyretin Amyloidosis; Cardiac Amyloidosis
• Triple-A syndrome (Allgrove syndrome; Achalasia-Addisonianism-Alacrima)
• Tyrosine Hydroxylase Deficiency/ Autosomal Recessive Infantile Parkinsonism
• Tyrosinemia Type I
  
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• Unna-Thost disease
  
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• Van Buchem disease type 2 ^NEW!
• Van der Woude Syndrome
• Velocardiofacial Syndrome and DiGeorge Syndrome
• Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
• Vohwinkel syndrome
• Von Hippel Lindau Syndrome ^{NEW: Includes Deletion Testing!}
• Vörner disease
  
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• Wermer syndrome
• Williams-Beuren syndrome
• White sponge nevus
• Wolff-Parkinson-White (WPW) Syndrome
  
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• X-linked Agammaglobulinemia
• X-linked Hydrocephalus / Congenital stenosis of the aqueduct of Sylvius ^{NEW: Includes Deletion Testing!}
• X-linked recessive chondrodysplasia punctata ^{NEW: Includes Deletion Testing!}
• X-linked recessive nephrolithiasis
• X-linked recessive retinoschisis
• X-linked Retinitis Pigmentosa
  
  
• 46,XY Gonadal Dysgenesis
• XY Sex Reversal With or Without Adrenal Failure

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