Diseases for which GeneDx offers tests

------ A ------


• Alagille Syndrome
• Alexander Disease
• Allgrove syndrome; Achalasia-Addisonianism-Alacrima
• Alport Syndrome
• Amegakaryocytic Thromobocytopenia, congenital
• Anauxetic Dysplasia
• Androgen Insensitivity Syndrome
• Aniridia
• Anophthalmia
• APECED
• Autoimmune Lymphoproliferative Syndrome (ALPS)
• Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal DystrophySyndrome
• Autoimmune Polyglandular Syndrome
• Axenfeld-Rieger Syndrome
  
  ------ B ------
  
  
• Bannayan-Riley-Ruvalcaba syndrome^{NEW! Promoter and Deletion Testing Included}
  
• Basal cell nevus syndrome
• Biotinidase Deficiency ^NEW!
• Birt-Hogg-Dube Syndrome
• Blackfan-Diamond Syndrome
• Bruton type agammaglobulinemia
• Bullous ichthyosiform erythroderma
  
  ------ C ------
  
  
• Cardio-Facio-Cutaneous (CFC) Syndrome
• Carney Complex
• Cartilage Hair Hypoplasia
• Chanarin-Dorfman Syndrome
• CHARGE Syndrome
• Cherubism
• Choroideremia^NEW!
  
• Chronic Granulomatous Disease
• Clouston syndrome
• Coffin-Lowry Syndrome
• Cohen syndrome
• Collodion baby (lamellar ichthyosis)
• Collodion baby (congenital ichthyosiform erythroderma)
• Congenital insensitivity to pain with anhidrosis (CIPA)
• Congenital Neutropenia, recessive^NEW!
  
• Congenital Recessive Ichthyosis (erythrodermic type)^{New! ICHTHYIN testing now available}
  
• Costello syndrome (Facio-cutaneo-skeletal syndrome; FCS syndrome)
• Cowden Syndrome^{NEW! Promoter and Deletion Testing Included}
  
  
  ------ D ------
  
  
• Darier disease
• Dent disease
• Developmental Eye Disease
• Diamond-Blackfan Anemia
• Dopa-responsive Dystonia
• Duane-Radial Ray syndrome / Acro-Renal-Ocular syndrome
• Dyskeratosis Congenita (DKC)
• Dystrophic Epidermolysis Bullosa
  
  ------ E ------
  
  
• Ectrodactyly - Ectodermal Dysplasia - Clefting Syndrome
• Epidermolysis Bullosa Dystrophica
• Epidermolysis Bullosa, Junctional Type
• Epidermolysis Bullosa, Junctional with Pyloric Atresia
• Epidermolysis Bullosa Simplex
• Epidermolytic hyperkeratosis
• Epidermolytic PPK
• Erythrokeratodermia variabilis
  
  ------ F ------
  
  
• Fabry disease
• Familial Cold Urticaria syndrome
• Familial Cutaneous Malignant Melanoma
• Familial Hypocalciuric Hypercalcemia
• Familial Isolated Hyperparathyroidism (FIHP)
• Familial Medullary Thyroid Carcinoma (FMTC)
• Familial Multiple Mole and Melanoma Syndrome
• Familial Hibernian Fever (TRAPS)
• Familial Mediterranean Fever
• Feingold syndrome
  
  ------ G ------
  
  
• Glycogen Storage Disease Type II (GSDII) or Pompe Disease
• Gorlin syndrome
  
  ------ H ------
  
  
• Hailey-Hailey disease (HHD; familial benign chronic pemphigus)
• Harlequin Ichthyosis (HI)
• Hay-Wells Syndrome
• Hereditary angioedema
• Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)
• Herlitz Junctional Epidermolysis Bullosa
• Hermansky-Pudlak syndrome
• Hidrotic ectodermal dysplasia
• Hirschsprung Disease (HSCR)
• Holoprosencephaly
• Holt-Oram Syndrome
• Hyper-IgD Syndrome (HIDS)
• Hyperparathyroidism-Jaw Tumor Syndrome (HPT-JT)
• Hypo-/Anhidrotic ectodermal dysplasia (X-linked)
• Hypocalcemia, Autosomal Dominant
• Hypohidrotic Ectodermal Dypslasia (Autosomal Dominant)
• Hypohidrotic Ectodermal Dysplasia (Autosomal Recessive)
• Hypophosphatemic rickets (autosomal dominant form)
• Hypophosphatemic rickets (X-linked form)
• Hypoparathyroidism, Familial Isolated
  
  ------ I ------
  
  
• Ichthyosis bullosa of Siemens
• Ichthyosis linearis circumflexa
• Ichthyosis vulgaris (IV), with or without associated atopic dermatitis
• IL7R Severe Combined Immunodeficiency, Autosomal Recessive (IL7R SCID)^NEW!
• Inclusion Body Myopathy, Hereditary (HIBM)
  
  ------ J ------
  
  
• JAK3 Severe Combined Immunodeficiency, Autosomal Recessive (JAK3 SCID)
• Junctional Epidermolysis Bullosa
• Junctional Epidermolysis Bullosa with Pyloric Atresia
• Juvenile Retinoschisis
  
  ------ K ------
  
  
• Keratitis-Ichthyosis-Deafness Syndrome (KID Syndrome)
• Kallmann Syndrome
  
  ------ L ------
  
  
• Lamellar ichthyosis (type 1)
• Lamellar ichthyosis (type 2)
• LEOPARD Syndrome
• Leukocyte Adhesion Deficiency
• Lhermitte-Duclos disease
• Limb-Mammary Syndrome
• Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase (LCHAD) Deficiency / Mitochondrial Trifunctional Protein (MTP) Deficiency
  
  ------ M ------
  
  
• 3-Methylcrotonyl-CoA Carboxylase (3-MCC) Deficiency ^NEW!
• Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
• Metaphyseal Dysplasia without Hypotrichosis
• Methylmalonic Acidemia
• Microphthalmia
• Methylmalonic Aciduria and Homocystinuria, Cobalamin C (cblC) Type
• Mucolipidosis Type IV
• Muckle-Wells syndrome
• Multiple Endocrine Neoplasia type 1
• Multiple Endocrine Neoplasia type 2A
• Multiple Endocrine Neoplasia type 2B
• Multiple Epiphyseal Dysplasia (MED)
• Multiple Exostoses, hereditary (HME)
  
  ------ N ------
  
  
• Nemaline Myopathy
• Neutropenia, Congenital and Cyclic
• 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
• Noonan Syndrome - Prenatal Testing based on ultrasound findings
  
  ------ O ------
  
  
• Omenn Syndrome, RAG or DCLRE1C types
  
  ------ P ------
  
  
• Pachyonychia congenita, types I, II
• Parathyroid Carcinoma
• Phenylketonuria (PKU)
• Pneumothorax, Primary Spontaneous
• Pompe Disease or Glycogen Storage Disease Type II (GSDII)
• Popliteal Pterygium Syndrome
• Propionic Acidemia ^NEW!
• Pseudo-vitamin D deficiency rickets (autosomal recessive)
• Pseudoachondroplasia (PSACH)
• Pseudoxanthoma Elasticum (PXE)
• Peutz-Jeghers Syndrome
• Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome
  
  ------ R ------
• Retinitis pigmentosa ^NEW!
• Rieger Syndrome
• Rubinstein-Taybi syndrome
  
  
  
  ------ S ------
  
  
• Severe Combined Immunodeficiency, DCLRE1C type
• Severe Combined Immunodeficiency, JAK3 type
• Severe Combined Immunodeficiency, RAG type
• Smith-Lemli-Opitz Syndrome
• Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency
• Shwachman-Diamond Syndrome
• Sjögren-Larsson syndrome
• Smith-Magenis Syndrome
• Split Hand - Split Foot Malformation
• Spondylometaepiphyseal Dysplasia, Menger type
• Steatocystoma multiplex
  
  ------ T ------
  
  
• Testicular Feminization Syndrome
• Townes-Brocks syndrome
• Triple-A syndrome (Allgrove syndrome; Achalasia-Addisonianism-Alacrima)
  
  ------ U ------
  
  
• Unna-Thost disease
  
  ------ V ------
  
  
• Van der Woude Syndrome
• Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
• Vohwinkel syndrome
• Vörner disease
  
  ------ W ------
  
  
• Wermer syndrome
• White sponge nevus
  
  ------ X ------
  
  
• X-linked Agammaglobulinemia
• X-linked Hydrocephalus / Congenital stenosis of the aqueduct of Sylvius
• X-linked recessive chondrodysplasia punctata
• X-linked recessive nephrolithiasis
• X-linked recessive retinoschisis
• XY Female Gonadal Dysgenesis

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