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GTR Home > Laboratories > Ambry Genetics

Ambry Genetics

GTR Lab ID: 61756, Last updated:2022-09-12

Personnel

Conditions and tests

  • 22q11.2 deletion syndrome1 test
  • 3-methylcrotonyl-CoA carboxylase 1 deficiency1 test
  • 3-methylcrotonyl-CoA carboxylase 2 deficiency1 test
  • 3-Methylglutaconic aciduria type 24 tests
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Abetalipoproteinaemia2 tests
  • Achondrogenesis, type IB1 test
  • Achromatopsia 31 test
  • Acrodysostosis 1 with or without hormone resistance6 tests
  • Acromicric dysplasia3 tests
  • Acute lymphoid leukemia19 tests
  • Acute myeloid leukemia8 tests
  • Adams-Oliver syndrome 53 tests
  • Adrenocortical carcinoma, hereditary33 tests
  • Adrenoleukodystrophy1 test
  • Agenesis of the corpus callosum with peripheral neuropathy1 test
  • Aicardi-Goutieres syndrome 21 test
  • Aicardi-Goutieres syndrome 51 test
  • Alagille syndrome due to a JAG1 point mutation2 tests
  • alpha Thalassemia1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Amyloidogenic transthyretin amyloidosis7 tests
  • Andersen Tawil syndrome4 tests
  • Aneurysm-osteoarthritis syndrome3 tests
  • Angelman syndrome1 test
  • Aortic aneurysm, familial thoracic 43 tests
  • Aortic aneurysm, familial thoracic 63 tests
  • Aortic aneurysm, familial thoracic 73 tests
  • Aortic aneurysm, familial thoracic 83 tests
  • Aortic valve disorder3 tests
  • Aplastic anemia20 tests
  • Argininosuccinate lyase deficiency1 test
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma6 tests
  • Arrhythmogenic right ventricular dysplasia 18 tests
  • Arrhythmogenic right ventricular dysplasia 105 tests
  • Arrhythmogenic right ventricular dysplasia 115 tests
  • Arrhythmogenic right ventricular dysplasia 126 tests
  • Arrhythmogenic right ventricular dysplasia 26 tests
  • Arrhythmogenic right ventricular dysplasia 55 tests
  • Arrhythmogenic right ventricular dysplasia 86 tests
  • Arrhythmogenic right ventricular dysplasia 96 tests
  • Arterial tortuosity syndrome3 tests
  • Ashkenazi Jewish disorders1 test
  • Aspartylglucosaminuria1 test
  • Ataxia-telangiectasia syndrome26 tests
  • Ataxia-telangiectasia-like disorder16 tests
  • Atelosteogenesis type II1 test
  • Atrial fibrillation, familial, 106 tests
  • Atrial fibrillation, familial, 124 tests
  • Atrial fibrillation, familial, 134 tests
  • Atrial fibrillation, familial, 142 tests
  • Atrial fibrillation, familial, 34 tests
  • Atrial fibrillation, familial, 44 tests
  • Atrial fibrillation, familial, 95 tests
  • Atrial septal defect 22 tests
  • Atrial septal defect 36 tests
  • Atrial septal defect 44 tests
  • Atrial septal defect 56 tests
  • Atrial septal defect 75 tests
  • Atrioventricular septal defect 42 tests
  • Autoimmune lymphoproliferative syndrome type 46 tests
  • Autosomal dominant nonsyndromic hearing loss 104 tests
  • Autosomal recessive Alport syndrome1 test
  • Autosomal recessive familial Mediterranean fever1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G8 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2J4 tests
  • Autosomal recessive limb-girdle muscular dystrophy type 2M4 tests
  • Autosomal recessive nonsyndromic hearing loss 1A2 tests
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 41 test
  • Autosomal recessive nonsyndromic hearing loss 772 tests
  • Autosomal recessive nonsyndromic hearing loss 976 tests
  • Bannayan-Riley-Ruvalcaba syndrome27 tests
  • BAP1-related tumor predisposition syndrome9 tests
  • Bardet-Biedl syndrome 11 test
  • Bardet-Biedl syndrome 131 test
  • Bardet-Biedl syndrome 22 tests
  • Bardet-Biedl syndrome 61 test
  • Basal cell carcinoma, susceptibility to, 18 tests
  • Basal cell carcinoma, susceptibility to, 733 tests
  • Becker muscular dystrophy6 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy7 tests
  • beta Thalassemia2 tests
  • Biotinidase deficiency1 test
  • Blepharocheilodontic syndrome21 tests
  • Blepharophimosis - intellectual disability syndrome, MKB type3 tests
  • Bloom syndrome6 tests
  • Breast-ovarian cancer, familial, susceptibility to, 127 tests
  • Breast-ovarian cancer, familial, susceptibility to, 230 tests
  • Breast-ovarian cancer, familial, susceptibility to, 315 tests
  • Breast-ovarian cancer, familial, susceptibility to, 417 tests
  • Bronchiectasis with or without elevated sweat chloride 14 tests
  • Brugada syndrome 16 tests
  • Brugada syndrome 24 tests
  • Brugada syndrome 34 tests
  • Brugada syndrome 44 tests
  • Brugada syndrome 54 tests
  • Brugada syndrome 64 tests
  • Brugada syndrome 74 tests
  • Brugada syndrome 84 tests
  • Brugada syndrome 94 tests
  • Capillary malformation-arteriovenous malformation syndrome1 test
  • Carcinoid tumor of intestine8 tests
  • Carcinoma of colon39 tests
  • Carcinoma of pancreas42 tests
  • Cardiac arrhythmia1 test
  • Cardiac arrhythmia, ankyrin-B-related5 tests
  • Cardiac valvular dysplasia, X-linked3 tests
  • Cardiofaciocutaneous syndrome 15 tests
  • Cardiofaciocutaneous syndrome 26 tests
  • Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis6 tests
  • Cardiomyopathy, familial restrictive, 16 tests
  • Cardiomyopathy, familial restrictive, 36 tests
  • Carney complex, type 16 tests
  • Carney-Stratakis syndrome8 tests
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Carpal tunnel syndrome7 tests
  • Cataract 16 multiple types3 tests
  • Catecholaminergic polymorphic ventricular tachycardia1 test
  • Catecholaminergic polymorphic ventricular tachycardia 17 tests
  • Catecholaminergic polymorphic ventricular tachycardia 25 tests
  • Catecholaminergic polymorphic ventricular tachycardia 45 tests
  • Catecholaminergic polymorphic ventricular tachycardia 55 tests
  • Cerebral arteriovenous malformation6 tests
  • Charcot-Marie-Tooth disease type 2B17 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Childhood hypophosphatasia1 test
  • Cholestanol storage disease1 test
  • Choroid plexus papilloma33 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chuvash polycythemia11 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
  • Classic homocystinuria1 test
  • Cobalamin C disease1 test
  • Coffin-Siris syndrome 56 tests
  • Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness6 tests
  • Colorectal cancer, hereditary nonpolyposis, type 233 tests
  • Colorectal cancer, hereditary nonpolyposis, type 431 tests
  • Colorectal cancer, hereditary nonpolyposis, type 531 tests
  • Colorectal cancer, hereditary nonpolyposis, type 63 tests
  • Colorectal cancer, hereditary nonpolyposis, type 829 tests
  • Colorectal cancer, susceptibility to, 14 tests
  • Colorectal cancer, susceptibility to, 1017 tests
  • Complete trisomy 131 test
  • Complete trisomy 13 syndrome1 test
  • Complete trisomy 18 syndrome2 tests
  • Complete trisomy 21 syndrome2 tests
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital amegakaryocytic thrombocytopenia2 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation4 tests
  • Congenital central hypoventilation11 tests
  • Congenital contractural arachnodactyly3 tests
  • Congenital diarrhea 5 with tufting enteropathy29 tests
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
  • Congenital muscular dystrophy due to LMNA mutation7 tests
  • Congenital myasthenic syndrome 4B1 test
  • Congenital myasthenic syndrome 4C1 test
  • Conotruncal heart malformations6 tests
  • Cowden syndrome8 tests
  • Cowden syndrome 127 tests
  • Cowden syndrome 38 tests
  • Creatine transporter deficiency1 test
  • Cystic fibrosis7 tests
  • Danon disease6 tests
  • Deficiency of acetyl-CoA acetyltransferase1 test
  • Deficiency of butyrylcholinesterase1 test
  • Deficiency of galactokinase1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase1 test
  • Desmin-related myofibrillar myopathy4 tests
  • Desmoid disease, hereditary23 tests
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 523 tests
  • Developmental delay2 tests
  • Diabetes mellitus type 11 test
  • Diamond-Blackfan anemia 11 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 111 test
  • Diamond-Blackfan anemia 31 test
  • Diamond-Blackfan anemia 41 test
  • Diamond-Blackfan anemia 51 test
  • Diamond-Blackfan anemia 61 test
  • Diamond-Blackfan anemia 71 test
  • Diamond-Blackfan anemia 81 test
  • Diamond-Blackfan anemia 91 test
  • Diastrophic dysplasia1 test
  • DICER1 syndrome17 tests
  • DiGeorge syndrome2 tests
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A7 tests
  • Dilated cardiomyopathy 1AA6 tests
  • Dilated cardiomyopathy 1BB6 tests
  • Dilated cardiomyopathy 1C4 tests
  • Dilated cardiomyopathy 1CC6 tests
  • Dilated cardiomyopathy 1D6 tests
  • Dilated cardiomyopathy 1DD4 tests
  • Dilated cardiomyopathy 1E6 tests
  • Dilated cardiomyopathy 1EE6 tests
  • Dilated cardiomyopathy 1FF6 tests
  • Dilated cardiomyopathy 1G4 tests
  • Dilated cardiomyopathy 1HH4 tests
  • Dilated cardiomyopathy 1I4 tests
  • Dilated cardiomyopathy 1II3 tests
  • Dilated cardiomyopathy 1J4 tests
  • Dilated cardiomyopathy 1JJ4 tests
  • Dilated cardiomyopathy 1KK6 tests
  • Dilated cardiomyopathy 1M6 tests
  • Dilated cardiomyopathy 1NN7 tests
  • Dilated cardiomyopathy 1O4 tests
  • Dilated cardiomyopathy 1P6 tests
  • Dilated cardiomyopathy 1R6 tests
  • Dilated cardiomyopathy 1S6 tests
  • Dilated cardiomyopathy 1W6 tests
  • Dilated cardiomyopathy 1X4 tests
  • Dilated cardiomyopathy 1Y6 tests
  • Dilated cardiomyopathy 1Z6 tests
  • Dilated cardiomyopathy 2A6 tests
  • Dilated cardiomyopathy 2B3 tests
  • Dilated cardiomyopathy 3B5 tests
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome7 tests
  • Distal myopathy, Tateyama type4 tests
  • Duchenne muscular dystrophy6 tests
  • Dyskeratosis congenita, autosomal dominant 12 tests
  • Dyskeratosis congenita, autosomal dominant 22 tests
  • Dyskeratosis congenita, autosomal dominant 31 test
  • Dyskeratosis congenita, autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive 31 test
  • Dyskeratosis congenita, autosomal recessive 52 tests
  • Dyskeratosis congenita, X-linked1 test
  • Early-onset myopathy with fatal cardiomyopathy4 tests
  • Ehlers-Danlos syndrome, classic type, 13 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Elevated circulating creatine kinase concentration4 tests
  • Ellis-van Creveld syndrome1 test
  • Emery-Dreifuss muscular dystrophy 3, autosomal recessive7 tests
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant6 tests
  • Endemic goiter17 tests
  • Endometrial carcinoma38 tests
  • Enhanced S-cone syndrome2 tests
  • Epidermal nevus5 tests
  • Fabry disease6 tests
  • Familial adenomatous polyposis 123 tests
  • Familial adenomatous polyposis 219 tests
  • Familial adenomatous polyposis 32 tests
  • Familial atrial myxoma6 tests
  • Familial cancer of breast47 tests
  • Familial chylomicronemia syndrome1 test
  • Familial colorectal cancer2 tests
  • Familial dysautonomia2 tests
  • Familial hemophagocytic lymphohistiocytosis 21 test
  • Familial hyperaldosteronism type III2 tests
  • Familial hypercholesterolemia1 test
  • Familial hypobetalipoproteinemia 11 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial Mediterranean fever1 test
  • Familial medullary thyroid carcinoma7 tests
  • Familial meningioma28 tests
  • Familial partial lipodystrophy, Dunnigan type7 tests
  • Familial prostate carcinoma2 tests
  • Familial spontaneous pneumothorax7 tests
  • Fanconi anemia complementation group C6 tests
  • Fanconi anemia complementation group D130 tests
  • Fanconi anemia complementation group J15 tests
  • Fanconi anemia complementation group N25 tests
  • Fanconi anemia complementation group O15 tests
  • Fanconi anemia complementation group U4 tests
  • Fanconi anemia, complementation group S27 tests
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fasting plasma glucose level quantitative trait locus 48 tests
  • Fatal infantile hypertonic myofibrillar myopathy3 tests
  • FG syndrome 13 tests
  • FG syndrome 23 tests
  • Fibromatosis, gingival, 11 test
  • Finnish congenital nephrotic syndrome1 test
  • Follicular thyroid carcinoma5 tests
  • Fragile X syndrome2 tests
  • Friedreich ataxia 15 tests
  • Frontometaphyseal dysplasia3 tests
  • Fumarase deficiency9 tests
  • Galactosemia1 test
  • Gastrointestinal stromal tumor8 tests
  • Gaucher disease perinatal lethal1 test
  • Gaucher disease type I2 tests
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
  • Geleophysic dysplasia 23 tests
  • Generalized epilepsy with febrile seizures plus, type 14 tests
  • Glioma susceptibility 133 tests
  • Glioma susceptibility 227 tests
  • Glioma susceptibility 330 tests
  • Glioma susceptibility 96 tests
  • Glucocorticoid deficiency 54 tests
  • Glucose-6-phosphate transport defect1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA2 tests
  • Glycogen storage disease type III1 test
  • Glycogen storage disease, type II2 tests
  • Glycogen storage disease, type IV2 tests
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VII2 tests
  • GM1 gangliosidosis type 21 test
  • GM1 gangliosidosis type 31 test
  • GM3 synthase deficiency1 test
  • Gorlin syndrome7 tests
  • Hb SS disease1 test
  • Heart-hand syndrome, Slovenian type7 tests
  • Hepatic adenomas, familial1 test
  • Hepatocellular carcinoma35 tests
  • Hereditary cancer1 test
  • Hereditary cancer-predisposing syndrome2 tests
  • Hereditary diffuse gastric adenocarcinoma24 tests
  • Hereditary disease23 tests
  • Hereditary factor IX deficiency disease1 test
  • Hereditary factor XI deficiency disease2 tests
  • Hereditary fructosuria1 test
  • Hereditary hemorrhagic telangiectasia1 test
  • Hereditary leiomyomatosis and renal cell cancer9 tests
  • Hereditary nonpolyposis colon cancer1 test
  • Hereditary pancreatitis4 tests
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 31 test
  • Heterotopia, periventricular, X-linked dominant3 tests
  • Hirschsprung disease, susceptibility to, 17 tests
  • Holocarboxylase synthetase deficiency1 test
  • Holoprosencephaly 77 tests
  • Holt-Oram syndrome4 tests
  • Hurler syndrome1 test
  • Hutchinson-Gilford syndrome7 tests
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 11 test
  • Hypercholesterolemia, familial, 41 test
  • HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED3 tests
  • Hyperinsulinemic hypoglycemia, familial, 12 tests
  • Hyperinsulinism due to glucokinase deficiency1 test
  • Hyperlipoproteinemia, type I1 test
  • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
  • Hyperthyroxinemia, dystransthyretinemic7 tests
  • Hypertrichotic osteochondrodysplasia Cantu type4 tests
  • Hypertrophic cardiomyopathy 18 tests
  • Hypertrophic cardiomyopathy 105 tests
  • Hypertrophic cardiomyopathy 116 tests
  • Hypertrophic cardiomyopathy 126 tests
  • Hypertrophic cardiomyopathy 136 tests
  • Hypertrophic cardiomyopathy 146 tests
  • Hypertrophic cardiomyopathy 156 tests
  • Hypertrophic cardiomyopathy 165 tests
  • Hypertrophic cardiomyopathy 175 tests
  • Hypertrophic cardiomyopathy 186 tests
  • Hypertrophic cardiomyopathy 26 tests
  • Hypertrophic cardiomyopathy 206 tests
  • Hypertrophic cardiomyopathy 258 tests
  • Hypertrophic cardiomyopathy 36 tests
  • Hypertrophic cardiomyopathy 46 tests
  • Hypertrophic cardiomyopathy 65 tests
  • Hypertrophic cardiomyopathy 76 tests
  • Hypertrophic cardiomyopathy 85 tests
  • Hypertrophic cardiomyopathy 94 tests
  • Hypoplastic left heart syndrome 26 tests
  • Hypothyroidism, congenital, nongoitrous, 56 tests
  • Infantile GM1 gangliosidosis1 test
  • Infantile hypophosphatasia1 test
  • Intellectual disability2 tests
  • Intellectual disability, autosomal dominant 156 tests
  • Intellectual disability, autosomal dominant 1616 tests
  • Interstitial lung disease due to ABCA3 deficiency1 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked3 tests
  • Isolated ectopia lentis3 tests
  • Isolated focal cortical dysplasia type II8 tests
  • Isovaleryl-CoA dehydrogenase deficiency1 test
  • Jervell and Lange-Nielsen syndrome 14 tests
  • Jervell and Lange-Nielsen syndrome 24 tests
  • Joubert syndrome 101 test
  • Joubert syndrome 22 tests
  • Joubert syndrome 281 test
  • Joubert syndrome 31 test
  • Joubert syndrome 326 tests
  • Joubert syndrome 51 test
  • Joubert syndrome 91 test
  • Juvenile myelomonocytic leukemia6 tests
  • Juvenile polyposis syndrome22 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome22 tests
  • Juvenile retinoschisis1 test
  • Kartagener syndrome2 tests
  • Keratosis palmoplantaris striata 26 tests
  • Large congenital melanocytic nevus5 tests
  • Leber congenital amaurosis 101 test
  • Leber congenital amaurosis 21 test
  • Left ventricular noncompaction 106 tests
  • Legius syndrome1 test
  • Leigh syndrome8 tests
  • LEOPARD syndrome 16 tests
  • LEOPARD syndrome 27 tests
  • LEOPARD syndrome 35 tests
  • Lethal acantholytic epidermolysis bullosa6 tests
  • Lethal congenital glycogen storage disease of heart5 tests
  • Lethal tight skin contracture syndrome7 tests
  • Li-Fraumeni syndrome 133 tests
  • Li-Fraumeni syndrome 224 tests
  • Linear nevus sebaceous syndrome6 tests
  • Loeys-Dietz syndrome 13 tests
  • Loeys-Dietz syndrome 23 tests
  • Long QT syndrome 14 tests
  • Long QT syndrome 104 tests
  • Long QT syndrome 114 tests
  • Long QT syndrome 124 tests
  • Long QT syndrome 132 tests
  • Long QT syndrome 145 tests
  • Long QT syndrome 24 tests
  • Long QT syndrome 36 tests
  • Long QT syndrome 54 tests
  • Long QT syndrome 64 tests
  • Long QT syndrome 94 tests
  • Lung carcinoma6 tests
  • Lymphangiomyomatosis8 tests
  • Lynch syndrome1 test
  • Lynch syndrome 132 tests
  • Lysosomal acid lipase deficiency1 test
  • Macrocephaly-autism syndrome27 tests
  • Macular degeneration, early-onset3 tests
  • Macular degeneration, X-linked atrophic1 test
  • Malignant tumor of esophagus3 tests
  • Malignant tumor of prostate40 tests
  • Malignant tumor of testis22 tests
  • Malignant tumor of urinary bladder13 tests
  • Mandibular hypoplasia-deafness-progeroid syndrome17 tests
  • Mandibuloacral dysplasia7 tests
  • Maple syrup urine disease1 test
  • Maple syrup urine disease type 1B1 test
  • Marfan syndrome3 tests
  • MASA syndrome1 test
  • MASS syndrome3 tests
  • Maturity-onset diabetes of the young type 11 test
  • Maturity-onset diabetes of the young type 21 test
  • Maturity-onset diabetes of the young type 31 test
  • Maturity-onset diabetes of the young type 41 test
  • Meckel syndrome, type 11 test
  • Meckel syndrome, type 21 test
  • Meckel syndrome, type 41 test
  • Meckel syndrome, type 61 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Medulloblastoma32 tests
  • Megalencephalic leukoencephalopathy with subcortical cysts 11 test
  • Melanoma and neural system tumor syndrome23 tests
  • Melanoma, cutaneous malignant, susceptibility to, 127 tests
  • Melanoma, cutaneous malignant, susceptibility to, 106 tests
  • Melanoma, cutaneous malignant, susceptibility to, 223 tests
  • Melanoma, cutaneous malignant, susceptibility to, 318 tests
  • Melanoma, cutaneous malignant, susceptibility to, 86 tests
  • Melanoma, cutaneous malignant, susceptibility to, 92 tests
  • Melanoma-pancreatic cancer syndrome23 tests
  • Melnick-Needles syndrome3 tests
  • Merosin deficient congenital muscular dystrophy1 test
  • Metachondromatosis6 tests
  • Metachromatic leukodystrophy1 test
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Methylmalonic aciduria and homocystinuria type cblD1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Methylmalonic aciduria, cblA type1 test
  • Microcephaly, normal intelligence and immunodeficiency20 tests
  • Mitochondrial complex II deficiency, nuclear type 18 tests
  • Mitochondrial DNA depletion syndrome 4b1 test
  • Moyamoya disease 53 tests
  • Mucolipidosis type II1 test
  • Mucolipidosis type IV2 tests
  • Mucopolysaccharidosis, MPS-I-H/S1 test
  • Mucopolysaccharidosis, MPS-I-S1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-IV-B1 test
  • Muir-Torré syndrome35 tests
  • Multiple congenital anomalies4 tests
  • Multiple endocrine neoplasia type 46 tests
  • Multiple endocrine neoplasia, type 19 tests
  • Multiple endocrine neoplasia, type 2a7 tests
  • Multiple endocrine neoplasia, type 2b7 tests
  • Multiple epiphyseal dysplasia type 41 test
  • Multiple fibrofolliculomas7 tests
  • Multiple self-healing squamous epithelioma3 tests
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscular dystrophy, limb-girdle, autosomal recessive 231 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 45 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A51 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B46 tests
  • Muscular dystrophy-dystroglycanopathy type B51 test
  • MYH7-related late-onset scapuloperoneal muscular dystrophy6 tests
  • MYH7-related skeletal myopathy6 tests
  • Myhre syndrome22 tests
  • Myofibrillar myopathy 23 tests
  • Myofibrillar myopathy 44 tests
  • Myofibrillar myopathy 64 tests
  • Myopathy, myofibrillar, 9, with early respiratory failure4 tests
  • Myopathy, myosin storage, autosomal recessive6 tests
  • Myosin storage myopathy6 tests
  • MYPN-related myopathy6 tests
  • Nasopharyngeal carcinoma33 tests
  • Naxos disease6 tests
  • Nemaline myopathy 22 tests
  • Neonatal acute respiratory distress due to SP-B deficiency1 test
  • Neonatal intrahepatic cholestasis due to citrin deficiency1 test
  • Neoplasm of ovary21 tests
  • Neoplasm of stomach26 tests
  • Nephropathic cystinosis1 test
  • Neuroblastoma, susceptibility to, 28 tests
  • Neuroblastoma, susceptibility to, 34 tests
  • Neurocutaneous melanocytosis5 tests
  • Neurofibromatosis, type 119 tests
  • Neurofibromatosis, type 27 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type4 tests
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Niemann-Pick disease, type A2 tests
  • Niemann-Pick disease, type B1 test
  • Niemann-Pick disease, type C11 test
  • Nijmegen breakage syndrome-like disorder14 tests
  • Non-ketotic hyperglycinemia1 test
  • Nonpapillary renal cell carcinoma13 tests
  • Noonan syndrome 16 tests
  • Noonan syndrome 36 tests
  • Noonan syndrome 41 test
  • Noonan syndrome 57 tests
  • Noonan syndrome 65 tests
  • Noonan syndrome 75 tests
  • Ocular albinism with congenital sensorineural hearing loss6 tests
  • Ornithine carbamoyltransferase deficiency1 test
  • Orofaciodigital syndrome I1 test
  • Osteofibrous dysplasia6 tests
  • Osteosarcoma36 tests
  • Oto-palato-digital syndrome, type I3 tests
  • Oto-palato-digital syndrome, type II3 tests
  • Pancreatic agenesis 11 test
  • Pancreatic cancer, susceptibility to, 230 tests
  • Pancreatic cancer, susceptibility to, 325 tests
  • Pancreatic cancer, susceptibility to, 427 tests
  • Paragangliomas 26 tests
  • Paragangliomas 38 tests
  • Paragangliomas 48 tests
  • Paragangliomas 58 tests
  • Paragangliomas with sensorineural hearing loss8 tests
  • Parkes Weber syndrome1 test
  • Pendred syndrome1 test
  • Permanent neonatal diabetes mellitus1 test
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peroxisome biogenesis disorder 4A (Zellweger)1 test
  • Peroxisome biogenesis disorder 5A (Zellweger)2 tests
  • Peutz-Jeghers syndrome22 tests
  • PHARC syndrome1 test
  • Phenylketonuria2 tests
  • Pheochromocytoma12 tests
  • Phosphate transport defect1 test
  • Pigmented nodular adrenocortical disease, primary, 16 tests
  • Pilomatrixoma19 tests
  • Pituitary hormone deficiency, combined, 21 test
  • PMM2-congenital disorder of glycosylation2 tests
  • Polycystic kidney disease 42 tests
  • Polyglandular autoimmune syndrome, type 11 test
  • Polyposis syndrome, hereditary mixed, 218 tests
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 2D1 test
  • Pontocerebellar hypoplasia type 61 test
  • Prader-Willi syndrome1 test
  • Primary ciliary dyskinesia 101 test
  • Primary ciliary dyskinesia 111 test
  • Primary ciliary dyskinesia 121 test
  • Primary ciliary dyskinesia 131 test
  • Primary ciliary dyskinesia 141 test
  • Primary ciliary dyskinesia 151 test
  • Primary ciliary dyskinesia 171 test
  • Primary ciliary dyskinesia 181 test
  • Primary ciliary dyskinesia 191 test
  • Primary ciliary dyskinesia 21 test
  • Primary ciliary dyskinesia 201 test
  • Primary ciliary dyskinesia 231 test
  • Primary ciliary dyskinesia 281 test
  • Primary ciliary dyskinesia 33 tests
  • Primary ciliary dyskinesia 61 test
  • Primary ciliary dyskinesia 71 test
  • Primary ciliary dyskinesia 93 tests
  • Primary dilated cardiomyopathy1 test
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I1 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome3 tests
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 11 test
  • Progressive familial heart block type IB4 tests
  • Progressive familial heart block, type 1A6 tests
  • Progressive familial intrahepatic cholestasis type 21 test
  • Progressive sclerosing poliodystrophy1 test
  • Propionic acidemia1 test
  • Prostate cancer, hereditary, 916 tests
  • Pseudo-Hurler polydystrophy1 test
  • Pseudoxanthoma elasticum1 test
  • PTEN hamartoma tumor syndrome1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 12 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 22 tests
  • Pyruvate carboxylase deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency2 tests
  • Recessive dystrophic epidermolysis bullosa1 test
  • Renal carnitine transport defect1 test
  • Renal cell carcinoma6 tests
  • Renal cysts and diabetes syndrome1 test
  • Reticular dystrophy of the retinal pigment epithelium17 tests
  • Retinitis pigmentosa 201 test
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 31 test
  • Retinitis pigmentosa 592 tests
  • Retinitis pigmentosa 931 test
  • Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness1 test
  • Retinoblastoma7 tests
  • Revesz syndrome1 test
  • Rhabdoid tumor predisposition syndrome 16 tests
  • Rhabdoid tumor predisposition syndrome 216 tests
  • Rhabdomyosarcoma, embryonal, 217 tests
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rienhoff syndrome8 tests
  • Rippling muscle disease4 tests
  • Rippling muscle disease 24 tests
  • Rotor syndrome1 test
  • Sandhoff disease1 test
  • Schwannomatosis1 test
  • Schwannomatosis 17 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Severe Canavan disease1 test
  • Short QT syndrome type 14 tests
  • Short QT syndrome type 24 tests
  • Short QT syndrome type 35 tests
  • Shprintzen-Goldberg syndrome3 tests
  • Shwachman-Diamond syndrome 11 test
  • Sick sinus syndrome 16 tests
  • Sick sinus syndrome 2, autosomal dominant4 tests
  • Sick sinus syndrome 3, susceptibility to6 tests
  • Simpson-Golabi-Behmel syndrome type 21 test
  • Sitosterolemia1 test
  • Sjögren-Larsson syndrome1 test
  • Skin fragility-woolly hair-palmoplantar keratoderma syndrome6 tests
  • Small cell lung carcinoma7 tests
  • Smith-Lemli-Opitz syndrome2 tests
  • Somatotroph adenoma4 tests
  • Spinal muscular atrophy2 tests
  • Spinocerebellar ataxia type 19/224 tests
  • Spondylocostal dysostosis 2, autosomal recessive1 test
  • Spongy degeneration of central nervous system1 test
  • Squamous cell carcinoma of the head and neck27 tests
  • Stiff skin syndrome3 tests
  • SUDDEN INFANT DEATH SYNDROME6 tests
  • Surfactant metabolism dysfunction, pulmonary, 21 test
  • Tay-Sachs disease2 tests
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Terminal osseous dysplasia-pigmentary defects syndrome3 tests
  • Testicular anomalies with or without congenital heart disease2 tests
  • Tetralogy of Fallot6 tests
  • Tibial muscular dystrophy4 tests
  • Tietz syndrome6 tests
  • Timothy syndrome4 tests
  • Tropical pancreatitis1 test
  • Trypsinogen deficiency1 test
  • Tuberous sclerosis 19 tests
  • Tuberous sclerosis 29 tests
  • Turcot syndrome37 tests
  • Turner syndrome1 test
  • Type 1 diabetes mellitus 201 test
  • Type 2 diabetes mellitus1 test
  • Tyrosinemia type I2 tests
  • Usher syndrome type 11 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F2 tests
  • Usher syndrome type 2A1 test
  • Usher syndrome type 31 test
  • Usher syndrome type 3A2 tests
  • VACTERL with hydrocephalus27 tests
  • Velocardiofacial syndrome2 tests
  • Ventricular fibrillation, paroxysmal familial, type 16 tests
  • Ventricular septal defect 12 tests
  • Ventricular septal defect 36 tests
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Vitamin D-dependent rickets, type 1A1 test
  • Von Hippel-Lindau syndrome11 tests
  • Waardenburg syndrome type 2A6 tests
  • Weill-Marchesani syndrome 2, dominant3 tests
  • Werdnig-Hoffmann disease3 tests
  • Werner syndrome1 test
  • Wilms tumor 130 tests
  • Wilson disease2 tests
  • Wolff-Parkinson-White pattern5 tests
  • X-linked cone-rod dystrophy 11 test
  • X-linked Emery-Dreifuss muscular dystrophy3 tests
  • X-linked hydrocephalus syndrome1 test
  • X-linked intellectual disability with marfanoid habitus3 tests
  • X-linked lissencephaly with abnormal genitalia1 test
  • Xeroderma pigmentosum group A1 test
  • Xeroderma pigmentosum, group C1 test
  • Xeroderma pigmentosum, group D1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Insurance billing
  • Insurance preauthorization
  • Insurance preverification
  • Maternal cell contamination study (MCC)
  • Mutation Confirmation
  • Whole Exome Sequencing
  • Carrier Screening
  • Non-Invasive Prenatal Testing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 05D0981414, Expiration date: 2024-05-29
  • CAP, Number: 7154701, Expiration date: 2024-10-26
  • Federalwide Assurance (FWA) for the Protection of Human Subjects, Number: FWA00024430, Expiration date: 2022-11-08

Licenses

  • CA - California Department of Public Health CDPH, Number: CDF00011694, Expiration date: 2022-10-17
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 1052, Effective date: 2018-07-01 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: PFI: 8160, Expiration date: 2022-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 27832A, Expiration date: 2023-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00680, Expiration date: 2023-12-30

Participation in external programs

Standardization programs

  • Other

Data exchange Programs

  • Other

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.