Ambry Genetics

Personnel

Director: Elizabeth Chao, MD, Lab Director
Email: echao@ambrygen.com
Director: Brigette Davis, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Email: btippin@ambrygen.com
Director: Chia-Ling Gau, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Email: cgau@ambrygen.com
Julia Thai, BS, Administrator
Email: jthai@ambrygen.com
Monalyn Salvador, MS, CGC, Manager, Product Management - Oncology
Phone: 949-457-8961
Email: mumali@ambrygen.com

Conditions and tests

700 conditions/phenotypes with 128 tests
Enter text to narrow down the list

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 resistance5 tests
Acromicric dysplasia3 tests
Acute lymphoid leukemia11 tests
Acute myeloid leukemia3 tests
Adams-Oliver syndrome 53 tests
Adrenocortical carcinoma, hereditary27 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
Andersen Tawil syndrome3 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 anemia12 tests
Argininosuccinate lyase deficiency1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma5 tests
Arrhythmogenic right ventricular dysplasia 15 tests
Arrhythmogenic right ventricular dysplasia 105 tests
Arrhythmogenic right ventricular dysplasia 115 tests
Arrhythmogenic right ventricular dysplasia 125 tests
Arrhythmogenic right ventricular dysplasia 26 tests
Arrhythmogenic right ventricular dysplasia 55 tests
Arrhythmogenic right ventricular dysplasia 85 tests
Arrhythmogenic right ventricular dysplasia 95 tests
Arterial tortuosity syndrome3 tests
Ashkenazi Jewish disorders1 test
Aspartylglucosaminuria1 test
Ataxia-telangiectasia syndrome21 tests
Ataxia-telangiectasia-like disorder9 tests
Atelosteogenesis type II1 test
ATP1A3-associated neurological disorder1 test
Atrial fibrillation, familial, 106 tests
Atrial fibrillation, familial, 124 tests
Atrial fibrillation, familial, 133 tests
Atrial fibrillation, familial, 142 tests
Atrial fibrillation, familial, 34 tests
Atrial fibrillation, familial, 44 tests
Atrial fibrillation, familial, 93 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 41 test
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 975 tests
Bannayan-Riley-Ruvalcaba syndrome21 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, 728 tests
Becker muscular dystrophy6 tests
beta Thalassemia2 tests
Biotinidase deficiency1 test
Birt-Hogg-Dube syndrome6 tests
Blepharocheilodontic syndrome14 tests
Blepharophimosis - intellectual disability syndrome, MKB type3 tests
Bloom syndrome4 tests
Breast-ovarian cancer, familial, susceptibility to, 121 tests
Breast-ovarian cancer, familial, susceptibility to, 224 tests
Breast-ovarian cancer, familial, susceptibility to, 310 tests
Breast-ovarian cancer, familial, susceptibility to, 412 tests
Bronchiectasis with or without elevated sweat chloride 14 tests
Brugada syndrome 16 tests
Brugada syndrome 23 tests
Brugada syndrome 33 tests
Brugada syndrome 43 tests
Brugada syndrome 53 tests
Brugada syndrome 63 tests
Brugada syndrome 73 tests
Brugada syndrome 83 tests
Brugada syndrome 93 tests
Capillary malformation-arteriovenous malformation syndrome1 test
Carcinoid tumor of intestine8 tests
Carcinoma of colon31 tests
Carcinoma of pancreas35 tests
Cardiac arrhythmia1 test
Cardiac arrhythmia, ankyrin-B-related4 tests
Cardiac valvular dysplasia, X-linked3 tests
Cardiofaciocutaneous syndrome 21 test
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis5 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 tachycardia 16 tests
Catecholaminergic polymorphic ventricular tachycardia 24 tests
Catecholaminergic polymorphic ventricular tachycardia 45 tests
Catecholaminergic polymorphic ventricular tachycardia 55 tests
Cerebral arteriovenous malformation1 test
Charcot-Marie-Tooth disease type 2B16 tests
Charlevoix-Saguenay spastic ataxia1 test
Childhood hypophosphatasia1 test
Cholestanol storage disease1 test
Choroid plexus papilloma28 tests
Chromosome 1p36 deletion syndrome1 test
Chuvash polycythemia10 tests
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency2 tests
Classic homocystinuria1 test
Cobalamin C disease1 test
Coffin-Siris syndrome 55 tests
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness5 tests
Colorectal cancer, hereditary nonpolyposis, type 224 tests
Colorectal cancer, hereditary nonpolyposis, type 63 tests
Colorectal cancer, susceptibility to, 13 tests
Colorectal cancer, susceptibility to, 1012 tests
Complete trisomy 131 test
Complete trisomy 13 syndrome1 test
Complete trisomy 182 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 hypoventilation9 tests
Congenital contractural arachnodactyly3 tests
Congenital diarrhea 5 with tufting enteropathy20 tests
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type1 test
Congenital muscular dystrophy due to LMNA mutation6 tests
Congenital myasthenic syndrome 4B1 test
Congenital myasthenic syndrome 4C1 test
Conotruncal heart malformations5 tests
Cowden syndrome8 tests
Cowden syndrome 122 tests
Cowden syndrome 37 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, hereditary17 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-related tumor predisposition12 tests
DiGeorge syndrome2 tests
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A6 tests
Dilated cardiomyopathy 1AA6 tests
Dilated cardiomyopathy 1BB5 tests
Dilated cardiomyopathy 1C4 tests
Dilated cardiomyopathy 1CC6 tests
Dilated cardiomyopathy 1D6 tests
Dilated cardiomyopathy 1DD4 tests
Dilated cardiomyopathy 1E7 tests
Dilated cardiomyopathy 1EE6 tests
Dilated cardiomyopathy 1FF6 tests
Dilated cardiomyopathy 1G4 tests
Dilated cardiomyopathy 1HH4 tests
Dilated cardiomyopathy 1I6 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 syndrome6 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 2, autosomal dominant6 tests
Emery-Dreifuss muscular dystrophy 3, autosomal recessive6 tests
Emery-Dreifuss muscular dystrophy 7, autosomal dominant5 tests
Endemic goiter13 tests
Endometrial carcinoma29 tests
Enhanced S-cone syndrome2 tests
Epilepsy, idiopathic generalized, susceptibility to, 121 test
Episodic ataxia type 61 test
Episodic pain syndrome, familial, 21 test
Fabry disease6 tests
Familial adenomatous polyposis 118 tests
Familial adenomatous polyposis 213 tests
Familial adenomatous polyposis 32 tests
Familial amyloid neuropathy7 tests
Familial atrial myxoma5 tests
Familial cancer of breast38 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 meningioma23 tests
Familial partial lipodystrophy, Dunnigan type6 tests
Familial prostate carcinoma2 tests
Familial spontaneous pneumothorax6 tests
Fanconi anemia complementation group C4 tests
Fanconi anemia complementation group D122 tests
Fanconi anemia complementation group J8 tests
Fanconi anemia complementation group N18 tests
Fanconi anemia complementation group O8 tests
Fanconi anemia complementation group U2 tests
Fanconi anemia, complementation group S19 tests
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
Fasting plasma glucose level quantitative trait locus 47 tests
Fatal infantile hypertonic myofibrillar myopathy3 tests
FG syndrome 13 tests
FG syndrome 23 tests
Fibromatosis, gingival, 11 test
Finnish congenital nephrotic syndrome1 test
Fragile X syndrome2 tests
Friedreich ataxia 15 tests
Frontometaphyseal dysplasia3 tests
Fumarase deficiency8 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 13 tests
Glioma susceptibility 128 tests
Glioma susceptibility 222 tests
Glioma susceptibility 324 tests
Glioma susceptibility 95 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 syndrome5 tests
Hb SS disease1 test
Heart-hand syndrome, Slovenian type6 tests
Hepatic adenomas, familial1 test
Hepatocellular carcinoma30 tests
Hereditary cancer1 test
Hereditary cancer-predisposing syndrome5 tests
Hereditary diffuse gastric adenocarcinoma17 tests
Hereditary disease21 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 76 tests
Holt-Oram syndrome3 tests
Hurler syndrome1 test
Hutchinson-Gilford syndrome6 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 188 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 25 tests
Hypothyroidism, congenital, nongoitrous, 55 tests
Infantile GM1 gangliosidosis1 test
Infantile hypophosphatasia1 test
Intellectual disability2 tests
Intellectual disability, autosomal dominant 155 tests
Intellectual disability, autosomal dominant 1610 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 II6 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 325 tests
Joubert syndrome 51 test
Joubert syndrome 91 test
Juvenile myelomonocytic leukemia6 tests
Juvenile polyposis syndrome16 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome17 tests
Juvenile retinoschisis1 test
Kartagener syndrome2 tests
Keratosis palmoplantaris striata 25 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
Lethal acantholytic epidermolysis bullosa5 tests
Lethal congenital glycogen storage disease of heart5 tests
Lethal tight skin contracture syndrome6 tests
Li-Fraumeni syndrome 128 tests
Li-Fraumeni syndrome 218 tests
Linear nevus sebaceous syndrome1 test
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 133 tests
Long QT syndrome 145 tests
Long QT syndrome 151 test
Long QT syndrome 161 test
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 carcinoma1 test
Lymphangiomyomatosis7 tests
Lynch syndrome1 test
Lynch syndrome 125 tests
Lynch syndrome 424 tests
Lynch syndrome 524 tests
Lynch syndrome 822 tests
Lysosomal acid lipase deficiency1 test
Macrocephaly-autism syndrome20 tests
Macular degeneration, early-onset3 tests
Macular degeneration, X-linked atrophic1 test
Malignant tumor of esophagus3 tests
Malignant tumor of prostate31 tests
Malignant tumor of testis17 tests
Malignant tumor of urinary bladder8 tests
Mandibular hypoplasia-deafness-progeroid syndrome10 tests
Mandibuloacral dysplasia6 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
Medulloblastoma26 tests
Megalencephalic leukoencephalopathy with subcortical cysts 11 test
Melanoma and neural system tumor syndrome19 tests
Melanoma, cutaneous malignant, susceptibility to, 122 tests
Melanoma, cutaneous malignant, susceptibility to, 219 tests
Melanoma, cutaneous malignant, susceptibility to, 314 tests
Melanoma, cutaneous malignant, susceptibility to, 86 tests
Melanoma, cutaneous malignant, susceptibility to, 92 tests
Melanoma-pancreatic cancer syndrome19 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 immunodeficiency12 tests
Migraine, familial hemiplegic, 11 test
Migraine, familial hemiplegic, 21 test
Migraine, familial hemiplegic, 31 test
Mismatch repair cancer syndrome 123 tests
Mitochondrial complex II deficiency, nuclear type 16 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 syndrome25 tests
Multiple congenital anomalies4 tests
Multiple endocrine neoplasia type 46 tests
Multiple endocrine neoplasia, type 19 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA7 tests
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB7 tests
Multiple epiphyseal dysplasia type 41 test
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 skeletal myopathy6 tests
Myhre syndrome15 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 carcinoma28 tests
Naxos disease5 tests
Nemaline myopathy 22 tests
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neoplasm of ovary16 tests
Neoplasm of stomach21 tests
Nephropathic cystinosis1 test
Neuroblastoma, susceptibility to, 28 tests
Neuroblastoma, susceptibility to, 34 tests
Neurofibromatosis, type 115 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 disorder7 tests
Non-ketotic hyperglycinemia1 test
Nonpapillary renal cell carcinoma13 tests
Noonan syndrome 16 tests
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 57 tests
Ocular albinism with congenital sensorineural hearing loss5 tests
Ornithine carbamoyltransferase deficiency1 test
Orofaciodigital syndrome I1 test
Osteofibrous dysplasia5 tests
Osteosarcoma30 tests
Oto-palato-digital syndrome, type I3 tests
Oto-palato-digital syndrome, type II3 tests
Pancreatic agenesis 11 test
Pancreatic cancer, susceptibility to, 224 tests
Pancreatic cancer, susceptibility to, 320 tests
Pancreatic cancer, susceptibility to, 421 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 syndrome17 tests
PHARC syndrome1 test
Phenylketonuria2 tests
Pheochromocytoma12 tests
Phosphate transport defect1 test
Pigmented nodular adrenocortical disease, primary, 15 tests
Pilomatrixoma12 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, 213 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 IB3 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, 912 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 epithelium10 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 212 tests
Rhabdomyosarcoma, embryonal, 213 tests
Rhizomelic chondrodysplasia punctata type 11 test
Rienhoff syndrome5 tests
Rippling muscle disease4 tests
Rippling muscle disease 24 tests
Sandhoff disease1 test
Schwannomatosis1 test
Schwannomatosis 16 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 34 tests
Shprintzen-Goldberg syndrome3 tests
Shwachman-Diamond syndrome 11 test
Sick sinus syndrome 16 tests
Sick sinus syndrome 2, autosomal dominant3 tests
Sick sinus syndrome 3, susceptibility to6 tests
Simpson-Golabi-Behmel syndrome type 21 test
Sitosterolemia1 test
Sjögren-Larsson syndrome1 test
Small cell lung carcinoma7 tests
Smith-Lemli-Opitz syndrome2 tests
Somatotroph adenoma4 tests
Spinal muscular atrophy2 tests
Spinocerebellar ataxia type 19/223 tests
Spondylocostal dysostosis 2, autosomal recessive1 test
Spongy degeneration of central nervous system1 test
Squamous cell carcinoma of the head and neck21 tests
Stiff skin syndrome3 tests
SUDDEN INFANT DEATH SYNDROME6 tests
Surfactant metabolism dysfunction, pulmonary, 11 test
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 Fallot5 tests
Tibial muscular dystrophy4 tests
Tietz syndrome5 tests
Timothy syndrome4 tests
Tropical pancreatitis1 test
Trypsinogen deficiency1 test
Tuberous sclerosis 19 tests
Tuberous sclerosis 29 tests
Tumor predisposition syndrome 36 tests
Turcot syndrome4 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 hydrocephalus20 tests
Velocardiofacial syndrome2 tests
Ventricular fibrillation, paroxysmal familial, type 16 tests
Ventricular septal defect 12 tests
Ventricular septal defect 35 tests
Ventricular tachycardia1 test
Very long chain acyl-CoA dehydrogenase deficiency1 test
Vitamin D-dependent rickets, type 1A1 test
Von Hippel-Lindau syndrome11 tests
Waardenburg syndrome type 2A5 tests
Weill-Marchesani syndrome 2, dominant3 tests
Werdnig-Hoffmann disease3 tests
Werner syndrome1 test
Wilms tumor 121 tests
Wilson disease2 tests
Wolff-Parkinson-White pattern5 tests
Woolly hair-skin fragility syndrome5 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

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., Number: 05D0981414, Expiration date: 2024-05-29
CAP, Number: 7154701, Expiration date: 2024-10-26

Licenses

CA - California Department of Public Health CDPH, Number: CDF00011694, Expiration date: 2024-10-17
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: 9840, Expiration date: 2024-06-30
PA - Pennsylvania Department of Health PADOH, Number: 27832A, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00680, Expiration date: 2025-12-30

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.