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GTR Home > Laboratories > Ambry Genetics

Ambry Genetics

GTR Lab ID: 61756, Last updated:2024-06-03

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

  • 3-Methylglutaconic aciduria type 24 tests
  • 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
  • Alagille syndrome due to a JAG1 point mutation2 tests
  • Amyloidosis, hereditary systemic 17 tests
  • Andersen Tawil syndrome3 tests
  • Aneurysm-osteoarthritis syndrome3 tests
  • 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
  • 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
  • Ataxia-telangiectasia syndrome20 tests
  • Ataxia-telangiectasia-like disorder9 tests
  • 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 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 975 tests
  • Bannayan-Riley-Ruvalcaba syndrome21 tests
  • BAP1-related tumor predisposition syndrome9 tests
  • Basal cell carcinoma, susceptibility to, 18 tests
  • Basal cell carcinoma, susceptibility to, 728 tests
  • Becker muscular dystrophy5 tests
  • Birt-Hogg-Dube syndrome6 tests
  • Blepharocheilodontic syndrome14 tests
  • Blepharophimosis - intellectual disability syndrome, MKB type3 tests
  • Bloom syndrome2 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
  • 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
  • Choroid plexus papilloma28 tests
  • Chuvash polycythemia10 tests
  • 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
  • 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 muscular dystrophy due to LMNA mutation6 tests
  • Conotruncal heart malformations5 tests
  • Cowden syndrome8 tests
  • Cowden syndrome 122 tests
  • Cowden syndrome 37 tests
  • Cystic fibrosis4 tests
  • Danon disease6 tests
  • Desmin-related myofibrillar myopathy4 tests
  • Desmoid disease, hereditary17 tests
  • 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
  • DICER1-related tumor predisposition12 tests
  • DiGeorge syndrome2 tests
  • 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 dystrophy5 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, X-linked1 test
  • Early-onset myopathy with fatal cardiomyopathy4 tests
  • Ehlers-Danlos syndrome, classic type, 13 tests
  • Ehlers-Danlos syndrome, kyphoscoliotic type 13 tests
  • Ehlers-Danlos syndrome, type 43 tests
  • Elevated circulating creatine kinase concentration4 tests
  • 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
  • Epilepsy, idiopathic generalized, susceptibility to, 121 test
  • Episodic ataxia type 61 test
  • Episodic pain syndrome, familial, 21 test
  • Fabry disease5 tests
  • Familial adenomatous polyposis 118 tests
  • Familial adenomatous polyposis 213 tests
  • Familial adenomatous polyposis 32 tests
  • Familial atrial myxoma5 tests
  • Familial cancer of breast38 tests
  • Familial chylomicronemia syndrome1 test
  • Familial colorectal cancer2 tests
  • Familial hyperaldosteronism type III2 tests
  • Familial hypercholesterolemia1 test
  • Familial hypobetalipoproteinemia 11 test
  • Familial medullary thyroid carcinoma7 tests
  • Familial meningioma23 tests
  • Familial partial lipodystrophy, Dunnigan type6 tests
  • Familial prostate cancer2 tests
  • Familial spontaneous pneumothorax6 tests
  • Fanconi anemia complementation group C2 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
  • Fragile X syndrome1 test
  • Friedreich ataxia 15 tests
  • Frontometaphyseal dysplasia3 tests
  • Fumarase deficiency8 tests
  • Gastrointestinal stromal tumor8 tests
  • 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
  • Glucocorticoid deficiency 54 tests
  • Gorlin syndrome5 tests
  • 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 disease17 tests
  • Hereditary hemorrhagic telangiectasia1 test
  • Hereditary leiomyomatosis and renal cell cancer9 tests
  • Hereditary nonpolyposis colon cancer1 test
  • Hereditary pancreatitis4 tests
  • Heterotopia, periventricular, X-linked dominant3 tests
  • Hirschsprung disease, susceptibility to, 17 tests
  • Holoprosencephaly 76 tests
  • Holt-Oram syndrome3 tests
  • Hutchinson-Gilford syndrome6 tests
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 41 test
  • HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED3 tests
  • Hyperinsulinism due to glucokinase deficiency1 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
  • 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
  • Jervell and Lange-Nielsen syndrome 14 tests
  • Jervell and Lange-Nielsen syndrome 24 tests
  • Joubert syndrome 101 test
  • Joubert syndrome 325 tests
  • Juvenile myelomonocytic leukemia6 tests
  • Juvenile polyposis syndrome16 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome17 tests
  • Kartagener syndrome1 test
  • Keratosis palmoplantaris striata 25 tests
  • 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
  • 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
  • Marfan syndrome3 tests
  • 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
  • Medulloblastoma26 tests
  • 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
  • Metachondromatosis6 tests
  • Microcephaly, normal intelligence and immunodeficiency11 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
  • Moyamoya disease 53 tests
  • Muir-TorrĂ© syndrome25 tests
  • Multiple congenital anomalies4 tests
  • Multiple endocrine neoplasia type 2A7 tests
  • Multiple endocrine neoplasia type 2B7 tests
  • Multiple endocrine neoplasia type 46 tests
  • Multiple endocrine neoplasia, type 19 tests
  • Multiple self-healing squamous epithelioma3 tests
  • Multisystemic smooth muscle dysfunction syndrome3 tests
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 44 tests
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B44 tests
  • 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
  • Neoplasm of stomach21 tests
  • Neuroblastoma, susceptibility to, 28 tests
  • Neuroblastoma, susceptibility to, 34 tests
  • Neurofibromatosis, type 115 tests
  • Neurofibromatosis, type 27 tests
  • Neurogenic scapuloperoneal syndrome, Kaeser type4 tests
  • Nijmegen breakage syndrome-like disorder7 tests
  • 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
  • Orofaciodigital syndrome I1 test
  • Osteofibrous dysplasia5 tests
  • Osteosarcoma30 tests
  • Oto-palato-digital syndrome, type I3 tests
  • Oto-palato-digital syndrome, type II3 tests
  • Ovarian neoplasm16 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
  • Permanent neonatal diabetes mellitus1 test
  • Peutz-Jeghers syndrome17 tests
  • PHARC syndrome1 test
  • Pheochromocytoma12 tests
  • Pigmented nodular adrenocortical disease, primary, 15 tests
  • Pilomatrixoma12 tests
  • Polyposis syndrome, hereditary mixed, 213 tests
  • 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 31 test
  • Primary ciliary dyskinesia 61 test
  • Primary ciliary dyskinesia 71 test
  • Primary ciliary dyskinesia 91 test
  • Primary dilated cardiomyopathy1 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome3 tests
  • Progressive familial heart block type IB3 tests
  • Progressive familial heart block, type 1A6 tests
  • Prostate cancer, hereditary, 912 tests
  • 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
  • Renal cell carcinoma6 tests
  • Renal cysts and diabetes syndrome1 test
  • Retinal dystrophy, reticular pigmentary, of posterior pole10 tests
  • Retinitis pigmentosa 231 test
  • Retinitis pigmentosa 31 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
  • Rienhoff syndrome5 tests
  • Rippling muscle disease4 tests
  • Rippling muscle disease 24 tests
  • Schwannomatosis1 test
  • Schwannomatosis 16 tests
  • 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
  • Small cell lung carcinoma7 tests
  • Somatotroph adenoma4 tests
  • Spinocerebellar ataxia type 19/223 tests
  • 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
  • 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
  • Type 1 diabetes mellitus 201 test
  • Type 2 diabetes mellitus1 test
  • 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
  • Von Hippel-Lindau syndrome11 tests
  • Waardenburg syndrome type 2A5 tests
  • Weill-Marchesani syndrome 2, dominant3 tests
  • Wilms tumor 121 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 intellectual disability with marfanoid habitus3 tests

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

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.