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GTR Home > Laboratories > GeneDx

GeneDx

GTR Lab ID: 26957, Last updated:2024-04-25

Personnel

  • Director: Kathleen Hruska, PhD, FACMG, Lab Director
  • Director: Gabriele Richard, MD, FACMG, Lab Director
  • Elizabeth Butler, MS, CGC, Genetic Counselor
    Phone: 301-519-2100

Conditions and tests

  • 3-Methylglutaconic aciduria type 31 test
  • 46,XX sex reversal 11 test
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
  • 46,XY sex reversal 11 test
  • 46,XY sex reversal 31 test
  • 46,XY sex reversal 61 test
  • 46,XY sex reversal 71 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • ABCD syndrome1 test
  • Abnormal circulating lipid concentration3 tests
  • Abnormal pyramidal sign1 test
  • Abnormal thorax morphology1 test
  • Achondrogenesis2 tests
  • Achondroplasia2 tests
  • Acrocephalosyndactyly type I1 test
  • Acute myeloid leukemia1 test
  • Adams-Oliver syndrome2 tests
  • Adrenoleukodystrophy2 tests
  • Adult polyglucosan body disease1 test
  • ADULT syndrome1 test
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • Age related macular degeneration 51 test
  • Aicardi Goutieres syndrome1 test
  • Alexander disease1 test
  • Alport syndrome2 tests
  • Alstrom syndrome1 test
  • Alternating hemiplegia of childhood 21 test
  • Alzheimer disease1 test
  • Aminoglycoside-induced deafness2 tests
  • Amyotonia congenita1 test
  • Amyotrophic lateral sclerosis3 tests
  • Andersen Tawil syndrome1 test
  • Angelman syndrome3 tests
  • Angelman syndrome-like1 test
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
  • Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
  • Anteverted nares1 test
  • Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis1 test
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis1 test
  • Aplastic anemia1 test
  • Arginase deficiency1 test
  • Arrhythmogenic right ventricular cardiomyopathy12 tests
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arterial tortuosity syndrome3 tests
  • Arthrogryposis multiplex congenita1 test
  • Arthrogryposis, distal, type 1A2 tests
  • Arthrogryposis, distal, type 1B1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome1 test
  • Arts syndrome1 test
  • Asphyxiating thoracic dystrophy 11 test
  • Ataxia-telangiectasia syndrome6 tests
  • Atrophia bulborum hereditaria1 test
  • Attenuated familial adenomatous polyposis6 tests
  • Atypical Rett syndrome1 test
  • Autism spectrum disorder2 tests
  • Autosomal dominant Parkinson disease 11 test
  • Autosomal dominant Robinow syndrome 11 test
  • Autosomal recessive axonal neuropathy with neuromyotonia1 test
  • Autosomal recessive DOPA responsive dystonia1 test
  • Autosomal recessive juvenile Parkinson disease 21 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2A1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
  • Autosomal recessive multiple pterygium syndrome1 test
  • Autosomal recessive nonsyndromic hearing loss 1A1 test
  • Autosomal recessive polycystic kidney disease2 tests
  • Axial hypotonia1 test
  • Azorean disease2 tests
  • Bannayan-Riley-Ruvalcaba syndrome5 tests
  • Baraitser-Winter syndrome1 test
  • Bartter syndrome1 test
  • Basal cell carcinoma, susceptibility to, 11 test
  • Beare-Stevenson cutis gyrata syndrome1 test
  • Becker muscular dystrophy1 test
  • Bent bone dysplasia syndrome 11 test
  • Bethlem myopathy 1A1 test
  • Bilateral frontoparietal polymicrogyria1 test
  • Biotinidase deficiency1 test
  • Birt-Hogg-Dube syndrome1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
  • Bone osteosarcoma1 test
  • Brachycephaly1 test
  • Brachyrachia (short spine dysplasia)1 test
  • Branchiooculofacial syndrome1 test
  • Branchiootic syndrome 11 test
  • Branchiootorenal syndrome 11 test
  • Breast and colorectal cancer, susceptibility to5 tests
  • Breast and/or ovarian cancer5 tests
  • Breast cancer, early-onset7 tests
  • Breast cancer, familial male6 tests
  • Breast cancer, susceptibility to7 tests
  • Breast lobular carcinoma5 tests
  • Breast neoplasm5 tests
  • Breast-ovarian cancer, familial, susceptibility to, 19 tests
  • Breast-ovarian cancer, familial, susceptibility to, 29 tests
  • Breast-ovarian cancer, familial, susceptibility to, 41 test
  • Brittle cornea syndrome 12 tests
  • Bruck syndrome1 test
  • Bruck syndrome 21 test
  • Brugada syndrome10 tests
  • Bulbous nose1 test
  • Calcaneovalgus deformity1 test
  • Camptodactyly1 test
  • Camptomelic dysplasia1 test
  • CARASIL syndrome1 test
  • Carcinoma of colon6 tests
  • Carcinoma of pancreas4 tests
  • Cardio-facio-cutaneous syndrome1 test
  • Cardiomyopathy2 tests
  • Carney-Stratakis syndrome3 tests
  • Cataract1 test
  • Catecholaminergic polymorphic ventricular tachycardia9 tests
  • CDC73-related disorder1 test
  • Cenani-Lenz syndactyly syndrome1 test
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome1 test
  • Cerebellar atrophy1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral atrophy1 test
  • Cerebrooculofacioskeletal syndrome 11 test
  • Charcot-Marie-Tooth disease3 tests
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease dominant intermediate D1 test
  • Charcot-Marie-Tooth disease type 1B1 test
  • Charcot-Marie-Tooth disease type 1D1 test
  • Charcot-Marie-Tooth disease type 2I1 test
  • Charcot-Marie-Tooth disease type 2J1 test
  • Charcot-Marie-Tooth disease type 4E1 test
  • Charcot-Marie-Tooth disease X-linked recessive 51 test
  • CHARGE association3 tests
  • Child syndrome2 tests
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Cholestanol storage disease3 tests
  • Chondrodysplasia punctata2 tests
  • Chromosome 1p36 deletion syndrome1 test
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chudley-McCullough syndrome1 test
  • Ciliopathy1 test
  • Classic homocystinuria2 tests
  • Clear cell carcinoma of kidney1 test
  • Cleft palate1 test
  • Clubfoot1 test
  • COACH syndrome 11 test
  • Cobblestone lissencephaly without muscular or ocular involvement1 test
  • Cockayne syndrome1 test
  • Cockayne syndrome type 21 test
  • Coenzyme Q10 deficiency1 test
  • Coffin-Siris syndrome2 tests
  • Coffin-Siris syndrome 11 test
  • Coffin-Siris syndrome 51 test
  • Colorectal cancer4 tests
  • Colorectal cancer, hereditary nonpolyposis, type 25 tests
  • Colorectal cancer, susceptibility to, 124 tests
  • Complex V deficiency1 test
  • Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency1 test
  • Congenital adrenal hypoplasia, X-linked1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
  • Congenital contractural arachnodactyly4 tests
  • Congenital contracture1 test
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
  • Congenital ichthyosis of skin1 test
  • Congenital muscular dystrophy with hyperlaxity1 test
  • Congenital myasthenic syndrome 101 test
  • Congenital myasthenic syndrome 121 test
  • Congenital myasthenic syndrome 131 test
  • Congenital myasthenic syndrome 161 test
  • Congenital myasthenic syndrome 4C1 test
  • Congenital myasthenic syndrome 51 test
  • Congenital myasthenic syndrome 81 test
  • Congenital myopathy 231 test
  • Congenital myopathy 4B, autosomal recessive1 test
  • Congenital myopathy with fiber type disproportion1 test
  • Congenital myotonia, autosomal dominant form1 test
  • Congenital myotonia, autosomal recessive form1 test
  • Congenital pontocerebellar hypoplasia type 11 test
  • Constipation1 test
  • Costello syndrome1 test
  • Cowden syndrome4 tests
  • Cowden syndrome 14 tests
  • Craniometadiaphyseal dysplasia wormian bone type1 test
  • Craniosynostosis syndrome1 test
  • Crouzon syndrome1 test
  • Cryptorchidism1 test
  • Cutis laxa2 tests
  • Cyclical neutropenia2 tests
  • Cystic fibrosis1 test
  • DDX41-related hematologic malignancy predisposition syndrome1 test
  • De Lange syndrome1 test
  • DE SANCTIS-CACCHIONE SYNDROME1 test
  • Deafness dystonia syndrome1 test
  • Deafness with labyrinthine aplasia, microtia, and microdontia1 test
  • Deafness, autosomal dominant 39, with dentinogenesis imperfecta 11 test
  • Deafness-infertility syndrome1 test
  • Decreased fetal movement1 test
  • Decreased motor nerve conduction velocity1 test
  • Deficiency of steroid 17-alpha-monooxygenase2 tests
  • Dejerine-Sottas disease1 test
  • Delayed speech and language development1 test
  • Dementia1 test
  • Desmosterolosis1 test
  • Developmental and epileptic encephalopathy, 421 test
  • Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities1 test
  • Diabetes-deafness syndrome maternally transmitted2 tests
  • Dilated cardiomyopathy 1X1 test
  • Distal arthrogryposis1 test
  • DOORS syndrome1 test
  • DPAGT1-congenital disorder of glycosylation1 test
  • Drash syndrome1 test
  • Duane-radial ray syndrome1 test
  • Duchenne muscular dystrophy1 test
  • Dyskeratosis congenita1 test
  • Dysphagia1 test
  • Dyssynergia2 tests
  • Dystonia 121 test
  • Dystonia 161 test
  • Dystonia 241 test
  • Dystonia 52 tests
  • Dystonia 91 test
  • Dystonic disorder3 tests
  • Early-onset generalized limb-onset dystonia1 test
  • EAST syndrome1 test
  • Ectrodactyly1 test
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
  • Ehlers-Danlos syndrome6 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, type 45 tests
  • Elbow flexion contracture1 test
  • Elevated circulating creatine kinase concentration1 test
  • Encephalopathy due to GLUT1 deficiency1 test
  • Endometrial carcinoma5 tests
  • Epidermolysis bullosa1 test
  • Epilepsy3 tests
  • Episodic ataxia type 21 test
  • Episodic kinesigenic dyskinesia 11 test
  • Euthyroid goiter1 test
  • Fabry disease1 test
  • Facial palsy1 test
  • Familial adenomatous polyposis 16 tests
  • Familial adenomatous polyposis 25 tests
  • Familial amyloid nephropathy with urticaria AND deafness2 tests
  • Familial amyloid neuropathy1 test
  • Familial aplasia of the vermis2 tests
  • Familial cancer of breast9 tests
  • Familial cold autoinflammatory syndrome1 test
  • Familial cold autoinflammatory syndrome 11 test
  • Familial colorectal cancer7 tests
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysautonomia1 test
  • Familial infantile myasthenia1 test
  • Familial Mediterranean fever1 test
  • Familial meningioma1 test
  • Familial ovarian carcinoma2 tests
  • Familial pancreatic carcinoma2 tests
  • Familial prostate carcinoma5 tests
  • Familial scaphocephaly syndrome, McGillivray type1 test
  • Familial spontaneous pneumothorax1 test
  • Familial thoracic aortic aneurysm and aortic dissection5 tests
  • Fanconi anemia complementation group D17 tests
  • Fanconi anemia complementation group J5 tests
  • Fanconi anemia complementation group N6 tests
  • Feeding difficulties1 test
  • Feingold syndrome1 test
  • Fetal akinesia deformation sequence 12 tests
  • Fetal akinesia deformation sequence 21 test
  • FG syndrome 11 test
  • FG syndrome 21 test
  • Fibrochondrogenesis 15 tests
  • Flexion contracture1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 11 test
  • Fragile X syndrome1 test
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Freeman-Sheldon syndrome1 test
  • Frontometaphyseal dysplasia 11 test
  • Frontotemporal dementia2 tests
  • Full cheeks1 test
  • Furrowed tongue1 test
  • Galactosemia1 test
  • Galactosylceramide beta-galactosidase deficiency1 test
  • Gardner syndrome4 tests
  • Gastroesophageal reflux1 test
  • Gastrointestinal stromal tumor1 test
  • Gaucher disease perinatal lethal1 test
  • Gaucher disease type I1 test
  • Gaucher disease type II1 test
  • Gaucher disease type III1 test
  • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
  • Generalized epilepsy with febrile seizures plus, type 21 test
  • Generalized juvenile polyposis/juvenile polyposis coli3 tests
  • Genitopatellar syndrome1 test
  • Gillespie syndrome1 test
  • Global developmental delay1 test
  • Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
  • Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form1 test
  • Glycogen storage disease, type IV1 test
  • GM1 gangliosidosis1 test
  • Gordon syndrome1 test
  • Gorlin syndrome1 test
  • Greenberg dysplasia1 test
  • Hartsfield-Bixler-Demyer syndrome1 test
  • Hb SS disease2 tests
  • Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
  • Hereditary breast ovarian cancer syndrome7 tests
  • Hereditary cancer-predisposing syndrome4 tests
  • Hereditary diffuse gastric adenocarcinoma4 tests
  • Hereditary disease29 tests
  • Hereditary hearing loss and deafness1 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary motor and sensory neuropathy1 test
  • Hereditary pancreatitis2 tests
  • Hereditary pheochromocytoma-paraganglioma1 test
  • Hereditary sensory and autonomic neuropathy1 test
  • Hereditary sensory and autonomic neuropathy type 11 test
  • Hereditary sensory and autonomic neuropathy type 21 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary spastic paraplegia 491 test
  • Hidrotic ectodermal dysplasia syndrome1 test
  • High myopia-sensorineural deafness syndrome1 test
  • Highly arched eyebrow1 test
  • Hip contracture1 test
  • Holoprosencephaly 71 test
  • Holoprosencephaly sequence1 test
  • Holt-Oram syndrome1 test
  • Homocystinuria1 test
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Huppke-Brendel syndrome1 test
  • Hypercholesterolemia, familial, 14 tests
  • Hyperekplexia 11 test
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperkalemic periodic paralysis1 test
  • Hyperlordosis1 test
  • Hyperparathyroidism 11 test
  • Hyperparathyroidism 2 with jaw tumors1 test
  • Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
  • Hyperphosphatasia with intellectual disability syndrome 11 test
  • Hypertrophic cardiomyopathy5 tests
  • Hypochondroplasia1 test
  • Hypogonadism with anosmia2 tests
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 2 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 7 with or without anosmia1 test
  • Hypokalemic periodic paralysis, type 12 tests
  • Hypokalemic periodic paralysis, type 22 tests
  • Hypokinesia1 test
  • Hypomyelinating leukodystrophy 61 test
  • Hypomyelination and Congenital Cataract1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypoplastic labia majora1 test
  • Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration1 test
  • Hypotonia1 test
  • Hypotonia, ataxia, and delayed development syndrome1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Idiopathic hypereosinophilic syndrome1 test
  • Inborn mitochondrial myopathy1 test
  • Infantile convulsions and choreoathetosis1 test
  • Infantile-onset X-linked spinal muscular atrophy1 test
  • Inguinal hernia1 test
  • Intellectual disability3 tests
  • Isolated coronal synostosis1 test
  • Isolated microcephaly1 test
  • Jackson-Weiss syndrome1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile polyposis syndrome1 test
  • Kearns-Sayre syndrome1 test
  • Keratitis ichthyosis and deafness syndrome1 test
  • Keutel syndrome1 test
  • Knee flexion contracture1 test
  • Krabbe disease due to saposin A deficiency1 test
  • Lactic acidosis1 test
  • Langer-Giedion syndrome1 test
  • Leber hereditary optic neuropathy, autosomal recessive1 test
  • Leber optic atrophy1 test
  • Left ventricular noncompaction cardiomyopathy4 tests
  • Legius syndrome1 test
  • Leigh syndrome1 test
  • Lethal arthrogryposis-anterior horn cell disease syndrome1 test
  • Lethal congenital contracture syndrome 41 test
  • Lethal multiple pterygium syndrome2 tests
  • Lethal tight skin contracture syndrome1 test
  • Leukodystrophy1 test
  • Levy-Hollister syndrome2 tests
  • Lewy body dementia1 test
  • Li-Fraumeni syndrome5 tests
  • Li-Fraumeni syndrome 14 tests
  • Li-Fraumeni syndrome 21 test
  • Lissencephaly2 tests
  • Lissencephaly 41 test
  • Lissencephaly 6 with microcephaly1 test
  • Lissencephaly 81 test
  • Lissencephaly due to LIS1 mutation1 test
  • Lissencephaly type 1 due to doublecortin gene mutation1 test
  • Lissencephaly type 31 test
  • Loeys-Dietz syndrome3 tests
  • Long philtrum1 test
  • Long QT syndrome10 tests
  • Low-set ears1 test
  • Lung carcinoma1 test
  • Lynch syndrome6 tests
  • Lynch syndrome 16 tests
  • Lynch syndrome 45 tests
  • Lynch syndrome 55 tests
  • Lynch syndrome 85 tests
  • Macrocephaly1 test
  • Macrotia1 test
  • Majeed syndrome1 test
  • Malignant hyperthermia, susceptibility to, 51 test
  • Malignant tumor of prostate6 tests
  • Marden-Walker syndrome1 test
  • Marfan syndrome6 tests
  • Marshall syndrome4 tests
  • Maturity onset diabetes mellitus in young1 test
  • Meckel-Gruber syndrome1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Medulloblastoma1 test
  • Megalocornea-intellectual disability syndrome1 test
  • Melanoma, cutaneous malignant, susceptibility to, 12 tests
  • Melanoma, cutaneous malignant, susceptibility to, 23 tests
  • Melanoma, cutaneous malignant, susceptibility to, 33 tests
  • Melanoma, cutaneous malignant, susceptibility to, 81 test
  • Melanoma-pancreatic cancer syndrome4 tests
  • Menkes kinky-hair syndrome1 test
  • MERRF syndrome1 test
  • Metabolic myopathy1 test
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal anadysplasia1 test
  • Metatropic dysplasia1 test
  • Methylmalonic acidemia1 test
  • Methylmalonic aciduria, cblB type1 test
  • Microcephaly, normal intelligence and immunodeficiency4 tests
  • Micrognathia1 test
  • Migraine, familial hemiplegic, 11 test
  • Migraine, familial hemiplegic, 21 test
  • Migraine, familial hemiplegic, 31 test
  • Miller Dieker syndrome1 test
  • Mismatch repair cancer syndrome 16 tests
  • Mitochondrial complex I deficiency1 test
  • Mitochondrial complex III deficiency nuclear type 11 test
  • Mitochondrial complex IV deficiency, nuclear type 11 test
  • Mitochondrial disease2 tests
  • Mitochondrial DNA Deletion Syndromes1 test
  • Mitochondrial neurogastrointestinal encephalomyopathy1 test
  • Mowat-Wilson syndrome1 test
  • Muir-Torré syndrome7 tests
  • Multiple endocrine neoplasia type 41 test
  • Multiple epiphyseal dysplasia3 tests
  • Multiple sulfatase deficiency1 test
  • Muscular atrophy1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
  • Mutilating keratoderma1 test
  • Myasthenic syndrome, congenital, 1B, fast-channel1 test
  • Myasthenic syndrome, slow-channel congenital1 test
  • Myelodysplastic syndrome2 tests
  • Myofibrillar myopathy1 test
  • Myopathy, centronuclear, 21 test
  • Myopathy, proximal, and ophthalmoplegia1 test
  • Myosclerosis1 test
  • Myotonic dystrophy1 test
  • Myotonic dystrophy type 21 test
  • NARP syndrome1 test
  • Nemaline bodies1 test
  • Nemaline myopathy1 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 51 test
  • Neoplasm of ovary5 tests
  • Neoplasm of stomach6 tests
  • Nephrocalcinosis1 test
  • Nephrolithiasis1 test
  • Nephrotic syndrome1 test
  • Neuroblastoma, susceptibility to, 21 test
  • Neurodevelopmental disorder with hypotonia, neuropathy, and deafness1 test
  • Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements1 test
  • Neurofibroma1 test
  • Neurofibromatosis, type 15 tests
  • Neurofibromatosis, type 22 tests
  • Neurofibromatosis-Noonan syndrome4 tests
  • Neuromuscular disease1 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 81 test
  • Nonpapillary renal cell carcinoma2 tests
  • Nonsyndromic Deafness1 test
  • Noonan syndrome5 tests
  • Noonan syndrome 101 test
  • Norman-Roberts syndrome1 test
  • Nystagmus1 test
  • Ocular albinism with congenital sensorineural hearing loss1 test
  • Ocular albinism with late-onset sensorineural deafness1 test
  • Oculopharyngeal muscular dystrophy1 test
  • Optic atrophy2 tests
  • Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
  • Orofaciodigital syndrome type 61 test
  • Osteogenesis imperfecta4 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant3 tests
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
  • Ovarian cancer7 tests
  • Ovarian dysgenesis 11 test
  • Ovarian dysgenesis 21 test
  • Ovarioleukodystrophy1 test
  • Pancreatic cancer, susceptibility to, 15 tests
  • Pancreatic cancer, susceptibility to, 25 tests
  • Pancreatic cancer, susceptibility to, 31 test
  • Pancreatic cancer, susceptibility to, 46 tests
  • Pancreatitis1 test
  • Pancreatitis, chronic, susceptibility to1 test
  • Paragangliomas 13 tests
  • Parastremmatic dwarfism1 test
  • Parathyroid carcinoma1 test
  • Parkes Weber syndrome2 tests
  • Parkinson disease4 tests
  • Paroxysmal extreme pain disorder1 test
  • Pearson syndrome1 test
  • Pectus carinatum1 test
  • Pelviscapular dysplasia1 test
  • Pendred syndrome1 test
  • Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
  • Periventricular nodular heterotopia1 test
  • Permanent neonatal diabetes mellitus1 test
  • Perrault syndrome2 tests
  • Peutz-Jeghers syndrome4 tests
  • Pfeiffer syndrome1 test
  • Phenylketonuria1 test
  • Pheochromocytoma3 tests
  • Phytanic acid storage disease1 test
  • Pigmentary pallidal degeneration1 test
  • Pitt-Hopkins syndrome1 test
  • Pleuropulmonary blastoma1 test
  • Polycystic kidney disease 21 test
  • Polycystic kidney disease 3 with or without polycystic liver disease1 test
  • Polycystic kidney disease, adult type2 tests
  • Pontocerebellar hypoplasia type 1B1 test
  • Pontocerebellar hypoplasia type 2A1 test
  • Pontocerebellar hypoplasia type 42 tests
  • Potassium-aggravated myotonia1 test
  • Prader-Willi syndrome3 tests
  • Premature ovarian failure1 test
  • Primary dilated cardiomyopathy5 tests
  • Prion disease1 test
  • Progressive1 test
  • Progressive external ophthalmoplegia1 test
  • Prominent forehead1 test
  • Prostate cancer, hereditary, 12 tests
  • Prostate cancer, hereditary, 91 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome1 test
  • PTEN hamartoma tumor syndrome1 test
  • Pterin-4 alpha-carbinolamine dehydratase 1 deficiency1 test
  • Pursed lips1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Qualitative or quantitative defects of alpha-dystroglycan1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Rapadilino syndrome4 tests
  • RASopathy1 test
  • Reduced eye contact1 test
  • Renal carnitine transport defect1 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Respiratory failure1 test
  • Rett syndrome1 test
  • Rhabdomyosarcoma, embryonal, 21 test
  • Riboflavin transporter deficiency1 test
  • Rienhoff syndrome1 test
  • Roberts-SC phocomelia syndrome1 test
  • Round face1 test
  • Roussy-Lévy syndrome1 test
  • Rubinstein-Taybi syndrome1 test
  • Saethre-Chotzen syndrome1 test
  • Schinzel phocomelia syndrome1 test
  • Schwannomatosis2 tests
  • Schwannomatosis 11 test
  • Schwannomatosis 21 test
  • Schwartz-Jampel syndrome1 test
  • Scoliosis1 test
  • Seckel syndrome1 test
  • Seizure1 test
  • Seizures, benign familial infantile, 21 test
  • Sensorineural hearing loss disorder2 tests
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
  • Severe congenital neutropenia1 test
  • Severe myoclonic epilepsy in infancy1 test
  • Severe X-linked myotubular myopathy1 test
  • Short columella1 test
  • Short neck1 test
  • Short nose1 test
  • Short QT syndrome9 tests
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Sinoatrial node dysfunction and deafness1 test
  • Skeletal dysplasia2 tests
  • Slender nose1 test
  • Small fiber neuropathy1 test
  • Smith-Magenis syndrome1 test
  • Smooth philtrum1 test
  • Sodium serum level quantitative trait locus 11 test
  • Sotos syndrome1 test
  • Spastic tetraplegia1 test
  • Spinal muscular atrophy1 test
  • Spinocerebellar ataxia 73 tests
  • Spinocerebellar ataxia type 14 tests
  • Spinocerebellar ataxia type 22 tests
  • Spinocerebellar ataxia type 63 tests
  • Spinocerebellar ataxia type 82 tests
  • Split hand-foot malformation 11 test
  • Split hand-foot malformation 41 test
  • Spondylocostal dysostosis1 test
  • Spondyloepimetaphyseal dysplasia, Maroteaux type1 test
  • Spondyloepiphyseal dysplasia congenita1 test
  • Spondylometaphyseal dysplasia, Kozlowski type1 test
  • Spongy degeneration of central nervous system1 test
  • Stargardt disease1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome4 tests
  • Strabismus, susceptibility to1 test
  • Sudden cardiac arrest2 tests
  • Sulfate transporter-related osteochondrodysplasia1 test
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thin upper lip vermilion1 test
  • Thrombocytopenia 51 test
  • Thumbs, congenital Clasped1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 11 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Torsion dystonia 41 test
  • Townes syndrome2 tests
  • Triangular face1 test
  • Tuberous sclerosis 14 tests
  • Tuberous sclerosis 24 tests
  • Tuberous sclerosis syndrome3 tests
  • TWIST1-related craniosynostosis1 test
  • Ullrich congenital muscular dystrophy 1A1 test
  • Ulnar-mammary syndrome1 test
  • Umbilical hernia1 test
  • Usher syndrome1 test
  • Usher syndrome type 11 test
  • Usher syndrome type 1C1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 2A1 test
  • Usher syndrome type 2C1 test
  • Usher syndrome type 2D1 test
  • Usher syndrome type 31 test
  • UV-sensitive syndrome 11 test
  • Vanishing white matter disease1 test
  • Velocardiofacial syndrome1 test
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Visceral myopathy 11 test
  • Von Hippel-Lindau syndrome4 tests
  • Waardenburg syndrome1 test
  • Walker-Warburg congenital muscular dystrophy2 tests
  • Wide mouth1 test
  • Wide nasal bridge1 test
  • Wieacker-Wolff syndrome, female-restricted1 test
  • Williams syndrome1 test
  • Wilms tumor 11 test
  • Wolff-Parkinson-White pattern1 test
  • X-linked intellectual disability with marfanoid habitus1 test
  • X-linked lissencephaly with abnormal genitalia1 test
  • Xeroderma pigmentosum, group G1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Carrier testing
  • Uniparental Disomy (UPD) Testing
  • Whole Exome Sequencing

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 21D0969951, Expiration date: 2024-12-09
  • CAP, Number: 7205671, Expiration date: 2026-03-31

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS00800286, Expiration date: 2024-08-31
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 953, Effective date: 2020-04-20 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: PFI# 8374, Expiration date: 2024-06-30
  • PA - Pennsylvania Department of Health PADOH, Number: 029524A, Expiration date: 2024-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00564, Expiration date: 2024-12-30

Participation in external programs

Standardization programs

  • CETT Program (Collaboration Education and Test Translation)
  • ISCA Consortium (International Standards for Cytogenomic Arrays)

Data exchange Programs

  • CETT Program (Collaboration Education and Test Translation)
  • ICCG (International Collaboration for Clinical Genetics) - Previously ISCA

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.