GeneDx

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

662 conditions/phenotypes with 161 tests
Enter text to narrow down the list

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 syndrome3 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 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
Ovarian neoplasm5 tests
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

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: 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: 2025-06-30
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.