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

918 conditions/phenotypes with 292 tests
Enter text to narrow down the list

11p partial monosomy syndrome1 test
3-methylglutaconic aciduria type 11 test
3-Methylglutaconic aciduria type 21 test
3-Methylglutaconic aciduria type 31 test
46,XX sex reversal 12 tests
46,XY disorder of sex development1 test
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome1 test
46,XY sex reversal 12 tests
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
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency1 test
ABCD syndrome1 test
Abnormal circulating lipid concentration3 tests
Abnormal maternal serum screening1 test
Abnormal pyramidal sign1 test
Abnormal thorax morphology1 test
Achondrogenesis2 tests
Achondroplasia2 tests
Achromatopsia1 test
Acrocephalosyndactyly type I1 test
Acrodysostosis 1 with or without hormone resistance1 test
Acute myeloid leukemia1 test
Adams-Oliver syndrome3 tests
Adenylosuccinate lyase deficiency1 test
Adrenoleukodystrophy2 tests
Adult polyglucosan body disease1 test
ADULT syndrome1 test
Adult-onset autosomal dominant demyelinating leukodystrophy1 test
Advanced maternal age1 test
Age related macular degeneration 51 test
Aicardi Goutieres syndrome2 tests
Alexander disease2 tests
Alport syndrome2 tests
Alstrom syndrome1 test
Alternating hemiplegia of childhood 21 test
Alzheimer disease1 test
Aminoglycoside-induced deafness4 tests
Amyotonia congenita1 test
Amyotrophic lateral sclerosis3 tests
Anauxetic dysplasia 12 tests
Andersen Tawil syndrome1 test
Androgen resistance syndrome1 test
Angelman syndrome3 tests
Angelman syndrome-like2 tests
Aniridia 11 test
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome1 test
Annular epidermolytic ichthyosis1 test
Anophthalmia/microphthalmia-esophageal atresia syndrome2 tests
Anteverted nares1 test
Antley-Bixler syndrome1 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 deficiency2 tests
Argininosuccinate lyase deficiency1 test
Arrhythmogenic right ventricular cardiomyopathy14 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
Aspartylglucosaminuria1 test
Asphyxiating thoracic dystrophy 11 test
Ataxia-telangiectasia syndrome6 tests
Atrophia bulborum hereditaria1 test
Attenuated familial adenomatous polyposis6 tests
Atypical Rett syndrome4 tests
Autism spectrum disorder2 tests
Autosomal dominant hypophosphatemic rickets1 test
Autosomal dominant nonsyndromic hearing loss 61 test
Autosomal dominant Parkinson disease 11 test
Autosomal dominant retinitis pigmentosa1 test
Autosomal dominant Robinow syndrome 11 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive DOPA responsive dystonia1 test
Autosomal recessive inherited pseudoxanthoma elasticum2 tests
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
Autosomal recessive retinitis pigmentosa1 test
Axial hypotonia1 test
Azorean disease2 tests
Bannayan-Riley-Ruvalcaba syndrome6 tests
Baraitser-Winter syndrome1 test
Bardet-Biedl syndrome1 test
Bartter syndrome2 tests
Basal cell carcinoma, susceptibility to, 12 tests
Beare-Stevenson cutis gyrata syndrome1 test
Becker muscular dystrophy1 test
Benign neonatal seizures3 tests
Bent bone dysplasia syndrome 11 test
Bethlem myopathy 1A1 test
Bilateral frontoparietal polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency2 tests
Birt-Hogg-Dube syndrome1 test
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Bloom syndrome1 test
Bone osteosarcoma1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Brachycephaly1 test
Brachyrachia (short spine dysplasia)1 test
Brain malformation1 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-onset10 tests
Breast cancer, familial male9 tests
Breast cancer, susceptibility to10 tests
Breast lobular carcinoma5 tests
Breast neoplasm5 tests
Breast-ovarian cancer, familial, susceptibility to, 112 tests
Breast-ovarian cancer, familial, susceptibility to, 212 tests
Breast-ovarian cancer, familial, susceptibility to, 41 test
Brittle cornea syndrome 12 tests
Bruck syndrome1 test
Bruck syndrome 21 test
Brugada syndrome13 tests
Bulbous nose1 test
Bullous ichthyosiform erythroderma1 test
Calcaneovalgus deformity1 test
Camptodactyly1 test
Camptomelic dysplasia1 test
CARASIL syndrome1 test
Carcinoma of colon6 tests
Carcinoma of pancreas7 tests
Cardio-facio-cutaneous syndrome1 test
Cardiomyopathy2 tests
Carney complex, type 11 test
Carney-Stratakis syndrome3 tests
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Cataract1 test
Catecholaminergic polymorphic ventricular tachycardia11 tests
CDC73-Related Disorders1 test
Cenani-Lenz syndactyly syndrome2 tests
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
Cerebral creatine deficiency syndrome1 test
Cerebral folate transport deficiency1 test
Cerebral palsy1 test
Cerebrooculofacioskeletal syndrome 11 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Charcot-Marie-Tooth disease4 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 association5 tests
Child syndrome3 tests
Childhood onset GLUT1 deficiency syndrome 21 test
Cholestanol storage disease3 tests
Chondrodysplasia punctata2 tests
Choroideremia1 test
Chromosome 1p36 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome3 tests
Chudley-McCullough syndrome1 test
Ciliopathy2 tests
Citrullinemia type I1 test
Citrullinemia type II1 test
Classic homocystinuria3 tests
Clear cell carcinoma of kidney1 test
Cleft palate1 test
Clubfoot1 test
COACH syndrome 11 test
Cobalamin C disease1 test
Cobblestone lissencephaly without muscular or ocular involvement1 test
Cockayne syndrome1 test
Cockayne syndrome type 21 test
Coenzyme Q10 deficiency2 tests
Coffin-Siris syndrome3 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
Combined immunodeficiency due to DOCK8 deficiency1 test
Combined malonic and methylmalonic acidemia1 test
Combined oxidative phosphorylation deficiency1 test
Combined PSAP deficiency1 test
Complex V deficiency2 tests
Cone-rod dystrophy1 test
Cone-rod dystrophy 21 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 cerebellar hypoplasia1 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 syndrome1 test
Congenital myasthenic syndrome 102 tests
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 myopathy1 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 ocular coloboma1 test
Congenital pontocerebellar hypoplasia type 12 tests
Constipation1 test
Cornelia de Lange syndrome 11 test
Costello syndrome1 test
Cowden syndrome5 tests
Cowden syndrome 14 tests
Craniometadiaphyseal dysplasia wormian bone type1 test
Craniosynostosis syndrome1 test
Crouzon syndrome1 test
Cryptorchidism1 test
Cutis laxa3 tests
Cyclical neutropenia2 tests
Cystic fibrosis1 test
Danon disease1 test
DDX41-related hematologic malignancy predisposition syndrome2 tests
De Lange syndrome2 tests
DE SANCTIS-CACCHIONE SYNDROME1 test
Deafness dystonia syndrome2 tests
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 2-methylbutyryl-CoA dehydrogenase1 test
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of galactokinase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of malonyl-CoA decarboxylase1 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 941 test
Developmental and epileptic encephalopathy, 12 tests
Developmental and epileptic encephalopathy, 111 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 141 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 161 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 22 tests
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 241 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 42 tests
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 91 test
Diabetes-deafness syndrome maternally transmitted4 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
DiGeorge syndrome1 test
Dihydropteridine reductase deficiency1 test
Dilated cardiomyopathy 1X1 test
Disorder of the urea cycle metabolism1 test
Distal arthrogryposis1 test
DOORS syndrome1 test
DPAGT1-congenital disorder of glycosylation1 test
Drash syndrome1 test
Duane-radial ray syndrome2 tests
Duchenne muscular dystrophy1 test
Dyskeratosis congenita1 test
Dyskeratosis congenita, autosomal dominant 31 test
Dysphagia1 test
Dyssynergia2 tests
Dystonia 121 test
Dystonia 161 test
Dystonia 241 test
Dystonia 52 tests
Dystonia 91 test
Dystonic disorder3 tests
Early infantile epileptic encephalopathy with suppression bursts2 tests
Early onset epileptic encephalopathy1 test
Early-onset generalized limb-onset dystonia1 test
EAST syndrome1 test
Ectodermal dysplasia and immunodeficiency 11 test
Ectrodactyly1 test
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 31 test
Ehlers-Danlos syndrome7 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 deficiency2 tests
Encephalopathy due to mitochondrial and peroxisomal fission defect1 test
Endometrial carcinoma5 tests
Epidermolysis bullosa1 test
Epidermolytic palmoplantar keratoderma1 test
Epilepsy4 tests
Epileptic spasm2 tests
Episodic ataxia type 21 test
Episodic kinesigenic dyskinesia 11 test
Erythrokeratodermia variabilis1 test
Ethylmalonic encephalopathy1 test
Euthyroid goiter1 test
Exostoses, multiple, type 21 test
Exostoses, multiple, type III1 test
Exudative vitreoretinopathy1 test
Fabry disease1 test
Facial palsy1 test
Familial adenomatous polyposis 16 tests
Familial adenomatous polyposis 25 tests
Familial amyloid nephropathy with urticaria AND deafness4 tests
Familial amyloid neuropathy1 test
Familial aplasia of the vermis3 tests
Familial atrial myxoma1 test
Familial cancer of breast13 tests
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 13 tests
Familial colorectal cancer7 tests
Familial digital arthropathy-brachydactyly1 test
Familial dysautonomia1 test
Familial infantile myasthenia2 tests
Familial Mediterranean fever1 test
Familial melanoma1 test
Familial meningioma1 test
Familial ovarian carcinoma5 tests
Familial pancreatic carcinoma5 tests
Familial prostate carcinoma5 tests
Familial scaphocephaly syndrome, McGillivray type1 test
Familial spontaneous pneumothorax1 test
Familial thoracic aortic aneurysm and aortic dissection5 tests
Familial X-linked hypophosphatemic vitamin D refractory rickets1 test
Fanconi anemia complementation group D17 tests
Fanconi anemia complementation group J5 tests
Fanconi anemia complementation group N6 tests
Fatal multiple mitochondrial dysfunctions syndrome1 test
Feeding difficulties1 test
Feingold syndrome1 test
Fetal akinesia deformation sequence 12 tests
Fetal akinesia deformation sequence 21 test
FG syndrome 12 tests
FG syndrome 21 test
Fibrochondrogenesis 15 tests
Fibrous dysplasia of jaw1 test
Flexion contracture1 test
Focal segmental glomerulosclerosis1 test
Focal segmental glomerulosclerosis 11 test
Foveal hypoplasia 11 test
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
Freeman-Sheldon syndrome1 test
Frontometaphyseal dysplasia 11 test
Frontotemporal dementia2 tests
Fucosidosis1 test
Full cheeks1 test
Fumarase deficiency2 tests
Furrowed tongue1 test
Galactosemia1 test
Galactosylceramide beta-galactosidase deficiency2 tests
Gardner syndrome4 tests
Gastroesophageal reflux1 test
Gastrointestinal stromal tumor1 test
Gaucher disease due to saposin C deficiency1 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 plus3 tests
Generalized epilepsy with febrile seizures plus, type 21 test
Generalized epilepsy with febrile seizures plus, type 71 test
Generalized juvenile polyposis/juvenile polyposis coli3 tests
Genitopatellar syndrome1 test
Gillespie syndrome1 test
Glaucoma1 test
Global developmental delay1 test
Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome1 test
Glucocorticoid deficiency with achalasia1 test
GLUT1 deficiency syndrome2 tests
Glutaric aciduria, type 11 test
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form1 test
Glycogen storage disease, type IV1 test
GM1 gangliosidosis1 test
GM1 gangliosidosis type 31 test
Gordon syndrome1 test
Gorlin syndrome3 tests
GRACILE syndrome1 test
Greenberg dysplasia1 test
Greig cephalopolysyndactyly syndrome1 test
Hartsfield-Bixler-Demyer syndrome1 test
Hb SS disease2 tests
Hearing loss, autosomal dominant 34, with or without inflammation2 tests
Hepatic methionine adenosyltransferase deficiency1 test
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 11 test
Hereditary angioedema type 31 test
Hereditary breast ovarian cancer syndrome10 tests
Hereditary cancer-predisposing syndrome4 tests
Hereditary diffuse gastric adenocarcinoma4 tests
Hereditary disease20 tests
Hereditary hearing loss and deafness1 test
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary liability to pressure palsies1 test
Hereditary motor and sensory neuropathy2 tests
Hereditary myopathy with lactic acidosis due to ISCU deficiency1 test
Hereditary pancreatitis2 tests
Hereditary pheochromocytoma-paraganglioma2 tests
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 paraplegia1 test
Hereditary spastic paraplegia 491 test
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX11 test
Hidrotic ectodermal dysplasia syndrome1 test
High myopia-sensorineural deafness syndrome1 test
Highly arched eyebrow1 test
Hip contracture1 test
Holocarboxylase synthetase deficiency1 test
Holoprosencephaly 72 tests
Holoprosencephaly sequence1 test
Holt-Oram syndrome1 test
Homocystinuria1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
HSD10 mitochondrial disease1 test
Huppke-Brendel syndrome1 test
Hyper-IgE syndrome1 test
Hyperammonemia1 test
Hyperammonemia, type III1 test
Hypercholesterolemia, familial, 14 tests
Hyperekplexia 11 test
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 41 test
Hyperkalemic periodic paralysis1 test
Hyperlordosis1 test
Hyperparathyroidism 11 test
Hyperparathyroidism 2 with jaw tumors2 tests
Hyperphenylalaninemia1 test
Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hypertrophic cardiomyopathy5 tests
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome1 test
Hypocalcemic rickets1 test
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
Hypophosphatasia1 test
Hypophosphatemic rickets2 tests
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
Imerslund-Grasbeck syndrome1 test
Inborn disorder of lysosomal amino acid transport1 test
Inborn glycerol kinase deficiency1 test
Inborn mitochondrial myopathy3 tests
Incontinentia pigmenti syndrome1 test
Infantile convulsions and choreoathetosis1 test
Infantile epilepsy1 test
Infantile GM1 gangliosidosis1 test
Infantile liver failure1 test
Infantile-onset X-linked spinal muscular atrophy1 test
Inguinal hernia1 test
Intellectual disability3 tests
Irido-corneo-trabecular dysgenesis1 test
Isolated coronal synostosis1 test
Isolated microcephaly2 tests
Isovaleryl-CoA dehydrogenase deficiency1 test
Jackson-Weiss syndrome1 test
Jervell and Lange-Nielsen syndrome1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke3 tests
Juvenile polyposis syndrome1 test
KBG syndrome1 test
Kearns-Sayre syndrome3 tests
Keratitis ichthyosis and deafness syndrome1 test
Keutel syndrome1 test
Knee flexion contracture1 test
Kostmann syndrome1 test
Krabbe disease due to saposin A deficiency2 tests
Lactic acidosis3 tests
Langer-Giedion syndrome1 test
Leber congenital amaurosis 141 test
Leber congenital amaurosis 151 test
Leber congenital amaurosis 31 test
Leber congenital amaurosis with early-onset deafness1 test
Leber hereditary optic neuropathy, autosomal recessive1 test
Leber optic atrophy3 tests
Left ventricular noncompaction cardiomyopathy4 tests
Legius syndrome1 test
Leigh syndrome4 tests
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
Leukemia1 test
Leukodystrophy2 tests
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome1 test
Levy-Hollister syndrome2 tests
Lewy body dementia1 test
Li-Fraumeni syndrome6 tests
Li-Fraumeni syndrome 14 tests
Li-Fraumeni syndrome 21 test
Lipoic acid synthetase deficiency1 test
Lipoyl transferase 1 deficiency1 test
Lissencephaly4 tests
Lissencephaly 41 test
Lissencephaly 6 with microcephaly1 test
Lissencephaly 7 with cerebellar hypoplasia1 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 syndrome4 tests
Long philtrum1 test
Long QT syndrome12 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
Lysosomal acid lipase deficiency1 test
Macrocephaly1 test
Macrocephaly-autism syndrome1 test
Macrotia1 test
Majeed syndrome1 test
Malignant hyperthermia, susceptibility to, 51 test
Malignant tumor of prostate6 tests
Maple syrup urine disease1 test
Marden-Walker syndrome1 test
Marfan syndrome7 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
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Megalocornea-intellectual disability syndrome1 test
Melanoma1 test
Melanoma, cutaneous malignant, susceptibility to, 13 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 syndrome3 tests
Metabolic myopathy1 test
Metachromatic leukodystrophy3 tests
Metaphyseal anadysplasia1 test
Metaphyseal chondrodysplasia, McKusick type2 tests
Metaphyseal dysplasia without hypotrichosis2 tests
Metatropic dysplasia1 test
Methylmalonic acidemia2 tests
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type2 tests
Microcephaly 1, primary, autosomal recessive1 test
Microcephaly, normal intelligence and immunodeficiency4 tests
Microcephaly, seizures, and developmental delay2 tests
Micrognathia1 test
Microphthalmia, isolated, with coloboma 101 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 deficiency2 tests
Mitochondrial complex II deficiency, nuclear type 12 tests
Mitochondrial complex III deficiency nuclear type 12 tests
Mitochondrial complex IV deficiency, nuclear type 12 tests
Mitochondrial disease5 tests
Mitochondrial DNA Deletion Syndromes3 tests
Mitochondrial DNA depletion syndrome1 test
Mitochondrial encephalopathy1 test
Mitochondrial neurogastrointestinal encephalomyopathy3 tests
Mitochondrial pyruvate carrier deficiency1 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
Morquio syndrome C1 test
Mowat-Wilson syndrome3 tests
Mucolipidosis type IV1 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Muir-Torré syndrome7 tests
Multiple acyl-CoA dehydrogenase deficiency4 tests
Multiple congenital exostosis1 test
Multiple endocrine neoplasia type 41 test
Multiple epiphyseal dysplasia3 tests
Multiple sclerosis, susceptibility to1 test
Multiple sclerosis, susceptibility to, 51 test
Multiple sulfatase deficiency2 tests
Muscular atrophy1 test
Muscular dystrophy1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 42 tests
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, lactic acidosis, and sideroblastic anemia1 test
Myopathy, proximal, and ophthalmoplegia1 test
Myosclerosis1 test
Myotonic dystrophy type 21 test
NARP syndrome3 tests
Nemaline bodies1 test
Nemaline myopathy1 test
Nemaline myopathy 21 test
Nemaline myopathy 51 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neoplasm of ovary5 tests
Neoplasm of stomach6 tests
Nephrocalcinosis1 test
Nephrolithiasis1 test
Nephrotic syndrome2 tests
Neuroblastoma, susceptibility to, 21 test
Neurodegeneration with brain iron accumulation1 test
Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter1 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
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 22 tests
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuronopathy, distal hereditary motor, autosomal dominant 81 test
Niemann-Pick disease, type C12 tests
Non-syndromic intellectual disability1 test
Nonpapillary renal cell carcinoma2 tests
Nonsyndromic Deafness1 test
Noonan syndrome5 tests
Noonan syndrome 101 test
Norman-Roberts syndrome1 test
Nystagmus2 tests
Nystagmus 6, congenital, X-linked1 test
Ocular albinism with congenital sensorineural hearing loss1 test
Ocular albinism with late-onset sensorineural deafness1 test
Oculocutaneous albinism1 test
Oculofaciocardiodental syndrome1 test
Oculopharyngeal muscular dystrophy1 test
Optic atrophy4 tests
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy1 test
Ornithine carbamoyltransferase deficiency2 tests
Orofaciodigital syndrome type 61 test
Osteochondroma1 test
Osteogenesis imperfecta4 tests
Otospondylomegaepiphyseal dysplasia, autosomal dominant3 tests
Otospondylomegaepiphyseal dysplasia, autosomal recessive2 tests
Ovarian cancer10 tests
Ovarian dysgenesis 11 test
Ovarian dysgenesis 21 test
Ovarioleukodystrophy1 test
Pallister-Hall syndrome1 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 disease3 tests
Paroxysmal extreme pain disorder1 test
Pearson syndrome3 tests
Pectus carinatum1 test
Pelviscapular dysplasia2 tests
Pendred syndrome1 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular nodular heterotopia2 tests
Permanent neonatal diabetes mellitus1 test
Peroxisome biogenesis disorder2 tests
Perrault syndrome3 tests
Peutz-Jeghers syndrome4 tests
Pfeiffer syndrome1 test
Phenylketonuria1 test
Pheochromocytoma4 tests
Phytanic acid storage disease1 test
Pigmentary pallidal degeneration1 test
Pigmentary retinal dystrophy1 test
Pigmented nodular adrenocortical disease, primary, 11 test
Pili torti-deafness syndrome1 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
Polymicrogyria1 test
Pontocerebellar hypoplasia type 101 test
Pontocerebellar hypoplasia type 1B1 test
Pontocerebellar hypoplasia type 21 test
Pontocerebellar hypoplasia type 2A1 test
Pontocerebellar hypoplasia type 2D1 test
Pontocerebellar hypoplasia type 2E1 test
Pontocerebellar hypoplasia type 31 test
Pontocerebellar hypoplasia type 43 tests
Pontocerebellar hypoplasia type 61 test
Pontocerebellar hypoplasia type 71 test
Pontocerebellar hypoplasia type 81 test
Pontocerebellar hypoplasia, type 111 test
Pontocerebellar hypoplasia, type 1C1 test
Pontocerebellar hypoplasia, type 2F1 test
Pontoneocerebellar hypoplasia1 test
Potassium-aggravated myotonia1 test
Prader-Willi syndrome2 tests
Premature ovarian failure1 test
Primary bone dysplasia with defective bone mineralization1 test
Primary dilated cardiomyopathy5 tests
Primary erythromelalgia1 test
Prion disease1 test
Progressive1 test
Progressive external ophthalmoplegia3 tests
Progressive myoclonic epilepsy2 tests
Progressive sclerosing poliodystrophy2 tests
Prolidase deficiency1 test
Prominent forehead1 test
Propionic acidemia3 tests
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
Pyridoxine-dependent epilepsy3 tests
Pyruvate carboxylase deficiency2 tests
Pyruvate dehydrogenase complex deficiency1 test
Pyruvate dehydrogenase E1-alpha deficiency1 test
Pyruvate dehydrogenase E1-beta deficiency1 test
Pyruvate dehydrogenase E3 deficiency1 test
Qualitative or quantitative defects of alpha-dystroglycan2 tests
Radial aplasia-thrombocytopenia syndrome1 test
Rapadilino syndrome4 tests
RASopathy1 test
Reduced eye contact1 test
Relative macrocephaly1 test
Renal carnitine transport defect2 tests
Renal tubular acidosis with progressive nerve deafness1 test
Respiratory failure1 test
Retinal dystrophy1 test
Retinitis pigmentosa1 test
Retinitis pigmentosa 731 test
Rett syndrome6 tests
Rett syndrome, congenital variant1 test
Revesz syndrome1 test
Rhabdomyosarcoma, embryonal, 21 test
Riboflavin transporter deficiency1 test
Rickets1 test
Rienhoff syndrome1 test
Roberts-SC phocomelia syndrome1 test
Round face1 test
Roussy-Lévy syndrome1 test
Rubinstein-Taybi syndrome1 test
Saethre-Chotzen syndrome1 test
Sarcoma1 test
Schinzel phocomelia syndrome2 tests
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
Seizures, benign familial infantile, 33 tests
Sensorineural hearing loss disorder4 tests
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
Severe congenital neutropenia1 test
Severe myoclonic epilepsy in infancy1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Severe X-linked myotubular myopathy1 test
Short columella1 test
Short neck1 test
Short nose1 test
Short QT syndrome11 tests
Shprintzen-Goldberg syndrome1 test
Shwachman-Diamond syndrome 11 test
Sideroblastic anemia1 test
Simpson-Golabi-Behmel syndrome type 11 test
Sinoatrial node dysfunction and deafness1 test
Skeletal dysplasia2 tests
Slender nose1 test
Small fiber neuropathy1 test
Smith-Lemli-Opitz syndrome2 tests
Smith-Magenis syndrome1 test
Smooth philtrum1 test
Sodium serum level quantitative trait locus 11 test
Sotos syndrome2 tests
Spastic ataxia1 test
Spastic tetraplegia1 test
Sphingolipid activator protein 1 deficiency1 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
Spinocerebellar ataxia with epilepsy1 test
Spinocerebellar atrophy1 test
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 disease2 tests
Stargardt disease 31 test
Steinert myotonic dystrophy syndrome1 test
Stickler syndrome4 tests
Strabismus, susceptibility to1 test
Sudden cardiac arrest2 tests
Sulfate transporter-related osteochondrodysplasia1 test
Syndromic X-linked intellectual disability Lubs type1 test
Tay-Sachs disease1 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)2 tests
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
Tyrosinemia type I1 test
Tyrosinemia type II1 test
Tyrosinemia type III1 test
Ullrich congenital muscular dystrophy 1A1 test
Ulnar-mammary syndrome1 test
Umbilical hernia1 test
Usher syndrome2 tests
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 syndrome2 tests
Very long chain acyl-CoA dehydrogenase deficiency1 test
Visceral myopathy 13 tests
Vitamin D-dependent rickets1 test
Von Hippel-Lindau syndrome5 tests
Waardenburg syndrome1 test
Walker-Warburg congenital muscular dystrophy2 tests
Warburg micro syndrome1 test
West syndrome1 test
Wide mouth1 test
Wide nasal bridge1 test
Wieacker-Wolff syndrome, female-restricted1 test
Williams syndrome1 test
Wilms tumor 11 test
Wilson disease1 test
Wolff-Parkinson-White pattern2 tests
Wolfram syndrome1 test
X-linked erythropoietic protoporphyria1 test
X-linked intellectual disability with marfanoid habitus2 tests
X-linked lissencephaly with abnormal genitalia1 test
X-linked retinitis pigmentosa1 test
Xeroderma pigmentosum, group G1 test
ZTTK syndrome1 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: 2024-03-31

Licenses

CA - California Department of Public Health CDPH, Number: CDS00800286, Expiration date: 2023-08-31
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: 2023-06-30
PA - Pennsylvania Department of Health PADOH, Number: 029524A, Expiration date: 2023-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00564, Expiration date: 2022-12-30

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.