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GTR Home > Laboratories > GeneDx

GeneDx

GTR Lab ID: 26957, Last updated:2022-12-09

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

  • 11p partial monosomy syndrome1 test
  • 15q11q13 microduplication syndrome1 test
  • 22q partial monosomy1 test
  • 2q24 microdeletion syndrome1 test
  • 3-methylglutaconic aciduria type 11 test
  • 3-Methylglutaconic aciduria type 21 test
  • 3-Methylglutaconic aciduria type 31 test
  • 3p- syndrome1 test
  • 46,XX sex reversal 12 tests
  • 46,XY disorder of sex development1 test
  • 46,XY disorder of sex development and 46,XY complete gonadal dysgenesis1 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
  • 8p23.1 microdeletion syndrome1 test
  • ABCD syndrome1 test
  • Abnormal circulating lipid concentration3 tests
  • Abnormal maternal serum screening4 tests
  • 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
  • Adducted thumb1 test
  • Adenylosuccinate lyase deficiency1 test
  • Adrenoleukodystrophy2 tests
  • Adult polyglucosan body disease1 test
  • ADULT syndrome1 test
  • Adult-onset autosomal dominant demyelinating leukodystrophy1 test
  • Advanced maternal age4 tests
  • Age related macular degeneration 51 test
  • Agenesis of cerebellar vermis3 tests
  • 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
  • Amyloidogenic transthyretin amyloidosis1 test
  • 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
  • Angiokeratoma corporis diffusum1 test
  • 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 cardiomyopathy18 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 Gaucher disease due to saposin C deficiency1 test
  • Atypical Rett syndrome4 tests
  • Autism spectrum disorder3 tests
  • Autism, susceptibility to, X-linked 41 test
  • Autosomal dominant congenital benign spinal muscular atrophy1 test
  • 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 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
  • Bethlem myopathy 11 test
  • Bilateral frontoparietal polymicrogyria1 test
  • Biotin-responsive basal ganglia disease1 test
  • Biotinidase deficiency2 tests
  • 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 syndrome15 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
  • Cardiomyopathy3 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 tachycardia13 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 1, deletion q21 q251 test
  • Chromosome 1, duplication 1p21 p321 test
  • Chromosome 1, monosomy 1p22 p131 test
  • Chromosome 1, monosomy 1p31 p221 test
  • Chromosome 1, monosomy 1p321 test
  • Chromosome 1, monosomy 1p34 p321 test
  • Chromosome 1, monosomy 1q25 q321 test
  • Chromosome 1, monosomy 1q32 q421 test
  • Chromosome 1, trisomy 1q32 qter1 test
  • Chromosome 1, trisomy 1q42-qter1 test
  • Chromosome 1, uniparental disomy 1q12 q211 test
  • Chromosome 10, trisomy 10pter p131 test
  • Chromosome 10q23 deletion syndrome1 test
  • Chromosome 11, deletion 11p1 test
  • Chromosome 11, partial trisomy 11q1 test
  • Chromosome 11;14 translocation1 test
  • Chromosome 11p, partial deletion1 test
  • Chromosome 11q trisomy1 test
  • Chromosome 12p deletion1 test
  • Chromosome 13, partial monosomy 13q1 test
  • Chromosome 13p duplication1 test
  • Chromosome 13q-mosaicism1 test
  • Chromosome 13q14 deletion syndrome1 test
  • Chromosome 14 deletion1 test
  • Chromosome 14 trisomy1 test
  • Chromosome 14, deletion 14q, partial duplication 14p1 test
  • Chromosome 14;16 translocation1 test
  • Chromosome 14q, partial deletions1 test
  • Chromosome 14q, proximal duplication1 test
  • Chromosome 14q11-q22 deletion syndrome1 test
  • Chromosome 15, distal trisomy 15q1 test
  • Chromosome 15q duplication mosaicism1 test
  • Chromosome 15q, partial deletion1 test
  • Chromosome 15q, tetrasomy1 test
  • Chromosome 15q11.2 deletion syndrome1 test
  • Chromosome 15q11.2 duplication syndrome1 test
  • Chromosome 15q25 deletion syndrome1 test
  • Chromosome 15q26-qter deletion syndrome1 test
  • Chromosome 16 inversion, 0.45-Mb1 test
  • Chromosome 16 trisomy1 test
  • Chromosome 16, uniparental disomy1 test
  • Chromosome 16p11.2 duplication syndrome1 test
  • Chromosome 16p12.1 deletion syndrome, 520kb1 test
  • Chromosome 16p12.2-p11.2 deletion syndrome1 test
  • Chromosome 16p13.3 duplication syndrome1 test
  • Chromosome 16q22 deletion syndrome1 test
  • Chromosome 17, deletion 17q23 q241 test
  • Chromosome 17p deletion1 test
  • Chromosome 17p13.1 deletion syndrome1 test
  • Chromosome 17p13.3 duplication syndrome1 test
  • Chromosome 17q11.2 deletion syndrome, 1.4Mb1 test
  • Chromosome 17q12 deletion syndrome1 test
  • Chromosome 17q12 duplication syndrome1 test
  • Chromosome 17q21.31 duplication syndrome1 test
  • Chromosome 17q23.1-q23.2 deletion syndrome1 test
  • Chromosome 18 mosaic monosomy1 test
  • Chromosome 18 pericentric inversion1 test
  • Chromosome 19 ring syndrome1 test
  • Chromosome 19p13.13 deletion syndrome1 test
  • Chromosome 19q13.11 deletion syndrome, distal1 test
  • Chromosome 1p32-p31 deletion syndrome1 test
  • Chromosome 1p36 deletion syndrome2 tests
  • Chromosome 1q deletion1 test
  • Chromosome 1q, duplication 1q12 q211 test
  • Chromosome 1q21.1 duplication syndrome1 test
  • CHROMOSOME 1qter DELETION SYNDROME1 test
  • Chromosome 2, monosomy 2p221 test
  • Chromosome 2, monosomy 2pter p241 test
  • Chromosome 2, trisomy 2pter p241 test
  • Chromosome 2, trisomy 2q371 test
  • Chromosome 21, monosomy 21q221 test
  • Chromosome 21, tetrasomy 21q1 test
  • Chromosome 22, monosome mosaic1 test
  • Chromosome 22, trisomy q11 q131 test
  • Chromosome 22q11.2 deletion syndrome, distal1 test
  • Chromosome 22q13 duplication syndrome1 test
  • Chromosome 2p12-p11.2 deletion syndrome1 test
  • Chromosome 2q23.1 deletion syndrome1 test
  • Chromosome 2q23.1 duplication syndrome1 test
  • Chromosome 2q31.1 duplication syndrome1 test
  • Chromosome 2q31.2 deletion syndrome1 test
  • Chromosome 2q32-q33 deletion syndrome1 test
  • Chromosome 2q37 deletion syndrome1 test
  • Chromosome 3 duplication syndrome1 test
  • Chromosome 3, monosomy 3p14 p111 test
  • Chromosome 3, monosomy 3q131 test
  • Chromosome 3, monosomy 3q21 231 test
  • Chromosome 3, monosomy 3q271 test
  • Chromosome 3, trisomy 3p251 test
  • Chromosome 3, trisomy 3q13 2 q251 test
  • Chromosome 3q13.31 deletion syndrome1 test
  • Chromosome 3q29 microduplication syndrome1 test
  • Chromosome 4 short arm deletion1 test
  • Chromosome 4, monosomy 4p14 p161 test
  • Chromosome 4, monosomy 4q321 test
  • Chromosome 4, monosomy distal 4q1 test
  • Chromosome 4, partial trisomy distal 4q1 test
  • Chromosome 4, Trisomy 4p1 test
  • Chromosome 4, trisomy 4q211 test
  • Chromosome 4, trisomy 4q25 qter1 test
  • Chromosome 4q21 deletion syndrome1 test
  • Chromosome 4Q32.1-q32.2 triplication syndrome1 test
  • Chromosome 5, trisomy 5pter p13 31 test
  • Chromosome 5, uniparental disomy1 test
  • Chromosome 5p13 duplication syndrome1 test
  • Chromosome 5q12 deletion syndrome1 test
  • Chromosome 5q14.3 deletion syndrome1 test
  • Chromosome 6, deletion 6q13 q151 test
  • Chromosome 6, monosomy 6p231 test
  • Chromosome 6, monosomy 6q11 test
  • Chromosome 6, monosomy 6q21 test
  • Chromosome 6pter-p24 deletion syndrome1 test
  • Chromosome 6q24-q25 deletion syndrome1 test
  • Chromosome 7, monosomy1 test
  • Chromosome 7, monosomy 7q21 test
  • Chromosome 7, monosomy 7q211 test
  • Chromosome 7, monosomy 7q31 test
  • Chromosome 7, partial monosomy 7p1 test
  • Chromosome 7, trisomy 7p13 p12 21 test
  • Chromosome 8, monosomy 8p1 test
  • Chromosome 8, monosomy 8p21 test
  • Chromosome 8, partial trisomy1 test
  • Chromosome 8-derived supernumerary ring/marker1 test
  • Chromosome 8q21.11 deletion syndrome1 test
  • Chromosome 9 translocation1 test
  • Chromosome 9, deletion 9q21.33q22.321 test
  • Chromosome 9, duplication 9q211 test
  • Chromosome 9, trisomy 9p1 test
  • Chromosome 9, trisomy 9q1 test
  • Chromosome 9, trisomy 9q321 test
  • Chromosome 9p deletion syndrome1 test
  • Chromosome 9q duplication1 test
  • Chromosome Xp21 deletion syndrome1 test
  • Chromosomes 1 and 2, monosomy 2q duplication 1p1 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
  • 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
  • Complex V deficiency2 tests
  • Cone-rod dystrophy 21 test
  • Cone/cone-rod dystrophy1 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 cataract-hearing loss-severe developmental delay syndrome1 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 hypotonia, epilepsy, developmental delay, and digital anomalies1 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 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
  • Cytochrome-c oxidase deficiency disease2 tests
  • 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 glycerol kinase1 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
  • Deletion of long arm of chromosome 131 test
  • Deletion of long arm of chromosome 181 test
  • Deletion of short arm of chromosome 181 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 10q deletion syndrome1 test
  • Distal 16p11.2 microdeletion syndrome1 test
  • Distal 7q11.23 microdeletion syndrome1 test
  • Distal arthrogryposis1 test
  • Distal monosomy 9p1 test
  • Distal trisomy 10q1 test
  • Distal trisomy 14q1 test
  • Distal trisomy 6q1 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 syndrome8 tests
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, type 46 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
  • Encephalopathy due to prosaposin deficiency1 test
  • Endometrial carcinoma5 tests
  • Epidermolysis bullosa1 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
  • Facial palsy1 test
  • Familial adenomatous polyposis 16 tests
  • Familial adenomatous polyposis 25 tests
  • Familial amyloid nephropathy with urticaria AND deafness4 tests
  • Familial atrial myxoma1 test
  • Familial cancer of breast13 tests
  • Familial clubfoot due to 17q23.1q23.2 microduplication1 test
  • Familial cold autoinflammatory syndrome1 test
  • Familial cold autoinflammatory syndrome 13 tests
  • Familial colorectal cancer7 tests
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysautonomia1 test
  • Familial exudative vitreoretinopathy1 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 dissection6 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
  • FGFR2-related bent bone dysplasia1 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
  • Galactosylceramide beta-galactosidase deficiency2 tests
  • Gardner syndrome4 tests
  • Gastroesophageal reflux1 test
  • Gastrointestinal stroma 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 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 disease3 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 disease10 tests
  • Hereditary hearing loss and deafness1 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • 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 MTHFR deficiency1 test
  • HSD10 mitochondrial disease1 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 cardiomyopathy8 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
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Inborn disorder of lysosomal amino acid transport1 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
  • Infertility1 test
  • Inguinal hernia1 test
  • Intellectual disability3 tests
  • Intellectual disability, autosomal dominant 221 test
  • Irido-corneo-trabecular dysgenesis1 test
  • Isolated coronal synostosis1 test
  • 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
  • Kleefstra syndrome 11 test
  • Knee flexion contracture1 test
  • Kostmann syndrome1 test
  • Krabbe disease, atypical, 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 cardiomyopathy7 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
  • Localized epidermolytic hyperkeratosis1 test
  • Loeys-Dietz syndrome4 tests
  • Long philtrum1 test
  • Long QT syndrome14 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 syndrome8 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
  • Mitochondrial complex I deficiency2 tests
  • Mitochondrial complex II deficiency, nuclear type 12 tests
  • Mitochondrial complex III 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
  • Monosomy 211 test
  • Morquio syndrome C1 test
  • Mosaic trisomy 101 test
  • Mosaic trisomy 141 test
  • Mosaic trisomy 151 test
  • Mosaic trisomy 211 test
  • Mosaic trisomy 221 test
  • Mosaic trisomy 71 test
  • Mosaic trisomy 81 test
  • Mosaic trisomy 91 test
  • Motor developmental delay due to 14q32.2 paternally expressed gene defect1 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 anomalies1 test
  • Multiple congenital exostosis1 test
  • Multiple cutaneous leiomyomas2 tests
  • Multiple endocrine neoplasia type 41 test
  • Multiple epiphyseal dysplasia3 tests
  • Multiple fibrofolliculomas1 test
  • Multiple sclerosis, susceptibility to1 test
  • Multiple sclerosis, susceptibility to, 51 test
  • Multiple sulfatase deficiency2 tests
  • 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
  • Myeloid neoplasm associated with FGFR1 rearrangement1 test
  • 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 11 test
  • Nemaline myopathy 21 test
  • Nemaline myopathy 41 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
  • Niemann-Pick disease, type C12 tests
  • Non-syndromic intellectual disability1 test
  • Nonpapillary renal cell carcinoma2 tests
  • Nonsyndromic Deafness1 test
  • Nonsyndromic microcephaly2 tests
  • Noonan syndrome7 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
  • Osteochondrodysplasia1 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
  • Partial deletion of the long arm of chromosome 111 test
  • Partial deletion of the long arm of chromosome 21 test
  • Partial deletion of the long arm of chromosome 41 test
  • Partial deletion of the long arm of chromosome 61 test
  • Partial deletion of the long arm of chromosome 81 test
  • Partial deletion of the short arm of chromosome 11 test
  • Partial deletion of the short arm of chromosome 101 test
  • Partial duplication of the long arm of chromosome 121 test
  • Partial duplication of the long arm of chromosome 151 test
  • Partial duplication of the long arm of chromosome 171 test
  • Partial duplication of the long arm of chromosome 191 test
  • Partial duplication of the long arm of chromosome 21 test
  • Partial duplication of the long arm of chromosome 31 test
  • Partial duplication of the long arm of chromosome 41 test
  • Partial duplication of the long arm of chromosome 71 test
  • Partial duplication of the long arm of chromosome X1 test
  • Partial duplication of the short arm of chromosome 161 test
  • Partial duplication of the short arm of chromosome 21 test
  • Partial duplication of the short arm of chromosome 61 test
  • Partial duplication of the short arm of chromosome 71 test
  • Partial monosomy of the long arm of chromosome 101 test
  • Partial monosomy of the short arm of chromosome 201 test
  • Partial trisomy of the long arm of chromosome 161 test
  • Partial trisomy of the long arm of chromosome 181 test
  • Partial trisomy of the long arm of chromosome 51 test
  • Paternal uniparental disomy of chromosome 141 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
  • Poor eye contact1 test
  • Potassium-aggravated myotonia1 test
  • Potocki-Lupski syndrome1 test
  • Prader-Willi syndrome2 tests
  • Prader-Willi-like syndrome associated with chromosome 61 test
  • Premature ovarian failure1 test
  • Primary bone dysplasia with defective bone mineralization1 test
  • Primary dilated cardiomyopathy8 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
  • Pseudoxanthoma elasticum1 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
  • Recurrent spontaneous abortion4 tests
  • 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
  • Ring chromosome 11 test
  • Ring chromosome 101 test
  • Ring chromosome 121 test
  • Ring chromosome 131 test
  • Ring chromosome 141 test
  • Ring chromosome 151 test
  • Ring chromosome 181 test
  • Ring chromosome 191 test
  • Ring chromosome 20 syndrome1 test
  • Ring chromosome 211 test
  • Ring chromosome 221 test
  • Ring chromosome 61 test
  • Ring chromosome 71 test
  • Ring chromosome 91 test
  • Roberts-SC phocomelia syndrome1 test
  • Round face1 test
  • Roussy-Lévy syndrome1 test
  • Rubinstein-Taybi syndrome1 test
  • Rubinstein-Taybi syndrome due to 16p13.3 microdeletion1 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 impairment4 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Severe achondroplasia-developmental delay-acanthosis nigricans syndrome1 test
  • Severe congenital neutropenia1 test
  • Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome1 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 syndrome13 tests
  • Short stature1 test
  • Shprintzen-Goldberg syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Sideroblastic anemia1 test
  • Silver-Russell syndrome 11 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Sinoatrial node dysfunction and deafness1 test
  • Skeletal dysplasia2 tests
  • Skeletal muscle atrophy1 test
  • 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 syndrome1 test
  • Sotos syndrome 11 test
  • 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 arrest3 tests
  • Syndromic X-linked intellectual disability Lubs type1 test
  • Talipes equinovarus1 test
  • Tay-Sachs disease1 test
  • Telangiectasia, hereditary hemorrhagic, type 12 tests
  • Tetrasomy 18p1 test
  • Tetrasomy 9p1 test
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Thin upper lip vermilion1 test
  • Thrombocytopenia 51 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
  • Trisomy 10p1 test
  • Trisomy 12p1 test
  • Trisomy 17p1 test
  • Trisomy 20p1 test
  • Trisomy 8p1 test
  • Trisomy 8q1 test
  • Tuberous sclerosis 14 tests
  • Tuberous sclerosis 24 tests
  • Tuberous sclerosis syndrome3 tests
  • Turcot syndrome6 tests
  • TWIST1-related craniosynostosis1 test
  • Tyrosinemia type I1 test
  • Tyrosinemia type II1 test
  • Tyrosinemia type III1 test
  • Ullrich congenital muscular dystrophy 11 test
  • Ulnar-mammary syndrome1 test
  • Umbilical hernia1 test
  • Uniparental disomy of 111 test
  • Uniparental disomy of 71 test
  • Uniparental disomy of chromosome 61 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 myopathy3 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 chromosome, duplication Xq13 1 q21 11 test
  • X chromosome, monosomy Xq281 test
  • X chromosome, trisomy Xp31 test
  • X chromosome, trisomy Xpter Xq131 test
  • X chromosome, trisomy Xq251 test
  • X-linked acrogigantism due to Xq26 microduplication1 test
  • X-linked erythropoietic protoporphyria1 test
  • X-linked intellectual disability with marfanoid habitus2 tests
  • X-linked intellectual disability-retinitis pigmentosa syndrome1 test
  • X-linked lissencephaly with abnormal genitalia1 test
  • X-linked retinitis pigmentosa1 test
  • Xeroderma pigmentosum, group G1 test
  • Xq27.3q28 duplication syndrome1 test
  • Y chromosome deletions1 test
  • Y chromosome-related disorders1 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

  • CLIAHelp, 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.