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GTR Home > Laboratories > CGC Genetics

CGC Genetics

GTR Lab ID: 202248, Last updated:2023-09-29

Personnel

Conditions and tests

  • 3-Methylglutaconic aciduria type 31 test
  • 46 XX gonadal dysgenesis1 test
  • 46,XY sex reversal 11 test
  • 4p partial monosomy syndrome1 test
  • 5p partial monosomy syndrome1 test
  • Abducens nerve palsy1 test
  • Achromatopsia 41 test
  • Achromatopsia 61 test
  • Acne inversa1 test
  • Acral peeling skin syndrome1 test
  • Acroerythrokeratoderma1 test
  • Acute febrile mucocutaneous lymph node syndrome1 test
  • Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins1 test
  • Acute lymphoid leukemia11 tests
  • Acute myeloid leukemia21 tests
  • Acute promyelocytic leukemia6 tests
  • Adams-Oliver syndrome1 test
  • Adams-Oliver syndrome 51 test
  • ADULT syndrome1 test
  • Aganglionic megacolon3 tests
  • Aicardi syndrome1 test
  • ALG11-congenital disorder of glycosylation1 test
  • Alpha-fetoprotein deficiency1 test
  • Alveolar capillary dysplasia with pulmonary venous misalignment1 test
  • Amelocerebrohypohidrotic syndrome1 test
  • Amelogenesis imperfecta, hypocalcification type1 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic lateral sclerosis type 101 test
  • Amyotrophic lateral sclerosis type 151 test
  • Amyotrophic lateral sclerosis type 161 test
  • Amyotrophic lateral sclerosis type 181 test
  • Amyotrophic lateral sclerosis type 81 test
  • Amyotrophic lateral sclerosis type 91 test
  • Amyotrophic lateral sclerosis, susceptibility to1 test
  • Aneurysm-osteoarthritis syndrome1 test
  • Angelman syndrome1 test
  • Anterior segment dysgenesis2 tests
  • Aortic aneurysm, familial thoracic 81 test
  • Aortic valve disease 21 test
  • Aortic valve disorder1 test
  • Arginine:glycine amidinotransferase deficiency1 test
  • Arrhythmogenic right ventricular dysplasia 11 test
  • Arrhythmogenic right ventricular dysplasia 121 test
  • Arrhythmogenic right ventricular dysplasia 131 test
  • Arthrogryposis1 test
  • Arthrogryposis, renal dysfunction, and cholestasis 11 test
  • Asperger syndrome, X-linked, susceptibility to, 11 test
  • Asperger syndrome, X-linked, susceptibility to, 21 test
  • Athetosis1 test
  • Atrial fibrillation, familial, 111 test
  • Atrial fibrillation, familial, 61 test
  • Atrial fibrillation, familial, 71 test
  • Atrial septal defect 21 test
  • Atrial septal defect 71 test
  • Atrial septal defect 91 test
  • Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
  • Attention deficit hyperactivity disorder1 test
  • Atypical chronic myeloid leukemia, BCR-ABL1 negative1 test
  • Atypical hemolytic-uremic syndrome with anti-factor H antibodies1 test
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Auriculocondylar syndrome 11 test
  • Auriculocondylar syndrome 21 test
  • Auriculocondylar syndrome 31 test
  • Autism spectrum disorder7 tests
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome1 test
  • Autoimmune lymphoproliferative syndrome1 test
  • Autosomal chromosomal disorder1 test
  • Autosomal dominant Kenny-Caffey syndrome1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1F1 test
  • Autosomal dominant limb-girdle muscular dystrophy type 1G1 test
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 201 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 401 test
  • Autosomal dominant nonsyndromic hearing loss 411 test
  • Autosomal dominant nonsyndromic hearing loss 441 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 501 test
  • Autosomal dominant nonsyndromic hearing loss 641 test
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal dominant polycystic liver disease1 test
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 481 test
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 741 test
  • Autosomal recessive nonsyndromic hearing loss 761 test
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 81 test
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Autosomal recessive osteopetrosis 81 test
  • Avascular necrosis of the head of femur1 test
  • Azorean disease1 test
  • B-cell chronic lymphocytic leukemia11 tests
  • Baraitser-Winter syndrome1 test
  • Baraitser-Winter syndrome 11 test
  • Bardet-Biedl syndrome 121 test
  • Bardet-Biedl syndrome 171 test
  • Basal ganglia calcification, idiopathic, 51 test
  • Becker muscular dystrophy1 test
  • Behcet disease1 test
  • Beta-hydroxyisobutyryl-CoA deacylase deficiency1 test
  • Bothnia retinal dystrophy1 test
  • Brachydactyly type A11 test
  • Brachyrachia (short spine dysplasia)1 test
  • Branchiootorenal syndrome 21 test
  • Breast cancer, susceptibility to1 test
  • Breast-ovarian cancer, familial, susceptibility to, 41 test
  • Brown-Vialetto-van Laere syndrome 11 test
  • Bruck syndrome1 test
  • Brugada syndrome 61 test
  • Brugada syndrome 71 test
  • Brugada syndrome 81 test
  • Burkitt lymphoma2 tests
  • Candidiasis, familial, 81 test
  • Capillary malformation1 test
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 11 test
  • Carney-Stratakis syndrome1 test
  • Cataract 1 multiple types1 test
  • Cataract 17 multiple types1 test
  • Cataract 231 test
  • Cataract 331 test
  • Cataract 401 test
  • Cataract 5 multiple types1 test
  • Cataract 9 multiple types1 test
  • Catecholaminergic polymorphic ventricular tachycardia 41 test
  • Caudal regression sequence1 test
  • Cellular mosaicism1 test
  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome1 test
  • Cerebral creatine deficiency syndrome1 test
  • Cerebro facio thoracic dysplasia1 test
  • Cerebro-costo-mandibular syndrome1 test
  • Cerebrooculofacioskeletal syndrome 41 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease axonal type 2C1 test
  • Charcot-Marie-Tooth disease dominant intermediate C1 test
  • Charcot-Marie-Tooth disease dominant intermediate F1 test
  • Charcot-Marie-Tooth disease type 4J1 test
  • CHIME syndrome1 test
  • Cholangiocarcinoma1 test
  • Chondrodysplasia with joint dislocations, gPAPP type1 test
  • Chromosome 1p36 deletion syndrome1 test
  • Chromosome 2q37 deletion syndrome1 test
  • Chromosome Xp11.22 duplication syndrome1 test
  • Chronic myelogenous leukemia, BCR-ABL1 positive5 tests
  • Chronic neutrophilic leukemia1 test
  • Chronic pancreatitis1 test
  • CK syndrome1 test
  • Clubfoot1 test
  • Cole-Carpenter syndrome 11 test
  • Colorectal cancer1 test
  • Combined immunodeficiency due to CD3gamma deficiency1 test
  • Complete trisomy 131 test
  • Complete trisomy 13 syndrome3 tests
  • Complete trisomy 184 tests
  • Complete trisomy 211 test
  • Complete trisomy 21 syndrome4 tests
  • Complex cortical dysplasia with other brain malformations 41 test
  • Complex cortical dysplasia with other brain malformations 51 test
  • Cone dystrophy with supernormal rod response1 test
  • Cone-rod dystrophy 111 test
  • Cone-rod dystrophy 141 test
  • Congenital absence of salivary gland1 test
  • Congenital amegakaryocytic thrombocytopenia1 test
  • Congenital anomalies of kidney and urinary tract 21 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital central hypoventilation1 test
  • Congenital chromosomal disease10 tests
  • Congenital defect of folate absorption1 test
  • Congenital dyserythropoietic anemia type type 1B1 test
  • Congenital fibrosis of extraocular muscles1 test
  • Congenital fibrosis of extraocular muscles type 11 test
  • Congenital generalized lipodystrophy type 41 test
  • Congenital heart defects, multiple types, 21 test
  • Congenital heart defects, multiple types, 61 test
  • Congenital lipoid adrenal hyperplasia due to STAR deficency1 test
  • Congenital muscular dystrophy1 test
  • Congenital muscular dystrophy with intellectual disability and severe epilepsy1 test
  • Congenital myasthenic syndrome1 test
  • Congenital myopathy 231 test
  • Congenital myopathy 4A, autosomal dominant1 test
  • Congenital nongoitrous hypothyroidism 61 test
  • Congenital nonprogressive myopathy with Moebius and Robin sequences1 test
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital vertical talus1 test
  • Cornea plana 21 test
  • Cornelia de Lange syndrome 51 test
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome1 test
  • Costello syndrome1 test
  • Craniofacial dysplasia - osteopenia syndrome1 test
  • Craniosynostosis 21 test
  • Craniosynostosis 41 test
  • Creatine transporter deficiency1 test
  • Cryptorchidism1 test
  • Curry-Hall syndrome2 tests
  • Cutaneous porphyria1 test
  • Cutis laxa, autosomal recessive, type 1A1 test
  • Cystic fibrosis1 test
  • Cystic leukoencephalopathy without megalencephaly1 test
  • Deafness, mitochondrial, modifier of1 test
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hyaluronoglucosaminidase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Delta-beta-thalassemia1 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Dermatofibrosarcoma protuberans1 test
  • Desbuquois syndrome2 tests
  • Desmin-related myofibrillar myopathy1 test
  • Desmoplastic/nodular medulloblastoma1 test
  • Desmosterolosis1 test
  • Developmental and epileptic encephalopathy, 31 test
  • Developmental and epileptic encephalopathy, 81 test
  • Developmental malformations-deafness-dystonia syndrome1 test
  • Diamond-Blackfan anemia1 test
  • Diamond-Blackfan anemia 101 test
  • Diamond-Blackfan anemia 81 test
  • Diaphyseal dysplasia1 test
  • Diaphyseal medullary stenosis-bone malignancy syndrome1 test
  • DiGeorge syndrome2 tests
  • Dilated cardiomyopathy 1C1 test
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1Y1 test
  • Dilated cardiomyopathy 1Z1 test
  • Dilated cardiomyopathy 2B1 test
  • Dilated cardiomyopathy 3B1 test
  • DNA ligase IV deficiency1 test
  • DOORS syndrome1 test
  • Dopa-responsive dystonia due to sepiapterin reductase deficiency1 test
  • Double Y syndrome2 tests
  • Doyne honeycomb retinal dystrophy1 test
  • Duane retraction syndrome1 test
  • Duane retraction syndrome 21 test
  • Duchenne muscular dystrophy1 test
  • Dysmorphic features7 tests
  • Dyssynergia1 test
  • Early infantile epileptic encephalopathy with suppression bursts1 test
  • Early onset severe obesity1 test
  • Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome1 test
  • EGFR-related lung cancer1 test
  • Ehlers-Danlos syndrome1 test
  • Ehlers-Danlos syndrome progeroid type1 test
  • Ehlers-Danlos syndrome, musculocontractural type 21 test
  • Ehlers-Danlos syndrome, spondylodysplastic type, 11 test
  • Epidermodysplasia verruciformis2 tests
  • Epilepsy1 test
  • Epilepsy, childhood absence, susceptibility to, 51 test
  • Epilepsy, early-onset, vitamin B6-dependent1 test
  • Epilepsy, familial temporal lobe, 11 test
  • Epilepsy, idiopathic generalized, susceptibility to, 101 test
  • Episodic ataxia type 61 test
  • Erythrocytosis, familial, 31 test
  • Essential pentosuria1 test
  • Ewing sarcoma1 test
  • Exercise intolerance, riboflavin-responsive1 test
  • Exudative vitreoretinopathy 51 test
  • Factor XIII deficiency1 test
  • Familial adenomatous polyposis 11 test
  • Familial benign flecked retina1 test
  • Familial digital arthropathy-brachydactyly1 test
  • Familial dysfibrinogenemia2 tests
  • Familial ectopia lentis1 test
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial hemophagocytic lymphohistiocytosis 51 test
  • Familial hyperaldosteronism type III1 test
  • Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome1 test
  • Familial infantile myoclonic epilepsy1 test
  • Familial meningioma1 test
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial temporal lobe epilepsy 51 test
  • Fatal familial insomnia1 test
  • Feingold syndrome type 21 test
  • Fibrosis of extraocular muscles, congenital, 21 test
  • Fibrous dysplasia of jaw1 test
  • Follicular lymphoma, susceptibility to, 11 test
  • Fragile X syndrome2 tests
  • Fragile X-associated tremor/ataxia syndrome2 tests
  • Frank-Ter Haar syndrome1 test
  • Friedreich ataxia1 test
  • Frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome1 test
  • Frontorhiny1 test
  • Frontotemporal dementia4 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis 71 test
  • Frontotemporal dementia with motor neuron disease1 test
  • Galloway-Mowat syndrome1 test
  • Gamma-aminobutyric acid transaminase deficiency1 test
  • Gamma-glutamylcysteine synthetase deficiency1 test
  • Gastroesophageal reflux disease1 test
  • Gastrointestinal stromal tumor2 tests
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Genetic predisposition3 tests
  • Gerstmann-Straussler-Scheinker syndrome1 test
  • Glioblastoma1 test
  • Glioma1 test
  • Global developmental delay7 tests
  • Globozoospermia1 test
  • Gluthathione peroxidase deficiency1 test
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • GM3 synthase deficiency1 test
  • Goldberg-Shprintzen syndrome1 test
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive1 test
  • GTP cyclohydrolase I deficiency with hyperphenylalaninemia1 test
  • Hearing loss, X-linked 41 test
  • Hemolytic anemia due to adenylate kinase deficiency1 test
  • Hemolytic anemia due to glucophosphate isomerase deficiency1 test
  • Hemolytic anemia due to glutathione reductase deficiency1 test
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to1 test
  • Hereditary Chorea1 test
  • Hereditary disease3153 tests
  • Hereditary hyperferritinemia with congenital cataracts1 test
  • Hereditary intrinsic factor deficiency1 test
  • Hereditary nonpolyposis colon cancer1 test
  • Hereditary pancreatitis2 tests
  • Hereditary pulmonary alveolar proteinosis1 test
  • Hereditary spastic paraplegia1 test
  • Hereditary spastic paraplegia 261 test
  • Hereditary spastic paraplegia 441 test
  • Hereditary spastic paraplegia 471 test
  • Hereditary spastic paraplegia 501 test
  • Hereditary spastic paraplegia 511 test
  • Hereditary spastic paraplegia 561 test
  • Heterotaxy, visceral, 2, autosomal1 test
  • Heterotaxy, visceral, 4, autosomal1 test
  • Heyn-Sproul-Jackson syndrome1 test
  • Histidinemia1 test
  • Histiocytic medullary reticulosis1 test
  • Histiocytoid cardiomyopathy1 test
  • Holoprosencephaly 41 test
  • Human HOXA1 syndromes1 test
  • Huntington disease1 test
  • Huntington disease-like 11 test
  • Huntington disease-like 21 test
  • Hydatidiform mole, recurrent, 21 test
  • Hyper-IgM syndrome type 31 test
  • Hyperammonemia, type III1 test
  • Hypercholanemia, familial1 test
  • Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency1 test
  • Hyperekplexia 21 test
  • Hypereosinophilic syndrome, idiopathic, resistant to imatinib1 test
  • Hyperlipoproteinemia type IV2 tests
  • Hyperphosphatasemia tarda1 test
  • Hyperphosphatasemia with bone disease1 test
  • Hyperphosphatasia with intellectual disability syndrome 11 test
  • Hyperplastic polyposis syndrome1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertrophic cardiomyopathy 101 test
  • Hypertrophic cardiomyopathy 161 test
  • Hypertrophic cardiomyopathy 171 test
  • Hypertrophic cardiomyopathy 31 test
  • Hypertrophic cardiomyopathy 81 test
  • Hypogonadotropic hypogonadism1 test
  • Hypogonadotropic hypogonadism 11 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 13 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 16 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 24 without anosmia1 test
  • Hypogonadotropic hypogonadism 3 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 4 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 6 with or without anosmia1 test
  • Hypogonadotropic hypogonadism 8 with or without anosmia1 test
  • Hypomyelinating leukodystrophy 31 test
  • Hypophosphatemic rickets1 test
  • Hypospadias 2, X-linked1 test
  • Hypothalamic hypothyroidism1 test
  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 11 test
  • Hypotrichosis 131 test
  • Hypotrichosis 31 test
  • Ichthyosis prematurity syndrome1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • IL21-related infantile inflammatory bowel disease1 test
  • Immunodeficiency 27A1 test
  • Immunodeficiency 281 test
  • Immunodeficiency due to CD25 deficiency1 test
  • Immunodeficiency, common variable, 21 test
  • Immunodeficiency, common variable, 41 test
  • Immunodeficiency, developmental delay, and hypohomocysteinemia1 test
  • Immunodeficiency, X-linked, with hyper-IgM1 test
  • Infertility associated with multi-tailed spermatozoa and excessive DNA1 test
  • Inherited congenital spastic tetraplegia1 test
  • Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
  • Intellectual disability8 tests
  • Intellectual disability, autosomal dominant 81 test
  • Intellectual disability, autosomal recessive 71 test
  • Intellectual disability, X-linked 141 test
  • Intellectual disability, X-linked 211 test
  • Intellectual disability, X-linked 411 test
  • Intellectual disability, X-linked 451 test
  • Intellectual disability, X-linked 581 test
  • Intellectual disability, X-linked 721 test
  • Intellectual disability, X-linked 881 test
  • Intellectual disability, X-linked 891 test
  • Intellectual disability, X-linked 91 test
  • Intellectual disability, X-linked 911 test
  • Intellectual disability, X-linked 921 test
  • Intellectual disability, X-linked 951 test
  • Intellectual disability, X-linked 961 test
  • Intellectual disability, X-linked 971 test
  • Intellectual disability, X-linked, with or without seizures, arx-related1 test
  • Intellectual disability-strabismus syndrome1 test
  • Isolated microphthalmia 21 test
  • Isolated microphthalmia 31 test
  • Isolated microphthalmia 81 test
  • Isolated sedoheptulokinase deficiency1 test
  • Isolated thyroid-stimulating hormone deficiency1 test
  • Jalili syndrome1 test
  • Joubert syndrome 141 test
  • Joubert syndrome 151 test
  • Joubert syndrome 161 test
  • Joubert syndrome 21 test
  • Joubert syndrome 201 test
  • Joubert syndrome 81 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke2 tests
  • Kennedy disease1 test
  • Keutel syndrome1 test
  • Kleefstra syndrome1 test
  • Klinefelter syndrome2 tests
  • Koolen-de Vries syndrome1 test
  • LCAT deficiency1 test
  • Leber congenital amaurosis 121 test
  • Leber congenital amaurosis 161 test
  • Leber congenital amaurosis 31 test
  • Leber congenital amaurosis 51 test
  • Leber congenital amaurosis 91 test
  • Leber optic atrophy9 tests
  • Left-right axis malformations1 test
  • Leigh syndrome14 tests
  • Lennox-Gastaut syndrome1 test
  • Leri-Weill dyschondrosteosis1 test
  • Lethal multiple pterygium syndrome1 test
  • Leukemia1 test
  • Leukocyte adhesion deficiency1 test
  • Levy-Hollister syndrome1 test
  • Limb-girdle muscular dystrophy1 test
  • Linear skin defects with multiple congenital anomalies 11 test
  • Loeys-Dietz syndrome 41 test
  • Long QT syndrome 101 test
  • Long QT syndrome 131 test
  • Lung adenocarcinoma1 test
  • Lung cancer1 test
  • Lymphatic malformation 31 test
  • Lymphoid leukemia5 tests
  • Lymphoproliferative syndrome 21 test
  • Lynch syndrome1 test
  • Lysinuric protein intolerance1 test
  • Maleylacetoacetate isomerase deficiency1 test
  • Malformation of cortical development1 test
  • Malignant lymphoma, large B-cell, diffuse1 test
  • Malignant melanoma of skin1 test
  • Malignant tumor of testis1 test
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Maple syrup urine disease1 test
  • Mast cell leukemia1 test
  • Mastocytosis1 test
  • Maturity-onset diabetes of the young type 41 test
  • Meckel syndrome 131 test
  • Medulloblastoma1 test
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 31 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Meier-Gorlin syndrome 41 test
  • Melanoma, cutaneous malignant, susceptibility to, 21 test
  • MERRF/MELAS overlap syndrome2 tests
  • Mesoaxial synostotic syndactyly with phalangeal reduction1 test
  • Metabolic disease1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Metatropic dysplasia1 test
  • Microcephaly, epilepsy, and diabetes syndrome1 test
  • Microcephaly-capillary malformation syndrome1 test
  • Microcornea-myopic chorioretinal atrophy1 test
  • Microphthalmia1 test
  • Microphthalmia with brain and digit anomalies1 test
  • Microphthalmia, syndromic 11 test
  • Miller Dieker syndrome1 test
  • Miller syndrome1 test
  • Mitochondrial complex I deficiency8 tests
  • Mitochondrial complex II deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency3 tests
  • Mitochondrial complex IV deficiency, nuclear type 12 tests
  • Mitochondrial DNA depletion syndrome1 test
  • Mitochondrial DNA depletion syndrome 91 test
  • Mitochondrial DNA depletion syndrome, myopathic form1 test
  • Mitochondrial encephalomyopathy1 test
  • Mitochondrial myopathy, isolated1 test
  • Mitochondrial non-syndromic sensorineural hearing loss1 test
  • Mixed phenotype acute leukemia5 tests
  • Monocytopenia with susceptibility to infections1 test
  • Moyamoya disease1 test
  • Mucopolysaccharidosis type 71 test
  • Mucosa-associated lymphoma3 tests
  • Mulibrey nanism syndrome1 test
  • Multicentric carpo-tarsal osteolysis with or without nephropathy1 test
  • Multiple congenital anomalies7 tests
  • Multiple endocrine neoplasia type 41 test
  • Multiple myeloma4 tests
  • Multiple sulfatase deficiency1 test
  • Myasthenic syndrome, congenital, 1B, fast-channel1 test
  • Myelodysplastic syndrome4 tests
  • Myelofibrosis1 test
  • Myeloid leukemia4 tests
  • Myeloproliferative disorder, chronic, with eosinophilia1 test
  • Myeloproliferative neoplasm1 test
  • Myoclonic epilepsy of Lafora 21 test
  • Myofibrillar myopathy 21 test
  • Myofibrillar myopathy 41 test
  • Myofibrillar myopathy 61 test
  • Myopathy1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia 21 test
  • Myositis disease1 test
  • Myostatin-related muscle hypertrophy1 test
  • Myotonic dystrophy type 21 test
  • Nager syndrome1 test
  • Nance-Horan syndrome1 test
  • Nanophthalmia1 test
  • Narcolepsy 11 test
  • NARP syndrome1 test
  • Nemaline myopathy 51 test
  • Nemaline myopathy 61 test
  • Nemaline myopathy 71 test
  • Neoplasm of stomach1 test
  • Nephrolithiasis1 test
  • Nephronophthisis 141 test
  • Nephronophthisis-like nephropathy 11 test
  • Nephrotic syndrome1 test
  • Nephrotic syndrome, type 81 test
  • Neural tube defect2 tests
  • Neuroblastoma1 test
  • Neuroblastoma, susceptibility to, 31 test
  • Neurodegeneration with brain iron accumulation1 test
  • Neurodegeneration with brain iron accumulation 51 test
  • Neurodegeneration with brain iron accumulation 61 test
  • Neurogenic scapuloperoneal syndrome, Kaeser type1 test
  • Neuronal ceroid lipofuscinosis1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
  • Neuronopathy, distal hereditary motor, autosomal dominant 81 test
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2C1 test
  • Neutral lipid storage myopathy1 test
  • Non-Hodgkin lymphoma9 tests
  • Non-ketotic hyperglycinemia1 test
  • Noonan syndrome2 tests
  • Noonan-like syndrome1 test
  • Oculocutaneous albinism type 61 test
  • Oculocutaneous albinism type 71 test
  • Oculofaciocardiodental syndrome1 test
  • Odonto-onycho-dermal dysplasia1 test
  • Oguchi disease-21 test
  • Optic atrophy 10 with or without ataxia, intellectual disability, and seizures1 test
  • Orofacial cleft 51 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 91 test
  • Osteopathia striata with cranial sclerosis1 test
  • Otofaciocervical syndrome1 test
  • Palmoplantar keratoderma, epidermolytic1 test
  • Pancreatic triacylglycerol lipase deficiency1 test
  • Paragangliomas 31 test
  • Parastremmatic dwarfism1 test
  • Parietal foramina 11 test
  • Parkinson disease1 test
  • Parkinson disease 13, autosomal dominant, susceptibility to1 test
  • Parkinson disease 5, autosomal dominant, susceptibility to1 test
  • Parkinsonian-pyramidal syndrome1 test
  • Paroxysmal nonkinesigenic dyskinesia1 test
  • Peroxisome biogenesis disorder 14B1 test
  • PHARC syndrome1 test
  • Phelan-McDermid syndrome1 test
  • Pheochromocytoma3 tests
  • PHGDH deficiency1 test
  • Piebaldism1 test
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly2 tests
  • Polymicrogyria with optic nerve hypoplasia1 test
  • Pontocerebellar hypoplasia type 1A1 test
  • Pontocerebellar hypoplasia type 1B1 test
  • Pontocerebellar hypoplasia type 81 test
  • Pontocerebellar hypoplasia, type 1C1 test
  • Pontoneocerebellar hypoplasia1 test
  • Posterior column ataxia-retinitis pigmentosa syndrome1 test
  • Prader-Willi syndrome3 tests
  • Prekallikrein deficiency1 test
  • Premature ovarian failure 12 tests
  • Primary ciliary dyskinesia1 test
  • Primary ciliary dyskinesia 111 test
  • Primary ciliary dyskinesia 131 test
  • Primary ciliary dyskinesia 161 test
  • Primary ciliary dyskinesia 171 test
  • Primary ciliary dyskinesia 181 test
  • Primary ciliary dyskinesia 191 test
  • Primary ciliary dyskinesia 21 test
  • Primary ciliary dyskinesia 91 test
  • Primary myelofibrosis1 test
  • Progressive bulbar palsy of childhood1 test
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
  • Progressive myoclonic epilepsy type 31 test
  • Proteasome-associated autoinflammatory syndrome 11 test
  • PSAT deficiency1 test
  • Pseudohypoaldosteronism type 11 test
  • Pulmonary hypertension, primary, 21 test
  • Pulmonary hypertension, primary, 41 test
  • Punctate palmoplantar keratoderma type 11 test
  • Pure gonadal dysgenesis 46,XY3 tests
  • Pyruvate dehydrogenase E1-alpha deficiency1 test
  • Pyruvate dehydrogenase E1-beta deficiency1 test
  • Pyruvate dehydrogenase E3 deficiency1 test
  • Pyruvate dehydrogenase phosphatase deficiency1 test
  • Qualitative or quantitative defects of dystrophin1 test
  • Renal tubular dysgenesis1 test
  • Reticular dysgenesis1 test
  • Retinal dystrophy1 test
  • Retinitis pigmentosa1 test
  • Retinitis pigmentosa 111 test
  • Retinitis pigmentosa 171 test
  • Retinitis pigmentosa 271 test
  • Retinitis pigmentosa 281 test
  • Retinitis pigmentosa 301 test
  • Retinitis pigmentosa 311 test
  • Retinitis pigmentosa 361 test
  • Retinitis pigmentosa 41 test
  • Retinitis pigmentosa 421 test
  • Retinitis pigmentosa 441 test
  • Retinitis pigmentosa 461 test
  • Retinitis pigmentosa 481 test
  • Retinitis pigmentosa 491 test
  • Retinitis pigmentosa 501 test
  • Retinitis pigmentosa 541 test
  • Retinitis pigmentosa 551 test
  • Retinitis pigmentosa 571 test
  • Retinitis pigmentosa 581 test
  • Retinitis pigmentosa 591 test
  • Retinitis pigmentosa 611 test
  • Retinitis pigmentosa 661 test
  • Retinitis pigmentosa 71 test
  • Retinitis pigmentosa 91 test
  • Retinitis pigmentosa, juvenile1 test
  • Retinoblastoma1 test
  • Retinoschisis1 test
  • Right isomerism1 test
  • Ritscher-Schinzel syndrome 21 test
  • Robinow syndrome2 tests
  • Rod-cone dystrophy1 test
  • Salla disease1 test
  • Scalp-ear-nipple syndrome1 test
  • Schaaf-Yang syndrome1 test
  • Schinzel phocomelia syndrome1 test
  • Schnyder crystalline corneal dystrophy1 test
  • Seckel syndrome 21 test
  • Seckel syndrome 61 test
  • Senior-Loken syndrome 51 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe congenital hypochromic anemia with ringed sideroblasts1 test
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome1 test
  • Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome1 test
  • Sex-linked hereditary disorder1 test
  • Short stature due to primary acid-labile subunit deficiency1 test
  • Short stature, microcephaly, and endocrine dysfunction1 test
  • Sialuria1 test
  • Singleton-Merten syndrome 21 test
  • Smith-Magenis syndrome1 test
  • Sorsby fundus dystrophy1 test
  • Spastic ataxia 12 tests
  • Spastic Paraplegia 521 test
  • Spermatogenic failure 121 test
  • Spermatogenic failure 41 test
  • Spermatogenic failure 71 test
  • Spermatogenic failure 81 test
  • Spermatogenic failure 91 test
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 101 test
  • Spinocerebellar ataxia type 121 test
  • Spinocerebellar ataxia type 171 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 261 test
  • Spinocerebellar ataxia type 271 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia type 81 test
  • Spinocerebellar atrophy3 tests
  • Splenic marginal zone lymphoma1 test
  • Spondylo-megaepiphyseal-metaphyseal dysplasia1 test
  • Spondylo-ocular syndrome1 test
  • Spondyloepimetaphyseal dysplasia1 test
  • Spondyloepimetaphyseal dysplasia with multiple dislocations1 test
  • Spondyloepimetaphyseal dysplasia, Missouri type1 test
  • Spondylometaphyseal dysplasia1 test
  • Spondylometaphyseal dysplasia, Sedaghatian type1 test
  • SRD5A3-congenital disorder of glycosylation1 test
  • Steinert myotonic dystrophy syndrome1 test
  • STING-associated vasculopathy with onset in infancy1 test
  • Sturge-Weber syndrome1 test
  • Sulfite oxidase deficiency1 test
  • Supravalvar aortic stenosis1 test
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome1 test
  • Syndromic X-linked intellectual disability Nascimento type1 test
  • Syndromic X-linked intellectual disability Snyder type1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • Tatton-Brown-Rahman overgrowth syndrome2 tests
  • Thiopurine S-methyltransferase deficiency1 test
  • Thrombocythemia 11 test
  • Thrombocythemia 21 test
  • Thrombocytopenia 21 test
  • Thrombophilia1 test
  • Thyrotoxic periodic paralysis, susceptibility to, 21 test
  • Tooth agenesis, selective, 31 test
  • Torsion dystonia 21 test
  • Townes-Brocks syndrome 21 test
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Trichohepatoenteric syndrome 21 test
  • Trichothiodystrophy1 test
  • Trichothiodystrophy 3, photosensitive1 test
  • Trichothiodystrophy 4, nonphotosensitive1 test
  • Triosephosphate isomerase deficiency1 test
  • Trisomy X syndrome2 tests
  • Turner syndrome2 tests
  • Type A2 brachydactyly2 tests
  • Unverricht-Lundborg syndrome1 test
  • Urocanate hydratase deficiency1 test
  • Usher syndrome type 1G1 test
  • Usher syndrome type 1J1 test
  • Usher syndrome type 3A1 test
  • Usher syndrome type 3B1 test
  • UV-sensitive syndrome 31 test
  • Vesicoureteral reflux 31 test
  • VEXAS syndrome1 test
  • Waardenburg syndrome type 2D1 test
  • Walker-Warburg congenital muscular dystrophy1 test
  • Warburg micro syndrome 31 test
  • Warts, hypogammaglobulinemia, infections, and myelokathexis1 test
  • Wiedemann-Steiner syndrome1 test
  • Williams syndrome1 test
  • Wilson disease1 test
  • Wilson-Turner syndrome2 tests
  • Winchester syndrome1 test
  • Woodhouse-Sakati syndrome1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
  • X-linked intellectual disability, Cantagrel type1 test
  • X-linked intellectual disability, Stocco dos Santos type1 test
  • Xanthinuria type II1 test
  • Xeroderma pigmentosum variant type1 test
  • Zellweger spectrum disorders8 tests

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously, comments
  • Prenatal testing, comments
  • Custom Sequence Analysis, comments
  • Genetic counseling
  • Whole Exome Sequencing
  • Whole Genome Sequencing
  • Cytogenetics
  • Oncogenetics
  • Pharmaceutical Clinical trials
  • Pharmacogenomics

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D1066287, Expiration date: 2024-06-08
  • ISO15189, Number: E0020, Expiration date: 2023-12-31
  • International Organization for Standardization 9001: 2015, ISO 9, Number: certificate PT007758, Expiration date: 2025-10-12

Participation in external programs

Standardization programs

  • ISCA Consortium (International Standards for Cytogenomic Arrays)
  • Locus-specific Databases
  • Mutation-specific Databases

Data exchange Programs

  • ICCG (International Collaboration for Clinical Genetics) - Previously ISCA
  • Mutation-specific Databases

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.