GTR Home > Laboratories > ARUP Laboratories, Molecular Genetics and Genomics

ARUP Laboratories, Molecular Genetics and Genomics

GTR Lab ID: 25969, Last updated:2021-07-23

Personnel

  • Director: Pinar Bayrak-Toydemir, PhD, MD, Medical Director
    Phone: 800-242-2787 ext 3171
    Fax: 801-584-5207
    Email: pinar.bayrak@aruplab.com
  • Director: Hunter Best, PhD, Medical Director
    Phone: 800-242-2787 ext 2526
    Fax: 801-584-5207
    Email: hunter.best@aruplab.com
  • Director: Yuan Ji, PhD, Medical Director
    Phone: 800-242-2787 x3251
    Fax: 801-584-5207
    Email: yuan.ji@aruplab.com
  • Director: Rong Mao, MD, Lab Director
    Phone: 800-242-2787 ext 3165
    Fax: 801-584-5207
    Email: rong.mao@aruplab.com
  • Director: Sherin Shaaban, PhD, MD, Lab Director
    Phone: (801) 583-2787
    Fax: (801) 584-5207
    Email: sherin.shaaban@aruplab.com
  • Director: Steven Steinberg, PhD, FACMG, Lab Director
    Phone: 800-242-2787 ext 2956
    Fax: 801-584-5207
    Email: steven.steinberg@aruplab.com
  • Director: Weimin Sun, PhD, MD, Lab Director
    Phone: (801) 583-2787 x3381
    Fax: 801-584-5207
    Email: weimin.sun@aruplab.com
  • Valerie Collier, MS, CGC, Genetic Counselor
    Phone: 800-242-2787 ext 3921
    Fax: 801-584-5052
    Email: valerie.collier@aruplab.com
  • Elena Coupal, MS, CGC, Genetic Counselor
    Phone: 800-242-2787 x3370
    Fax: 801-584-5052
    Email: elena.coupal@aruplab.com
  • Stephanie Francis, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-242-2787 x3202
    Fax: 801-584-5052
    Email: stephanie.francis@aruplab.com
  • Marcia Jodah, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-242-2787 x3359
    Fax: 801-584-5052
    Email: marcia.jodah@aruplab.com
  • Patti Krautscheid, MS, CGC, Genetic Counselor
    Phone: 800-242-2787 ext 3439
    Fax: 801-584-5052
    Email: patti.krautscheid@aruplab.com
  • Christine Miller, MS, CGC, Genetic Counselor
    Phone: 800-242-2787ext2693
    Fax: 801-584-5052
    Email: millerc@aruplab.com
  • Samantha Wiley, MS, CGC, Genetic Counselor
    Phone: 800-242-2787 x2093
    Fax: 801-584-5052
    Email: samantha.wiley@aruplab.com
  • Kathryn Charyk, MS, CGC, Genetic Counselor
    Phone: 800-242-2787 ext 3850
    Fax: 801-584-5052
    Email: kathryn.charyk@aruplab.com

Conditions and tests

  • 3-Methylglutaconic aciduria type 21 test
  • Abacavir hypersensitivity1 test
  • Achondrogenesis type II2 tests
  • Achondrogenesis, type IA2 tests
  • Achondrogenesis, type IB2 tests
  • Achondroplasia4 tests
  • Acromicric dysplasia2 tests
  • Acute Recurrent Myoglobinuria1 test
  • Acyl-CoA dehydrogenase family, member 9, deficiency of1 test
  • Adenosine deaminase, elevated, hemolytic anemia due to2 tests
  • Adenylate kinase deficiency, hemolytic anemia due to2 tests
  • Adrenoleukodystrophy1 test
  • Adult hypophosphatasia1 test
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 5, autosomal dominant1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Agenesis of the corpus callosum with peripheral neuropathy2 tests
  • Allopurinol response1 test
  • alpha Thalassemia2 tests
  • Alpha trait thalassemia2 tests
  • Alpha-1-antitrypsin deficiency1 test
  • Alpha-methylacyl-CoA racemase deficiency1 test
  • Alpha-thalassemia and related diseases2 tests
  • Alport syndrome1 test
  • Alzheimer disease2 tests
  • Aminoglycoside-induced deafness1 test
  • Amyloidogenic transthyretin amyloidosis3 tests
  • Andersen Tawil syndrome1 test
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency2 tests
  • Angelman syndrome3 tests
  • ANKRD1-related dilated cardiomyopathy1 test
  • Ankylosing spondylitis1 test
  • Antley-Bixler syndrome2 tests
  • Aortic aneurysm, familial thoracic 41 test
  • Aortic aneurysm, familial thoracic 61 test
  • Aortic aneurysm, familial thoracic 71 test
  • Aortic aneurysm, familial thoracic 81 test
  • Ariboflavinosis1 test
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 101 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 111 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 121 test
  • Arrhythmogenic right ventricular cardiomyopathy, type 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Arrhythmogenic right ventricular dysplasia, familial 11 test
  • Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 test
  • Arrhythmogenic right ventricular dysplasia, familial, 21 test
  • Arterial tortuosity syndrome1 test
  • Ashkenazi Jewish disorders1 test
  • Asphyxiating thoracic dystrophy 22 tests
  • Asphyxiating thoracic dystrophy 42 tests
  • Ataxia-telangiectasia syndrome2 tests
  • Ataxia-telangiectasia-like disorder 11 test
  • Atelosteogenesis2 tests
  • Atrial fibrillation, familial, 101 test
  • Atrial fibrillation, familial, 121 test
  • Atrial fibrillation, familial, 131 test
  • Atrial fibrillation, familial, 141 test
  • Atrial fibrillation, familial, 31 test
  • Atrial fibrillation, familial, 91 test
  • Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
  • Attenuated familial adenomatous polyposis1 test
  • Autism spectrum disorder1 test
  • Autism, susceptibility to, X-linked 31 test
  • Autoimmune lymphoproliferative syndrome, type III1 test
  • Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated1 test
  • Autosomal dominant nonsyndromic deafness 61 test
  • Autosomal dominant polycystic kidney disease2 tests
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive axonal neuropathy with neuromyotonia2 tests
  • Autosomal recessive cutis laxa type 1B1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2D1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2E1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2F1 test
  • Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
  • Bannayan-Riley-Ruvalcaba syndrome2 tests
  • Becker muscular dystrophy5 tests
  • Benign scapuloperoneal muscular dystrophy with cardiomyopathy2 tests
  • Bent bone dysplasia syndrome2 tests
  • beta Thalassemia4 tests
  • Beta thalassemia intermedia2 tests
  • Beta thalassemia major2 tests
  • Beta thalassemia minor2 tests
  • Biotinidase deficiency1 test
  • Blepharophimosis - intellectual disability syndrome, SBBYS type2 tests
  • Bloom syndrome2 tests
  • Bone fragility with contractures, arterial rupture, and deafness1 test
  • Bone mineral density quantitative trait locus 181 test
  • Breast cancer, early-onset1 test
  • Breast cancer, familial male1 test
  • Breast cancer, susceptibility to1 test
  • Breast-ovarian cancer, familial 11 test
  • Breast-ovarian cancer, familial 32 tests
  • Breast-ovarian cancer, familial 42 tests
  • Bronchiectasis with or without elevated sweat chloride 15 tests
  • Brown-Vialetto-Van Laere syndrome 11 test
  • Brown-Vialetto-Van Laere syndrome 21 test
  • Bruck syndrome 21 test
  • Brugada syndrome1 test
  • Brugada syndrome 11 test
  • Brugada syndrome 21 test
  • Brugada syndrome 31 test
  • Brugada syndrome 41 test
  • Brugada syndrome 51 test
  • Brugada syndrome 61 test
  • Brugada syndrome 71 test
  • Camptomelic dysplasia2 tests
  • Capillary malformation-arteriovenous malformation3 tests
  • Carcinoma of colon1 test
  • Cardiac arrhythmia, ankyrin B-related1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardiofaciocutaneous syndrome 12 tests
  • Cardiomyopathy2 tests
  • Carney-Stratakis syndrome1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase 1A deficiency1 test
  • Carnitine palmitoyltransferase II deficiency2 tests
  • Catecholaminergic polymorphic ventricular tachycardia1 test
  • Celiac disease1 test
  • Cerebral cavernous malformation3 tests
  • Cerebral cavernous malformations 12 tests
  • Cerebral cavernous malformations 22 tests
  • Cerebral cavernous malformations 32 tests
  • Cerebral creatine deficiency syndrome1 test
  • Charcot-Marie-Tooth disease3 tests
  • Charcot-Marie-Tooth disease type 2B11 test
  • Charcot-Marie-Tooth disease type 42 tests
  • Charcot-Marie-Tooth disease, dominant intermediate B2 tests
  • Charcot-Marie-Tooth disease, type 22 tests
  • Charcot-Marie-Tooth disease, type I3 tests
  • Charcot-Marie-Tooth disease, type IA3 tests
  • Charcot-Marie-Tooth Neuropathy X2 tests
  • Childhood hypophosphatasia1 test
  • Chondrodysplasia punctata2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic obstructive pulmonary disease1 test
  • Citrullinemia type I1 test
  • Classic homocystinuria2 tests
  • Cleidocranial dysostosis2 tests
  • Cobalamin C disease1 test
  • Cole-Carpenter syndrome 11 test
  • Cole-Carpenter syndrome 21 test
  • Combined malonic and methylmalonic aciduria1 test
  • Common variable agammaglobulinemia1 test
  • Common variable immunodeficiency 11 test
  • Common variable immunodeficiency 101 test
  • Common variable immunodeficiency 21 test
  • Common variable immunodeficiency 31 test
  • Common variable immunodeficiency 41 test
  • Common variable immunodeficiency 51 test
  • Common variable immunodeficiency 61 test
  • Common variable immunodeficiency 71 test
  • Common variable immunodeficiency 8, with autoimmunity1 test
  • Congenital bilateral aplasia of vas deferens from CFTR mutation5 tests
  • Congenital bile acid synthesis defect1 test
  • Congenital contractural arachnodactyly1 test
  • Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
  • Congenital disorder of glycosylation type 1t1 test
  • Congenital hemolytic anemia1 test
  • Congenital long QT syndrome1 test
  • Congenital muscular dystrophy, LMNA-related1 test
  • Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A41 test
  • Congenital plasminogen activator inhibitor type 1 deficiency1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers2 tests
  • Costello syndrome2 tests
  • Cowden syndrome1 test
  • Cowden syndrome 13 tests
  • Cranioectodermal dysplasia2 tests
  • Crigler-Najjar syndrome, type II2 tests
  • Curry-Hall syndrome2 tests
  • Cyclical neutropenia1 test
  • CYP2C19-related poor drug metabolism1 test
  • Cystic fibrosis8 tests
  • Czech dysplasia, metatarsal type2 tests
  • Danon disease3 tests
  • Deafness, autosomal dominant 3a2 tests
  • Deafness, autosomal recessive 1A3 tests
  • Deafness, autosomal recessive 1b2 tests
  • Deafness, nonsyndromic sensorineural, mitochondrial1 test
  • Debrisoquine, poor metabolism of2 tests
  • Debrisoquine, ultrarapid metabolism of2 tests
  • Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
  • Deficiency of acetyl-CoA acetyltransferase2 tests
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of cytochrome-b5 reductase2 tests
  • Deficiency of guanidinoacetate methyltransferase1 test
  • Deficiency of hydroxymethylglutaryl-CoA lyase1 test
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase3 tests
  • Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema2 tests
  • Desmoid disease, hereditary1 test
  • Diarrhea 4, malabsorptive, congenital1 test
  • Diastrophic dysplasia2 tests
  • Dihydropyrimidine dehydrogenase deficiency1 test
  • Dilated cardiomyopathy 1A2 tests
  • Dilated cardiomyopathy 1AA1 test
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C1 test
  • Dilated cardiomyopathy 1CC1 test
  • Dilated cardiomyopathy 1DD1 test
  • Dilated cardiomyopathy 1EE1 test
  • Dilated cardiomyopathy 1G1 test
  • Dilated cardiomyopathy 1I1 test
  • Dilated cardiomyopathy 1J1 test
  • Dilated cardiomyopathy 1JJ1 test
  • Dilated cardiomyopathy 1KK1 test
  • Dilated cardiomyopathy 1L1 test
  • Dilated cardiomyopathy 1M1 test
  • Dilated cardiomyopathy 1O1 test
  • Dilated cardiomyopathy 1P1 test
  • Dilated cardiomyopathy 1R1 test
  • Dilated cardiomyopathy 1S1 test
  • Dilated cardiomyopathy 1T1 test
  • Dilated cardiomyopathy 1W1 test
  • Dilated cardiomyopathy 1X1 test
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z2 tests
  • Dilated cardiomyopathy 2A1 test
  • Dilated cardiomyopathy 3B1 test
  • Dilated cardiomyopathy with woolly hair and keratoderma1 test
  • Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome1 test
  • Disorder due cytochrome p450 CYP2C19 variant2 tests
  • Disorder due cytochrome p450 CYP2C9 variant2 tests
  • Disorder due cytochrome p450 CYP2D6 variant2 tests
  • Disorders of Intracellular Cobalamin Metabolism1 test
  • Distal arthrogryposis1 test
  • Distal hereditary motor neuronopathy2 tests
  • Distal myopathy, Tateyama type1 test
  • Distal spinal muscular atrophy, X-linked 32 tests
  • Drug metabolism or response2 tests
  • DRUG METABOLISM, ALTERED, CYP2C8-RELATED2 tests
  • Duchenne muscular dystrophy5 tests
  • Dystrophinopathies4 tests
  • Ectodermal dysplasia and immunodeficiency 11 test
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, hydroxylysine-deficient1 test
  • Ehlers-Danlos syndrome, type 41 test
  • Ellis-van Creveld syndrome2 tests
  • Emery-Dreifuss muscular dystrophy1 test
  • Emery-Dreifuss muscular dystrophy 1, X-linked1 test
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
  • Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 11 test
  • Endometrial carcinoma1 test
  • Epilepsy, progressive myoclonic 2b1 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Erythrocyte Alloimmunization1 test
  • Erythrocyte lactate transporter defect1 test
  • Fabry disease2 tests
  • Familial adenomatous polyposis 13 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial atrial fibrillation1 test
  • Familial cancer of breast3 tests
  • Familial cold autoinflammatory syndrome1 test
  • Familial cold autoinflammatory syndrome 31 test
  • Familial colorectal cancer2 tests
  • Familial dysautonomia4 tests
  • Familial hypercholesterolemia1 test
  • Familial hypertrophic cardiomyopathy 12 tests
  • Familial hypertrophic cardiomyopathy 102 tests
  • Familial hypertrophic cardiomyopathy 112 tests
  • Familial hypertrophic cardiomyopathy 122 tests
  • Familial hypertrophic cardiomyopathy 132 tests
  • Familial hypertrophic cardiomyopathy 141 test
  • Familial hypertrophic cardiomyopathy 151 test
  • Familial hypertrophic cardiomyopathy 161 test
  • Familial hypertrophic cardiomyopathy 172 tests
  • Familial hypertrophic cardiomyopathy 182 tests
  • Familial hypertrophic cardiomyopathy 22 tests
  • Familial hypertrophic cardiomyopathy 201 test
  • Familial hypertrophic cardiomyopathy 32 tests
  • Familial hypertrophic cardiomyopathy 42 tests
  • Familial hypertrophic cardiomyopathy 63 tests
  • Familial hypertrophic cardiomyopathy 72 tests
  • Familial hypertrophic cardiomyopathy 82 tests
  • Familial hypertrophic cardiomyopathy 91 test
  • Familial Mediterranean fever2 tests
  • Familial medullary thyroid carcinoma1 test
  • Familial partial lipodystrophy 21 test
  • Familial pulmonary capillary hemangiomatosis1 test
  • Familial restrictive cardiomyopathy1 test
  • Familial restrictive cardiomyopathy 12 tests
  • Familial restrictive cardiomyopathy 32 tests
  • Familial type 3 hyperlipoproteinemia1 test
  • Fanconi anemia, complementation group C2 tests
  • Fanconi anemia, complementation group J1 test
  • Fanconi anemia, complementation group N1 test
  • Fanconi anemia, complementation group O1 test
  • Fanconi-Bickel syndrome1 test
  • Fatty liver disease, nonalcoholic 11 test
  • Fatty liver disease, nonalcoholic 21 test
  • Febrile seizures, familial, 11 test
  • Fentanyl response1 test
  • Fetal hemoglobin quantitative trait locus 13 tests
  • Fibrochondrogenesis 21 test
  • Fluorouracil response1 test
  • Fragile X syndrome3 tests
  • Fragile X tremor/ataxia syndrome2 tests
  • Frontometaphyseal dysplasia 12 tests
  • Fructose-biphosphatase deficiency1 test
  • Galactosemia2 tests
  • Gardner syndrome1 test
  • Gaucher disease2 tests
  • Gaucher disease type 3C2 tests
  • Gaucher disease type I2 tests
  • Gaucher disease type II2 tests
  • Gaucher disease type III2 tests
  • Gaucher disease, atypical, due to saposin C deficiency1 test
  • Gaucher disease, perinatal lethal2 tests
  • Geleophysic dysplasia 22 tests
  • Generalized juvenile polyposis/juvenile polyposis coli1 test
  • Genetic prion disease1 test
  • Geroderma osteodysplastica1 test
  • Giant axonal neuropathy 12 tests
  • Gilbert syndrome1 test
  • Glomuvenous malformations1 test
  • Glucose 6 phosphate dehydrogenase deficiency2 tests
  • Glucose-6-phosphate transport defect1 test
  • Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to2 tests
  • Glycogen storage disease1 test
  • Glycogen storage disease 0, muscle1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
  • Glycogen storage disease due to hepatic glycogen synthase deficiency1 test
  • Glycogen storage disease due to muscle beta-enolase deficiency1 test
  • Glycogen storage disease IIIa1 test
  • Glycogen storage disease IIIb1 test
  • Glycogen storage disease IXa21 test
  • Glycogen storage disease IXb1 test
  • Glycogen storage disease IXc1 test
  • Glycogen storage disease IXd1 test
  • Glycogen storage disease of heart, lethal congenital1 test
  • Glycogen storage disease type IXa11 test
  • Glycogen storage disease type X1 test
  • Glycogen storage disease XI1 test
  • Glycogen storage disease XV1 test
  • Glycogen storage disease, type II3 tests
  • Glycogen storage disease, type IV1 test
  • Glycogen storage disease, type V1 test
  • Glycogen storage disease, type VI1 test
  • Glycogen storage disease, type VII3 tests
  • Gnathodiaphyseal dysplasia1 test
  • Gorlin syndrome1 test
  • Greenberg dysplasia2 tests
  • Hb SS disease4 tests
  • Heart, malformation of1 test
  • Heart-hand syndrome, Slovenian type1 test
  • Heinz body anemia2 tests
  • Hemochromatosis type 11 test
  • Hemoglobin H disease4 tests
  • Hemoglobin H disease, nondeletional1 test
  • Hemoglobinopathy3 tests
  • Hemolytic anemia2 tests
  • Hemolytic anemia due to hexokinase deficiency2 tests
  • Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency2 tests
  • Hemolytic disease of fetus OR newborn due to isoimmunization5 tests
  • Hemophilia1 test
  • Hemophilia B Brandenburg1 test
  • Hemophilia B Leyden1 test
  • Hemophilia b(m)1 test
  • Hennekam lymphangiectasia-lymphedema syndrome 11 test
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hereditary breast and ovarian cancer syndrome3 tests
  • Hereditary cancer-predisposing syndrome2 tests
  • Hereditary diffuse gastric cancer3 tests
  • Hereditary disease3 tests
  • Hereditary elliptocytosis2 tests
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease4 tests
  • Hereditary fructosuria1 test
  • Hereditary hearing loss and deafness1 test
  • Hereditary hemorrhagic telangiectasia2 tests
  • Hereditary hemorrhagic telangiectasia type 11 test
  • Hereditary insensitivity to pain with anhidrosis2 tests
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies3 tests
  • Hereditary lymphedema type I1 test
  • Hereditary motor and sensory neuropathy2 tests
  • Hereditary nonpolyposis colon cancer1 test
  • Hereditary nonpolyposis colorectal cancer type 41 test
  • Hereditary nonpolyposis colorectal cancer type 52 tests
  • Hereditary nonpolyposis colorectal cancer type 81 test
  • Hereditary pancreatitis9 tests
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes5 tests
  • Hereditary pyropoikilocytosis2 tests
  • Hereditary sensory and autonomic neuropathy type 12 tests
  • Hereditary sensory and autonomic neuropathy type II2 tests
  • Hereditary sensory neuropathy type 1D2 tests
  • Hereditary sensory neuropathy type IE2 tests
  • Hereditary spastic paraplegia2 tests
  • Hereditary spherocytosis2 tests
  • Heterotaxia1 test
  • Hexosaminidase A deficiency, adult type1 test
  • HNSHA due to aldolase A deficiency3 tests
  • Holoprosencephaly 22 tests
  • Holoprosencephaly 32 tests
  • Holoprosencephaly 42 tests
  • Holoprosencephaly 52 tests
  • Holoprosencephaly 92 tests
  • Holoprosencephaly sequence2 tests
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
  • Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type1 test
  • HSD10 disease1 test
  • Huntington disease1 test
  • Hutchinson-Gilford syndrome1 test
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 21 test
  • Hyper-IgM syndrome type 31 test
  • Hyper-IgM syndrome type 51 test
  • Hypercoagulability3 tests
  • Hyperimmunoglobulin D with periodic fever1 test
  • Hyperinsulinemic hypoglycemia, familial, 12 tests
  • Hyperlipoproteinemia1 test
  • Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
  • Hypertrichotic osteochondrodysplasia Cantu type1 test
  • Hypertrophic cardiomyopathy 251 test
  • Hypochondrogenesis2 tests
  • Hypochondroplasia2 tests
  • Hypophosphatasia3 tests
  • Hypophosphatemic rickets, X-linked recessive1 test
  • Hypotrichosis-lymphedema-telangiectasia syndrome1 test
  • Hystrix-like ichthyosis with deafness3 tests
  • Imerslund-Gräsbeck syndrome1 test
  • Immunodeficiency 141 test
  • Immunoglobulin A deficiency 21 test
  • Infantile hypophosphatasia1 test
  • Insulin-resistant diabetes mellitus AND acanthosis nigricans1 test
  • Intellectual disability1 test
  • Intrinsic factor deficiency1 test
  • Irinotecan response1 test
  • Isolated ectopia lentis2 tests
  • Jarcho-Levin syndrome2 tests
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Jeune thoracic dystrophy2 tests
  • Joubert syndrome 22 tests
  • Juvenile (Subacute) Hexosaminidase A Deficiency1 test
  • Juvenile polyposis syndrome2 tests
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
  • Keratitis-ichthyosis-deafness syndrome, autosomal dominant3 tests
  • Kniest dysplasia2 tests
  • Knuckle pads, deafness AND leukonychia syndrome2 tests
  • Langer mesomelic dysplasia syndrome1 test
  • Larsen syndrome2 tests
  • LCHAD Deficiency1 test
  • Left ventricular noncompaction2 tests
  • Left ventricular noncompaction 11 test
  • Left ventricular noncompaction 101 test
  • Left ventricular noncompaction 41 test
  • Left ventricular noncompaction 62 tests
  • Legius syndrome3 tests
  • Leprechaunism syndrome1 test
  • Leri-Weill dyschondrosteosis1 test
  • Lethal Kniest-like syndrome2 tests
  • Lethal tight skin contracture syndrome1 test
  • Leukoencephalopathy with dystonia and motor neuropathy1 test
  • Li-Fraumeni syndrome5 tests
  • Limb-girdle muscular dystrophy1 test
  • Limb-girdle muscular dystrophy, type 2J1 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C41 test
  • Limb-girdle muscular dystrophy-dystroglycanopathy, type C51 test
  • Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency1 test
  • Loeys-Dietz syndrome1 test
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 21 test
  • Loeys-Dietz syndrome 31 test
  • Loeys-Dietz syndrome 41 test
  • Long QT syndrome2 tests
  • Long QT syndrome 101 test
  • Long QT syndrome 111 test
  • Long QT syndrome 121 test
  • Long QT syndrome 21 test
  • Long QT syndrome 31 test
  • Long QT syndrome 41 test
  • Long QT syndrome 51 test
  • Long QT syndrome 61 test
  • Long QT syndrome 91 test
  • Lymphedema, hereditary, ID1 test
  • Lymphedema, hereditary, III1 test
  • Lymphedema, primary, with myelodysplasia1 test
  • Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
  • Lymphoproliferative syndrome 1, X-linked1 test
  • Lymphoproliferative syndrome 2, X-linked1 test
  • Lynch syndrome3 tests
  • Lynch syndrome II2 tests
  • Macrocephaly/autism syndrome1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Majeed syndrome1 test
  • Malignant hyperthermia1 test
  • Malignant hyperthermia susceptibility1 test
  • Mandibuloacral dysplasia with type A lipodystrophy1 test
  • Maple syrup urine disease type 1B2 tests
  • Maple syrup urine disease, type 32 tests
  • Marfan syndrome3 tests
  • MASS syndrome2 tests
  • Maturity-onset diabetes of the young type 41 test
  • Maturity-onset diabetes of the young type 61 test
  • Maturity-onset diabetes of the young type 71 test
  • Maturity-onset diabetes of the young type 81 test
  • Maturity-onset diabetes of the young type 91 test
  • Maturity-onset diabetes of the young, type 11 test
  • Maturity-onset diabetes of the young, type 101 test
  • Maturity-onset diabetes of the young, type 111 test
  • Maturity-onset diabetes of the young, type 131 test
  • Maturity-onset diabetes of the young, type 141 test
  • Maturity-onset diabetes of the young, type 21 test
  • Maturity-onset diabetes of the young, type 31 test
  • Medium-chain 3-ketoacyl-CoA thiolase deficiency1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency3 tests
  • Medulloblastoma1 test
  • Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
  • Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
  • Melanoma1 test
  • Mental retardation 3, X-linked1 test
  • Mental retardation, X-linked, syndromic 131 test
  • Mental retardation, X-linked, syndromic, martin-probst type2 tests
  • Metachondromatosis1 test
  • Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly2 tests
  • Metatrophic dysplasia2 tests
  • Methemoglobinemia, type I2 tests
  • Methylcobalamin deficiency type cblG1 test
  • Methylmalonic acidemia with homocystinuria cblD1 test
  • Methylmalonic acidemia with homocystinuria, type cblJ1 test
  • Methylmalonic aciduria and homocystinuria type cblF1 test
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Methylmalonic aciduria due to transcobalamin receptor defect1 test
  • Methylmalonyl-CoA epimerase deficiency1 test
  • Microcephaly, normal intelligence and immunodeficiency2 tests
  • Microcephaly-capillary malformation syndrome1 test
  • Mitchell syndrome1 test
  • Mitchell-Riley syndrome1 test
  • mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
  • Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive1 test
  • Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)1 test
  • Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)1 test
  • Mitochondrial short-chain enoyl-coa hydratase 1 deficiency1 test
  • Mitochondrial trifunctional protein deficiency1 test
  • Monocarboxylate transporter 1 deficiency1 test
  • Morphine response1 test
  • MTHFR deficiency, thermolabile type2 tests
  • Mucolipidosis type IV2 tests
  • Muir-Torré syndrome3 tests
  • Multiple acyl-CoA dehydrogenase deficiency1 test
  • Multiple cutaneous and mucosal venous malformations1 test
  • Multiple endocrine neoplasia, type 14 tests
  • Multiple endocrine neoplasia, type 21 test
  • Multiple endocrine neoplasia, type 2a1 test
  • Multiple endocrine neoplasia, type 2b1 test
  • Multiple endocrine neoplasia, type 41 test
  • Multiple fibrofolliculomas2 tests
  • Muscular dystrophy, limb-girdle, type 2R1 test
  • Myelodysplastic syndrome1 test
  • MYH-associated polyposis5 tests
  • Myocardial infarction 11 test
  • Myofibrillar myopathy 11 test
  • Myofibrillar myopathy 31 test
  • Myofibrillar myopathy, ZASP-related1 test
  • Myopathy, distal, 11 test
  • Myopathy, early-onset, with fatal cardiomyopathy1 test
  • Myopathy, myofibrillar, 9, with early respiratory failure1 test
  • Myotonic dystrophy1 test
  • Narcolepsy 11 test
  • Naxos disease1 test
  • Nemaline myopathy 22 tests
  • Neonatal diabetes mellitus1 test
  • Nephronophthisis1 test
  • Neuroblastoma1 test
  • Neurofibromatosis, type 11 test
  • Neurofibromatosis, type 21 test
  • Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive2 tests
  • Neutropenia, severe congenital 1, autosomal dominant1 test
  • Niemann-Pick disease, type A2 tests
  • Noonan syndrome2 tests
  • Noonan syndrome 11 test
  • Noonan syndrome with multiple lentigines2 tests
  • Noonan syndrome-like disorder with loose anagen hair1 test
  • Noonan syndrome-like disorder with loose anagen hair 11 test
  • Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia3 tests
  • Optic atrophy1 test
  • Ornithine carbamoyltransferase deficiency1 test
  • Osteogenesis imperfecta3 tests
  • Osteogenesis imperfecta type 1, mild1 test
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 71 test
  • Osteogenesis imperfecta type 81 test
  • Osteogenesis imperfecta type 91 test
  • Osteogenesis imperfecta type I1 test
  • Osteogenesis imperfecta type III1 test
  • Osteogenesis imperfecta, CREB3L1 related1 test
  • OSTEOGENESIS IMPERFECTA, TYPE IIC1 test
  • Osteogenesis imperfecta, type III/IV1 test
  • Osteogenesis imperfecta, type VI1 test
  • Osteogenesis imperfecta, type XI1 test
  • Osteogenesis imperfecta, type xiii1 test
  • Osteogenesis imperfecta, type xiv1 test
  • Osteogenesis imperfecta, type xv1 test
  • Osteogenesis imperfecta, type xvi1 test
  • Osteogenesis imperfecta, type xvii1 test
  • Osteoglophonic dysplasia2 tests
  • Osteoporosis with pseudoglioma1 test
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant1 test
  • Palmoplantar keratoderma-deafness syndrome2 tests
  • Pancreatic agenesis and congenital heart disease1 test
  • Paragangliomas 12 tests
  • Paragangliomas 32 tests
  • Paragangliomas 42 tests
  • Paragangliomas 51 test
  • Parastremmatic dwarfism2 tests
  • Parkes Weber syndrome2 tests
  • Pendred syndrome1 test
  • Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease2 tests
  • Peripheral neuropathy, myopathy, hoarseness, and hearing loss2 tests
  • Peroxisomal acyl-CoA oxidase deficiency1 test
  • Perrault syndrome1 test
  • Perrault syndrome 11 test
  • Perry syndrome2 tests
  • Peutz-Jeghers syndrome4 tests
  • Pheochromocytoma3 tests
  • Phosphoglycerate kinase 1 deficiency3 tests
  • Phytanic acid storage disease1 test
  • Pilomatrixoma1 test
  • Pineal hyperplasia AND diabetes mellitus syndrome1 test
  • Platyspondylic dysplasia, Torrance type2 tests
  • Polyglucosan body myopathy1 test
  • Polyglucosan body myopathy type 11 test
  • Prader-Willi syndrome2 tests
  • Primary ciliary dyskinesia2 tests
  • Primary dilated cardiomyopathy2 tests
  • Primary familial hypertrophic cardiomyopathy2 tests
  • Primary hyperoxaluria1 test
  • Primary pulmonary hypertension2 tests
  • Primary pulmonary hypertension 21 test
  • Primary pulmonary hypertension 31 test
  • Primary pulmonary hypertension 42 tests
  • Prion disease1 test
  • Progressive familial heart block type IB1 test
  • Progressive familial heart block, type 1A1 test
  • Propionic acidemia1 test
  • Proteus syndrome2 tests
  • Proteus-like syndrome1 test
  • Pseudo von Willebrand disease1 test
  • Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
  • Pseudohypoaldosteronism type 2D1 test
  • PTEN hamartoma tumor syndrome4 tests
  • Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyruvate kinase deficiency of red cells3 tests
  • Rasopathy2 tests
  • Renal carnitine transport defect2 tests
  • Renal cell carcinoma, papillary, 12 tests
  • Retinal dystrophy with leukodystrophy1 test
  • Retinitis pigmentosa 82 with or without situs inversus1 test
  • Retinoblastoma1 test
  • Rett syndrome1 test
  • Rhabdoid tumor predisposition syndrome 11 test
  • Rhizomelic chondrodysplasia punctata3 tests
  • Rhizomelic chondrodysplasia punctata type 11 test
  • Rhizomelic chondrodysplasia punctata type 21 test
  • Rhizomelic chondrodysplasia punctata type 31 test
  • Rhizomelic chondrodysplasia punctata type 51 test
  • Rippling muscle disease1 test
  • Rippling muscle disease 21 test
  • Rotor syndrome2 tests
  • Schneckenbecken dysplasia2 tests
  • Schwartz-Jampel syndrome2 tests
  • Severe autosomal recessive muscular dystrophy of childhood - North African type1 test
  • Severe combined immunodeficiency due to ADA deficiency1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive1 test
  • Severe neonatal-onset encephalopathy with microcephaly1 test
  • short QT syndrome2 tests
  • Short QT syndrome 11 test
  • Short QT syndrome 21 test
  • Short QT syndrome 31 test
  • Short rib-polydactyly syndrome, Majewski type2 tests
  • Short stature, idiopathic, autosomal1 test
  • Short-rib thoracic dysplasia 3 with or without polydactyly2 tests
  • Shprintzen-Goldberg syndrome3 tests
  • Sick sinus syndrome 1, autosomal recessive1 test
  • Sickle cell-beta-thalassemia3 tests
  • Sickle cell-hemoglobin C disease3 tests
  • Sickle cell-hemoglobin D disease3 tests
  • Sickle cell-Hemoglobin O Arab disease3 tests
  • Silver-Russell syndrome 11 test
  • Silver-Russell syndrome due to an imprinting defect of 11p151 test
  • Skeletal dysplasia2 tests
  • Slowed nerve conduction velocity, autosomal dominant2 tests
  • Smith-Lemli-Opitz syndrome1 test
  • Spermatogenic failure, Y-linked 21 test
  • Spinal muscular atrophy5 tests
  • Spinal muscular atrophy, distal, autosomal recessive, 12 tests
  • Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant2 tests
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 11 test
  • Spondylocarpotarsal synostosis syndrome2 tests
  • Spondyloepiphyseal dysplasia congenita2 tests
  • Spondyloperipheral dysplasia-short ulna syndrome2 tests
  • Spongy degeneration of central nervous system2 tests
  • Statin-induced myopathy1 test
  • Steinert myotonic dystrophy syndrome1 test
  • Stickler syndrome1 test
  • Stickler syndrome type 11 test
  • Stickler syndrome type 21 test
  • Stickler syndrome, type 41 test
  • Stickler syndrome, type 51 test
  • Stiff skin syndrome2 tests
  • Stüve-Wiedemann syndrome2 tests
  • Succinyl-CoA acetoacetate transferase deficiency1 test
  • SUDDEN INFANT DEATH SYNDROME1 test
  • Syndromic X-linked intellectual disability Lubs type1 test
  • Tay-Sachs disease5 tests
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Telangiectasia, hereditary hemorrhagic, type 52 tests
  • Terminal osseous dysplasia2 tests
  • Thalassemia3 tests
  • Thalassemia intermedia2 tests
  • Thanatophoric dysplasia type 14 tests
  • Thanatophoric dysplasia, type 24 tests
  • Thiopurine response1 test
  • Thrombophilia due to factor V Leiden2 tests
  • Thrombophilia due to thrombin defect1 test
  • Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
  • Timothy syndrome1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Transcolabamin II deficiency1 test
  • Transcription level of plasminogen activator inhibitor 11 test
  • Triosephosphate isomerase deficiency2 tests
  • Tropical calcific pancreatitis1 test
  • Tuberous sclerosis 14 tests
  • Tuberous sclerosis 24 tests
  • Tuberous sclerosis syndrome3 tests
  • Tumor susceptibility linked to germline BAP1 mutations2 tests
  • Turcot syndrome5 tests
  • Type II Collagenopathies2 tests
  • Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to2 tests
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F3 tests
  • Usher syndrome type 21 test
  • Usher syndrome, type 1B1 test
  • Usher syndrome, type 1C1 test
  • Usher syndrome, type 1G1 test
  • Usher syndrome, type 2C1 test
  • Usher syndrome, type 2D1 test
  • Usher Syndrome, Type III3 tests
  • VACTERL association with hydrocephalus1 test
  • Van Maldergem syndrome 21 test
  • Vascular malformation, primary intraosseous1 test
  • Ventricular tachycardia, catecholaminergic polymorphic, 21 test
  • Vertical talus, congenital2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency2 tests
  • Vitamin B12-responsive methylmalonic acidemia type cblA1 test
  • Vitamin B12-responsive methylmalonic acidemia type cblB1 test
  • Vitamin D-dependent rickets type 1A1 test
  • Von Hippel-Lindau syndrome4 tests
  • Wagner syndrome1 test
  • Warfarin response1 test
  • Weill-Marchesani syndrome 22 tests
  • Wilson disease1 test
  • Wolff-Parkinson-White pattern2 tests
  • X-linked agammaglobulinemia1 test
  • Zellweger Spectrum Disorder1 test

List of services

  • Identity Testing: Order Code: 0050547
  • Mutation Confirmation: Order Code: 2001961, comments
  • Clinical Testing/Confirmation of Mutations Identified Previously: Order Code: 2001961, 2001980, comments
  • Specimen Source Identification: Order Code: 2002067, 2002066, 2002064, 2002065, comments
  • Whole Exome Sequencing: Order Code: 2006332, 2006336
  • X-Chromosome Inactivation Studies: Order Code: 2006352
  • Custom Deletion/Duplication Testing: Order Code: 3003144, comments

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 46D0523979, Expiration date: 2023-02-08
  • AABB, Number: NA, Expiration date: 2021-12-31
  • CAP, Number: 4096301, Expiration date: 2021-11-20
  • ISO15189, Number: NA, Expiration date: 2022-08-15

Licenses

  • CA - California Department of Public Health CDPH, Number: CDS00800007, Expiration date: 2021-12-31
  • MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 516, Effective date: 2018-07-01 Non-expiring
  • NY - New York State Department of Health NYSDOH, Number: 4196, Expiration date: 2022-06-30
  • OH - Ohio Department of Health ODH, Number: C10046, Expiration date: 2022-07-07
  • PA - Pennsylvania Department of Health PADOH, Number: 21613A, Expiration date: 2021-08-15
  • RI - State of Rhode Island Department of Health RIDOH, Number: LCO00429, Expiration date: 2022-12-30
  • UT - Utah Department of Health UDOH, Number: 262529-1714, Expiration date: 2021-09-30
  • UT - Utah Department of Health UDOH, Number: 262529-8915, Expiration date: 2021-09-30
  • WV - West Virginia Department of Health and Human Resources DHHR, Number: HIV-RL-50, Expiration date: 2021-12-31

Participation in external programs

Standardization programs

  • Locus-specific Databases
  • Mutation-specific Databases

Data exchange Programs

  • Locus-specific Databases
  • 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.

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