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GTR Home > Laboratories > Mayo Clinic Laboratories

Mayo Clinic Laboratories

GTR Lab ID: 500068, Last updated:2022-05-31

Personnel

  • Director: William Morice, PhD, MD, Lab Director
    Phone: 1-800-533-1710
  • Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Fax: 507-538-4158
    Email: biochemicalgenetics@mayo.edu
  • Jessica Bortnova, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu
  • Sarah Brunker, PhD, MS, MPH, Genetic Counselor
    Phone: 1-800-533-1710
    Fax: 507-284-5115
    Email: rstgchemepath@mayo.edu
  • Huong Cabral, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu
  • Jennifer Hayman, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Fax: 507-284-0043
    Email: gccytogenetics@mayo.edu
  • Megan Hoenig, MS, MPH, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu
  • Megan Holdren, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu
  • Michelle Kluge, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Fax: 507-284-0670
    Email: rstgccbi@mayo.edu
  • Emily Lauer, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Fax: 507-284-0670
    Email: gcmolgen@mayo.edu
  • Tavanna Porter, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu
  • Elizabeth Selner, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-533-1710
    Email: gcmolgen@mayo.edu
  • Emily Thoreson, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu
  • Antonina Wojcik, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu

Conditions and tests

  • 2-hydroxyglutaric aciduria1 test
  • 3-Methylglutaconic aciduria1 test
  • 3-Methylglutaconic aciduria type 24 tests
  • 46,xx gonadal dysgenesis, complete, sry-positive1 test
  • 46,XX testicular disorder of sex development1 test
  • Abacavir hypersensitivity1 test
  • Abnormality of neuronal migration1 test
  • Acrodysostosis 1 with or without hormone resistance1 test
  • Activated PI3K-delta syndrome1 test
  • Acute intermittent porphyria2 tests
  • Acute myeloid leukemia2 tests
  • Adams-Oliver syndrome 51 test
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adrenoleukodystrophy1 test
  • Adult hypophosphatasia1 test
  • Adult Krabbe disease1 test
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy1 test
  • Afibrinogenemia1 test
  • Agammaglobulinemia1 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 recessive2 tests
  • Agammaglobulinemia 8, autosomal dominant1 test
  • Aganglionic megacolon1 test
  • Alagille syndrome due to a JAG1 point mutation3 tests
  • Alagille syndrome due to a NOTCH2 point mutation3 tests
  • ALG1-congenital disorder of glycosylation1 test
  • Alkaptonuria1 test
  • Allopurinol response1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alport syndrome2 tests
  • Alzheimer disease 21 test
  • Ambiguous genitalia1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis1 test
  • Amyotrophic neuralgia1 test
  • Andersen Tawil syndrome2 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency4 tests
  • Aneurysmal bone cyst1 test
  • Angelman syndrome2 tests
  • Angelman syndrome due to paternal uniparental disomy of chromosome 151 test
  • ANKRD1-related dilated cardiomyopathy2 tests
  • Anomaly of sex chromosome3 tests
  • Antenatal Bartter syndrome1 test
  • Aortic valve disease 11 test
  • Apolipoprotein A-II deficiency1 test
  • Arrhythmogenic cardiomyopathy2 tests
  • Arrhythmogenic cardiomyopathy with woolly hair and keratoderma1 test
  • Arrhythmogenic right ventricular dysplasia 102 tests
  • Arrhythmogenic right ventricular dysplasia 111 test
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair1 test
  • Arrhythmogenic right ventricular dysplasia 122 tests
  • Arrhythmogenic right ventricular dysplasia 22 tests
  • Arrhythmogenic right ventricular dysplasia 52 tests
  • Arrhythmogenic right ventricular dysplasia 82 tests
  • Arrhythmogenic right ventricular dysplasia 92 tests
  • Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 test
  • Arterial tortuosity syndrome1 test
  • Asperger syndrome, susceptibility to1 test
  • Ataxia-telangiectasia syndrome1 test
  • Atazanavir response2 tests
  • Atomoxetine response1 test
  • Atorvastatin response1 test
  • Atypical hemolytic-uremic syndrome2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
  • Autism spectrum disorder2 tests
  • Autoimmune disease, multisystem, infantile-onset, 21 test
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
  • Autoimmune lymphoproliferative syndrome type 11 test
  • Autoimmune lymphoproliferative syndrome type 41 test
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
  • Autoinflammatory syndrome1 test
  • Autoinflammatory syndrome, familial, Behcet-like1 test
  • Autosomal chromosomal disorder5 tests
  • Autosomal dominant hypocalcemia2 tests
  • Autosomal dominant hypocalcemia 21 test
  • Autosomal dominant medullary cystic kidney disease with or without hyperuricemia1 test
  • Autosomal dominant polycystic kidney disease2 tests
  • Autosomal dominant polycystic liver disease1 test
  • Autosomal recessive agammaglobulinemia 11 test
  • Autosomal recessive dyskeratosis congenita 41 test
  • Autosomal recessive familial Mediterranean fever1 test
  • Autosomal recessive lower motor neuron disease with childhood onset1 test
  • Autosomal recessive polycystic kidney disease2 tests
  • Autosomal recessive severe congenital neutropenia1 test
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
  • Autosomal uniparental disomy1 test
  • Azathioprine response1 test
  • Azorean disease1 test
  • B Acute Lymphoblastic Leukemia1 test
  • BAP1-related tumor predisposition syndrome1 test
  • Bare lymphocyte syndrome type 2, complementation group A1 test
  • Bartter disease type 12 tests
  • Bartter disease type 22 tests
  • Bartter disease type 32 tests
  • Bartter disease type 4a2 tests
  • Bartter disease type 4B1 test
  • Bartter disease type 52 tests
  • Bartter syndrome3 tests
  • Bartter Syndrome Type 4B, CLCNKA/CLCNKB Digenic1 test
  • Bartter syndrome with hypocalcemia1 test
  • Batten-Turner congenital myopathy1 test
  • Becker muscular dystrophy1 test
  • Beckwith-Wiedemann syndrome2 tests
  • Belinostat response2 tests
  • BENTA disease1 test
  • Beta-thalassemia and related diseases1 test
  • Biotinidase deficiency1 test
  • Blau syndrome1 test
  • Brain small vessel disease 1 with or without ocular anomalies1 test
  • Brugada syndrome1 test
  • Bupropion response1 test
  • Burkitt lymphoma1 test
  • Capecitabine response2 tests
  • Capillary malformation-arteriovenous malformation 11 test
  • Carbamazepine hypersensitivity1 test
  • Carbamazepine response1 test
  • Cardiac valvular dysplasia, X-linked1 test
  • Cardiofaciocutaneous syndrome 12 tests
  • Cardiofaciocutaneous syndrome 22 tests
  • Cardiofaciocutaneous syndrome 32 tests
  • Cardiofaciocutaneous syndrome 42 tests
  • Cardiomyopathy1 test
  • Cardiomyopathy, hypertrophic, 1, digenic2 tests
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC2 tests
  • Carney complex1 test
  • Carney complex, type 11 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyltransferase II deficiency1 test
  • Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders1 test
  • Catechol-o-methyltransferase deficiency1 test
  • Catecholaminergic polymorphic ventricular tachycardia2 tests
  • CBL-related disorder2 tests
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cernunnos-XLF deficiency1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • CHARGE association1 test
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Chlorpropamide response1 test
  • Cholestanol storage disease3 tests
  • Cholestasis, infantile, NR1H4 related1 test
  • Cholestasis, progressive familial intrahepatic, 41 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Chromosome 22q11.2 microduplication syndrome1 test
  • Chronic granulomatous disease2 tests
  • Chronic infantile neurological, cutaneous and articular syndrome1 test
  • Chronic myelomonocytic leukemia1 test
  • Citalopram response2 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic homocystinuria2 tests
  • Clopidogrel response1 test
  • Coats plus syndrome1 test
  • Cobalamin C disease1 test
  • Codeine response1 test
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Cohen syndrome1 test
  • COL4A1 or COL4A2-related cerebral small vessel disease1 test
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Colon cancer1 test
  • Colorectal / endometrial cancer2 tests
  • Colorectal cancer1 test
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
  • Combined immunodeficiency due to CD3gamma deficiency2 tests
  • Combined immunodeficiency due to DOCK8 deficiency1 test
  • Combined immunodeficiency due to LRBA deficiency2 tests
  • Combined immunodeficiency due to MALT1 deficiency2 tests
  • Combined immunodeficiency due to ORAI1 deficiency1 test
  • Combined immunodeficiency due to OX40 deficiency1 test
  • Combined immunodeficiency due to partial RAG1 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency1 test
  • Combined immunodeficiency due to STK4 deficiency1 test
  • Combined immunodeficiency due to ZAP70 deficiency1 test
  • Combined immunodeficiency with faciooculoskeletal anomalies1 test
  • Combined immunodeficiency with skin granulomas2 tests
  • Combined immunodeficiency, X-linked2 tests
  • Complement 3 glomerulopathy1 test
  • Complete trisomy 13 syndrome3 tests
  • Complete trisomy 18 syndrome3 tests
  • Complete trisomy 21 syndrome3 tests
  • Comprehensive testing for inherited renal disease1 test
  • Congenital adrenal hyperplasia1 test
  • Congenital afibrinogenemia2 tests
  • Congenital bilateral aplasia of vas deferens from CFTR mutation2 tests
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital chromosomal disease5 tests
  • Congenital contractural arachnodactyly1 test
  • Congenital defect of folate absorption1 test
  • Congenital disorder of glycosylation3 tests
  • Congenital dyserythropoietic anemia2 tests
  • Congenital dyserythropoietic anemia type 41 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital long QT syndrome1 test
  • Congenital myasthenic syndrome1 test
  • Congenital myopathy1 test
  • Congenital nephrotic syndrome - interstitial lung disease - epidermolysis bullosa syndrome1 test
  • Congenital neutropenia1 test
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
  • Congenital prothrombin deficiency1 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Costello syndrome2 tests
  • Cranioectodermal dysplasia 21 test
  • Crigler-Najjar syndrome3 tests
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II1 test
  • Cryptosporidiosis-chronic cholangitis-liver disease syndrome2 tests
  • Cutis laxa, X-linked1 test
  • Cyclical neutropenia1 test
  • Cystic fibrosis2 tests
  • Cystinuria2 tests
  • D-2-hydroxyglutaric aciduria1 test
  • D-2-hydroxyglutaric aciduria 11 test
  • D-2-hydroxyglutaric aciduria 21 test
  • Danon disease3 tests
  • Deafness-lymphedema-leukemia syndrome3 tests
  • Deficiency of butyryl-CoA dehydrogenase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase3 tests
  • Deficiency of malonyl-CoA decarboxylase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Dehydrated hereditary stomatocytosis 21 test
  • Delayed puberty1 test
  • delta Thalassemia3 tests
  • Dent disease2 tests
  • Dent disease type 21 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Developmental and epileptic encephalopathy, 11 test
  • Developmental and epileptic encephalopathy, 111 test
  • Developmental and epileptic encephalopathy, 21 test
  • Developmental and epileptic encephalopathy, 31 test
  • Developmental and epileptic encephalopathy, 41 test
  • Developmental and epileptic encephalopathy, 431 test
  • Developmental and epileptic encephalopathy, 51 test
  • Diamond-Blackfan anemia 12 tests
  • Diffuse interstitial pulmonary fibrosis1 test
  • DiGeorge syndrome1 test
  • Dihydropyrimidine dehydrogenase deficiency2 tests
  • Dilated cardiomyopathy 1A3 tests
  • Dilated cardiomyopathy 1AA2 tests
  • Dilated cardiomyopathy 1BB1 test
  • Dilated cardiomyopathy 1C2 tests
  • Dilated cardiomyopathy 1CC2 tests
  • Dilated cardiomyopathy 1DD2 tests
  • Dilated cardiomyopathy 1E2 tests
  • Dilated cardiomyopathy 1EE2 tests
  • Dilated cardiomyopathy 1FF2 tests
  • Dilated cardiomyopathy 1G3 tests
  • Dilated cardiomyopathy 1I3 tests
  • Dilated cardiomyopathy 1II2 tests
  • Dilated cardiomyopathy 1JJ2 tests
  • Dilated cardiomyopathy 1KK2 tests
  • Dilated cardiomyopathy 1L2 tests
  • Dilated cardiomyopathy 1M2 tests
  • Dilated cardiomyopathy 1NN1 test
  • Dilated cardiomyopathy 1O2 tests
  • Dilated cardiomyopathy 1P2 tests
  • Dilated cardiomyopathy 1R2 tests
  • Dilated cardiomyopathy 1S2 tests
  • Dilated cardiomyopathy 1W2 tests
  • Dilated cardiomyopathy 1Y2 tests
  • Dilated cardiomyopathy 1Z2 tests
  • Disorder of fatty acid metabolism1 test
  • Disorder of fatty acid oxidation and ketogenesis1 test
  • Disorder of ketone body transport1 test
  • Disorder of phenylalanine metabolism1 test
  • Disorder of protein N-glycosylation1 test
  • Disorder of the urea cycle metabolism1 test
  • Disorder of tyrosine metabolism1 test
  • Distal myopathy1 test
  • Distal renal tubular acidosis1 test
  • Distal weakness1 test
  • Dizygotic twins1 test
  • DNA ligase IV deficiency2 tests
  • Dominant beta-thalassemia2 tests
  • Drash syndrome1 test
  • Drug metabolism or response16 tests
  • Duchenne muscular dystrophy1 test
  • Dysfibrinogenemia1 test
  • Dyskeratosis congenita2 tests
  • Dyskeratosis congenita, autosomal dominant 11 test
  • Dyskeratosis congenita, autosomal dominant 21 test
  • Dyskeratosis congenita, autosomal dominant 31 test
  • Dyskeratosis congenita, autosomal dominant, 41 test
  • Dyskeratosis congenita, autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive 31 test
  • Dyskeratosis congenita, autosomal recessive 51 test
  • Dyskeratosis congenita, X-linked2 tests
  • Early infantile epileptic encephalopathy with suppression bursts1 test
  • Ectodermal dysplasia and immunodeficiency 12 tests
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectopia lentis2 tests
  • Ectopia lentis 1, isolated, autosomal dominant1 test
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome2 tests
  • Ehlers-danlos syndrome, arthrochalasia type, 21 test
  • Ehlers-Danlos syndrome, arthrochalasis type1 test
  • Ehlers-Danlos syndrome, cardiac valvular type1 test
  • Ehlers-Danlos syndrome, classic type1 test
  • Ehlers-Danlos syndrome, classic type, 12 tests
  • Ehlers-Danlos syndrome, classic type, 21 test
  • Ehlers-Danlos syndrome, dermatosparaxis type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type1 test
  • Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
  • Ehlers-Danlos syndrome, musculocontractural type1 test
  • Ehlers-Danlos syndrome, spondylocheirodysplastic type1 test
  • Ehlers-Danlos syndrome, type 42 tests
  • Elliptocytosis 12 tests
  • Elliptocytosis 22 tests
  • Elliptocytosis 32 tests
  • Emery-Dreifuss muscular dystrophy1 test
  • Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
  • Encephalopathy with Epilepsy1 test
  • Epidermodysplasia verruciformis, susceptibility to, 41 test
  • Epilepsy1 test
  • Episodic pain syndrome, familial, 21 test
  • Erythrocytosis1 test
  • Erythropoietic protoporphyria1 test
  • Escitalopram response2 tests
  • Fabry disease4 tests
  • Fabry disease, cardiac variant2 tests
  • Factor V deficiency1 test
  • Factor VII deficiency1 test
  • Factor X deficiency1 test
  • Factor XII deficiency disease1 test
  • Factor XIII, A subunit, deficiency of1 test
  • Factor XIII, b subunit, deficiency of1 test
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial aortopathy2 tests
  • Familial atrial myxoma1 test
  • Familial cold autoinflammatory syndrome2 tests
  • Familial cold autoinflammatory syndrome 11 test
  • Familial cold autoinflammatory syndrome 21 test
  • Familial cold autoinflammatory syndrome 33 tests
  • Familial dysautonomia1 test
  • Familial episodic pain syndrome with predominantly lower limb involvement1 test
  • Familial episodic pain syndrome with predominantly upper body involvement1 test
  • Familial erythrocytosis1 test
  • Familial hemiplegic migraine1 test
  • Familial hemophagocytic lymphohistiocytosis1 test
  • Familial hyperaldosteronism type III1 test
  • Familial hypercholesterolemia1 test
  • Familial hyperreninemic hypoaldosteronism type 21 test
  • Familial hypocalciuric hypercalcemia2 tests
  • Familial hypocalciuric hypercalcemia 11 test
  • Familial hypocalciuric hypercalcemia 21 test
  • Familial hypocalciuric hypercalcemia 31 test
  • Familial hypodysfibrinogenemia1 test
  • Familial hypokalemia-hypomagnesemia1 test
  • Familial idiopathic steroid-resistant nephrotic syndrome1 test
  • Familial intrahepatic cholestasis1 test
  • Familial isolated dilated cardiomyopathy1 test
  • Familial juvenile hyperuricemic nephropathy1 test
  • Familial Mediterranean fever2 tests
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial pancreatic carcinoma1 test
  • Familial prostate carcinoma1 test
  • Familial renal hypouricemia1 test
  • Familial thoracic aortic aneurysm and aortic dissection1 test
  • Familial type 3 hyperlipoproteinemia1 test
  • Familial visceral amyloidosis, Ostertag type3 tests
  • Fanconi anemia1 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Febrile seizures, familial, 111 test
  • Febrile seizures, familial, 3a1 test
  • Febrile seizures, familial, 81 test
  • Fibrous dysplasia of jaw1 test
  • Fluoropyrimidine response2 tests
  • Fluorouracil response2 tests
  • Fluoxetine response2 tests
  • Fluvoxamine response2 tests
  • Focal epilepsy1 test
  • Focal segmental glomerulosclerosis1 test
  • Follicular lymphoma1 test
  • Fragile X syndrome1 test
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Friedreich ataxia1 test
  • Friedreich ataxia 11 test
  • Friedreich ataxia with retained reflexes1 test
  • Frontotemporal dementia2 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis1 test
  • Fumarase deficiency1 test
  • Galactosemia2 tests
  • Galactosylceramide beta-galactosidase deficiency5 tests
  • Galloway-Mowat syndrome1 test
  • Gamma-glutamylcysteine synthetase deficiency2 tests
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
  • Gaucher disease3 tests
  • Generalized epilepsy with febrile seizures plus1 test
  • Generalized epilepsy with febrile seizures plus, type 11 test
  • Generalized epilepsy with febrile seizures plus, type 91 test
  • Generalized pustular psoriasis1 test
  • Gilbert syndrome4 tests
  • Gilbert syndrome, susceptibility to2 tests
  • Glibenclamide response1 test
  • Glimepiride response1 test
  • Glipizide response1 test
  • Global developmental delay1 test
  • Glomerulopathy with fibronectin deposits 21 test
  • Glucocorticoid-remediable aldosteronism1 test
  • Glucose-6-phosphate transport defect1 test
  • GLUT1 deficiency syndrome2 tests
  • Glutamate formiminotransferase deficiency1 test
  • Glutaric acidemia IIa1 test
  • Glutaric acidemia IIb1 test
  • Glutaric acidemia IIc1 test
  • Glutaric aciduria, type 13 tests
  • Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
  • Glycogen storage disease1 test
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type IA1 test
  • Glycogen storage disease due to phosphoglycerate kinase 1 deficiency1 test
  • Glycogen storage disease, type I2 tests
  • Glycogen storage disease, type II6 tests
  • Glycogen storage disease, type VII2 tests
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative1 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 21 test
  • Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 31 test
  • Granulomatous disease, chronic, X-linked2 tests
  • Growth hormone insensitivity syndrome with immune dysregulation1 test
  • Haim-Munk syndrome1 test
  • Hearing loss, autosomal dominant 34, with or without inflammation1 test
  • Hematologic disorder1 test
  • Hematologic neoplasm2 tests
  • Heme oxygenase 1 deficiency2 tests
  • Hemolytic anemia2 tests
  • Hemolytic anemia due to adenylate kinase deficiency2 tests
  • Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
  • Hemolytic anemia due to glutathione reductase deficiency1 test
  • Hemolytic anemia due to hexokinase deficiency2 tests
  • Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
  • Hemophilia2 tests
  • Hemophilia B Leyden1 test
  • Hepatitis C virus infection, response to therapy of1 test
  • Hereditary angioedema type 31 test
  • Hereditary antithrombin deficiency1 test
  • Hereditary ATTR amyloidosis3 tests
  • Hereditary breast and/or gynecological cancer syndrome1 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary cancer-predisposing syndrome3 tests
  • Hereditary coproporphyria2 tests
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary elliptocytosis2 tests
  • Hereditary endocrine tumor syndrome1 test
  • Hereditary factor IX deficiency disease2 tests
  • Hereditary factor VIII deficiency disease1 test
  • Hereditary factor X deficiency disease1 test
  • Hereditary factor XI deficiency disease1 test
  • Hereditary gastrointestinal cancer and/or polyposis syndrome1 test
  • Hereditary hearing loss and deafness1 test
  • Hereditary hemorrhagic telangiectasia1 test
  • Hereditary hyperbilirubinemia1 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary leiomyomatosis and renal cell cancer1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary motor and sensory neuropathy1 test
  • Hereditary non-spherocytic hemolytic anemia2 tests
  • Hereditary pancreatitis3 tests
  • Hereditary Paraganglioma-Pheochromacytoma Syndrome1 test
  • Hereditary pulmonary alveolar proteinosis1 test
  • Hereditary sensory and autonomic neuropathy type 61 test
  • Hereditary sensory and autonomic neuropathy type 71 test
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Hereditary sensory neuropathy-deafness-dementia syndrome1 test
  • Hereditary spastic paraplegia1 test
  • Hereditary spherocytosis2 tests
  • Hereditary spherocytosis type 12 tests
  • Hereditary spherocytosis type 22 tests
  • Hereditary spherocytosis type 32 tests
  • Hereditary spherocytosis type 42 tests
  • Hereditary spherocytosis type 52 tests
  • Hereditary stomatocytosis2 tests
  • Hereditary thrombophilia due to congenital protein C deficiency1 test
  • Hereditary thrombophilia due to congenital protein S deficiency1 test
  • Hereditary Wilms tumor1 test
  • Hereditary xanthinuria type 11 test
  • Hermansky-Pudlak syndrome 21 test
  • Heterotopia, periventricular, X-linked dominant2 tests
  • Histiocytic medullary reticulosis2 tests
  • HNSHA due to aldolase A deficiency2 tests
  • Hoyeraal-Hreidarsson syndrome1 test
  • Huntington disease1 test
  • Hyper-IgE 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
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypercalciuria, absorptive, 11 test
  • Hypercholesterolemia, autosomal dominant, 31 test
  • Hypercholesterolemia, autosomal dominant, type B1 test
  • Hypercholesterolemia, familial, 11 test
  • Hypercholesterolemia, familial, 41 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin M syndrome2 tests
  • Hyperkalemic periodic paralysis1 test
  • Hypertrophic cardiomyopathy2 tests
  • Hypertrophic cardiomyopathy 12 tests
  • Hypertrophic cardiomyopathy 102 tests
  • Hypertrophic cardiomyopathy 112 tests
  • Hypertrophic cardiomyopathy 122 tests
  • Hypertrophic cardiomyopathy 132 tests
  • Hypertrophic cardiomyopathy 152 tests
  • Hypertrophic cardiomyopathy 162 tests
  • Hypertrophic cardiomyopathy 182 tests
  • Hypertrophic cardiomyopathy 22 tests
  • Hypertrophic cardiomyopathy 202 tests
  • Hypertrophic cardiomyopathy 32 tests
  • Hypertrophic cardiomyopathy 42 tests
  • Hypertrophic cardiomyopathy 62 tests
  • Hypertrophic cardiomyopathy 72 tests
  • Hypertrophic cardiomyopathy 82 tests
  • Hypertrophic cardiomyopathy 93 tests
  • Hypoalphalipoproteinemia, primary, 11 test
  • Hypokalemic periodic paralysis1 test
  • Hypomagnesemia, seizures, and intellectual disability1 test
  • Hypoparathyroidism1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypophosphatasia1 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 11 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets1 test
  • Hypouricemia, renal, 21 test
  • Hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • Idiopathic Pulmonary Fibrosis1 test
  • IL21-related infantile inflammatory bowel disease2 tests
  • IMAGe syndrome1 test
  • Imerslund-Grasbeck syndrome type 11 test
  • Immunodeficiency 1041 test
  • Immunodeficiency 11b with atopic dermatitis1 test
  • Immunodeficiency 142 tests
  • Immunodeficiency 14b, autosomal recessive1 test
  • Immunodeficiency 15a1 test
  • Immunodeficiency 18, severe combined immunodeficiency variant1 test
  • Immunodeficiency 191 test
  • Immunodeficiency 331 test
  • Immunodeficiency 362 tests
  • Immunodeficiency syndrome with autoimmunity1 test
  • Immunodeficiency, common variable, 12 tests
  • Immunodeficiency, common variable, 101 test
  • Immunodeficiency, common variable, 21 test
  • Immunodeficiency, common variable, 31 test
  • Immunodeficiency, common variable, 41 test
  • Immunodeficiency, common variable, 51 test
  • Immunodeficiency, common variable, 61 test
  • Immunodeficiency, common variable, 71 test
  • Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome1 test
  • Immunoglobulin A deficiency 21 test
  • Inborn errors of immunity4 tests
  • Inborn errors of metabolism1 test
  • Inborn mitochondrial myopathy1 test
  • Incontinentia pigmenti syndrome2 tests
  • Infantile hypophosphatasia1 test
  • Infantile Krabbe disease4 tests
  • Infertility1 test
  • Inflammatory bowel disease1 test
  • Inflammatory bowel disease 252 tests
  • Inflammatory bowel disease 282 tests
  • Inherited renal cancer-predisposing syndrome1 test
  • Intestinal hypomagnesemia 11 test
  • Irinotecan response2 tests
  • Jervell and Lange-Nielsen syndrome1 test
  • Junctional epidermolysis bullosa1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome2 tests
  • Karyomegalic interstitial nephritis1 test
  • Kennedy disease1 test
  • Ketamine response1 test
  • Kidney disease1 test
  • Klinefelter syndrome2 tests
  • L-2-hydroxyglutaric aciduria1 test
  • Landau-Kleffner syndrome1 test
  • Late-infantile/juvenile Krabbe disease1 test
  • Left ventricular noncompaction 11 test
  • Leigh syndrome1 test
  • Leigh syndrome due to mitochondrial complex IV deficiency1 test
  • LEOPARD syndrome 12 tests
  • LEOPARD syndrome 23 tests
  • LEOPARD syndrome 32 tests
  • Lesch-Nyhan syndrome1 test
  • Leukocyte adhesion deficiency2 tests
  • Leukocyte adhesion deficiency 11 test
  • Leukocyte adhesion deficiency 31 test
  • Liddle syndrome 11 test
  • Liddle syndrome 21 test
  • Loeys-Dietz syndrome1 test
  • Loeys-Dietz syndrome 11 test
  • Loeys-Dietz syndrome 21 test
  • Loeys-Dietz syndrome 41 test
  • Long QT syndrome1 test
  • Long QT syndrome 91 test
  • Lowe syndrome2 tests
  • Lymphoblastic leukemia, acute, with lymphomatous features1 test
  • Lymphoproliferative syndrome 11 test
  • Lymphoproliferative syndrome 22 tests
  • Lynch syndrome2 tests
  • Lysosomal storage disease1 test
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Majeed syndrome1 test
  • Male infertility1 test
  • Malignant hematological disorder1 test
  • Malignant lymphoma, large B-cell, diffuse2 tests
  • Mandibuloacral dysplasia with type B lipodystrophy1 test
  • Mantle cell lymphoma1 test
  • Maple syrup urine disease1 test
  • Marfan syndrome2 tests
  • Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections1 test
  • MASS syndrome2 tests
  • McLeod neuroacanthocytosis syndrome1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency1 test
  • Mercaptopurine response1 test
  • Meretoja syndrome1 test
  • Metabolic myopathy1 test
  • Metachondromatosis1 test
  • Metachromatic leukodystrophy1 test
  • Methadone response1 test
  • methadone response - Dosage1 test
  • Methylmalonic acidemia3 tests
  • Methylmalonic aciduria and homocystinuria type cblD1 test
  • Mevalonic aciduria2 tests
  • MHC class I deficiency1 test
  • MHC class II deficiency1 test
  • Migraine1 test
  • Miscarriage1 test
  • Mitochondrial complex I deficiency, mitochondrial type1 test
  • Mitochondrial complex III deficiency1 test
  • Mitochondrial disease4 tests
  • Mitochondrial disorder due to a defect in mitochondrial protein synthesis1 test
  • Mitochondrial encephalomyopathy1 test
  • Mitochondrial encephalopathy1 test
  • Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy1 test
  • Mitochondrial myopathy, isolated1 test
  • Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome1 test
  • Mitochondrial neurogastrointestinal encephalomyopathy1 test
  • Mitochondrial oxidative phosphorylation disorder1 test
  • Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA1 test
  • Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA1 test
  • Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies1 test
  • Monocytopenia with susceptibility to infections3 tests
  • Motor neuron disease1 test
  • Mucolipidosis type II1 test
  • Mucopolysaccharidosis2 tests
  • Mucopolysaccharidosis type 11 test
  • Mucopolysaccharidosis type 61 test
  • Mucopolysaccharidosis, MPS-II1 test
  • Mucopolysaccharidosis, MPS-III-A1 test
  • Mucopolysaccharidosis, MPS-III-B1 test
  • Mucopolysaccharidosis, MPS-III-C1 test
  • Mucopolysaccharidosis, MPS-III-D1 test
  • Mucosa-associated lymphoma1 test
  • Multiple acyl-CoA dehydrogenase deficiency4 tests
  • Multiple endocrine neoplasia, type 21 test
  • Multiple fibrofolliculomas1 test
  • Multiple gastrointestinal atresias1 test
  • Muscular dystrophy1 test
  • Myelodysplastic syndrome2 tests
  • Myeloperoxidase deficiency1 test
  • Myhre syndrome1 test
  • Myofibrillar myopathy1 test
  • Myopathy1 test
  • Myopathy and diabetes mellitus1 test
  • Myopathy with giant abnormal mitochondria1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia1 test
  • Nail-patella syndrome1 test
  • NARP syndrome1 test
  • Naxos disease2 tests
  • Neonatal inflammatory skin and bowel disease1 test
  • Neonatal severe primary hyperparathyroidism2 tests
  • Nephrogenic diabetes insipidus1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephrolithiasis/nephrocalcinosis1 test
  • Nephronophthisis1 test
  • Nephrotic syndrome1 test
  • Netherton syndrome1 test
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures1 test
  • Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1 test
  • Neurohypophyseal diabetes insipidus1 test
  • Neuronal ceroid lipofuscinosis1 test
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 2C1 test
  • Neuronopathy, distal hereditary motor, type 2D1 test
  • Neuronopathy, distal hereditary motor, type 5A1 test
  • Neuronopathy, distal hereditary motor, type 5B1 test
  • Neuronopathy, distal hereditary motor, type 5C1 test
  • Neuronopathy, distal hereditary motor, type 7A1 test
  • Neuronopathy, distal hereditary motor, type 7B1 test
  • Neuropathy, hereditary sensory and autonomic, type 1A1 test
  • Neuropathy, hereditary sensory and autonomic, type 1C1 test
  • Neuropathy, hereditary sensory and autonomic, type 2A1 test
  • Neuropathy, hereditary sensory and autonomic, type 2B1 test
  • NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID1 test
  • Neuropathy, hereditary sensory, type 1D1 test
  • Neuropathy, hereditary sensory, type 2C1 test
  • Neutropenia, severe congenital, 1, autosomal dominant1 test
  • Neutropenia, severe congenital, 2, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome2 tests
  • Nevirapine response1 test
  • Nicotine dependence1 test
  • Niemann-Pick disease, type A4 tests
  • Niemann-Pick disease, type B4 tests
  • Niemann-Pick disease, type C3 tests
  • Nilotinib response2 tests
  • Nodular fasciitis1 test
  • Nonimmune chronic idiopathic neutropenia of adults1 test
  • Nonsteroidal anti-inflammatory drug response1 test
  • Noonan syndrome2 tests
  • Noonan syndrome 12 tests
  • Noonan syndrome 32 tests
  • Noonan syndrome 42 tests
  • Noonan syndrome 53 tests
  • Noonan syndrome 62 tests
  • Noonan syndrome 72 tests
  • Noonan syndrome with multiple lentigines1 test
  • Noonan syndrome-like disorder with loose anagen hair 12 tests
  • Odontohypophosphatasia1 test
  • Ondansetron response1 test
  • Ophthalmoplegic neuromuscular disorder with abnormal mitochondria1 test
  • Orofaciodigital syndrome I1 test
  • Osteopetrosis with renal tubular acidosis1 test
  • Otopalatodigital syndrome spectrum disorder1 test
  • Pancytopenia due to IKZF1 mutations1 test
  • Papillon-Lefèvre syndrome1 test
  • Parkes Weber syndrome1 test
  • Paroxetine response2 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
  • Pazopanib response3 tests
  • Peginterferon alfa-2a response1 test
  • Peginterferon alfa-2b response1 test
  • Pegloticase response1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periodontitis, aggressive 11 test
  • Peripheral neuropathy1 test
  • Peroxisome biogenesis disorder1 test
  • Peutz-Jeghers syndrome1 test
  • Phenylketonuria1 test
  • Phenytoin response2 tests
  • Phenytoin toxicity2 tests
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Pigmented nodular adrenocortical disease, primary, 11 test
  • Pityriasis rubra pilaris1 test
  • Platelet-type bleeding disorder 181 test
  • PMM2-congenital disorder of glycosylation2 tests
  • Poikiloderma with neutropenia2 tests
  • Polycystic kidney disease1 test
  • Polycystic liver disease 4 with or without kidney cysts1 test
  • Polyglucosan body myopathy1 test
  • Polyglucosan body myopathy type 11 test
  • Porokeratosis 3, disseminated superficial actinic type2 tests
  • Porphyria1 test
  • Prader-Willi syndrome1 test
  • Prader-Willi syndrome due to maternal uniparental disomy of chromosome 151 test
  • Premature ovarian failure1 test
  • Premature ovarian failure 11 test
  • Primary CD59 deficiency1 test
  • Primary dilated cardiomyopathy2 tests
  • Primary familial dilated cardiomyopathy2 tests
  • Primary familial hypertrophic cardiomyopathy1 test
  • Primary hyperoxaluria1 test
  • Primary hyperoxaluria type 31 test
  • Primary hyperoxaluria, type I2 tests
  • Primary hyperoxaluria, type II2 tests
  • Primary immunodeficiency syndrome due to p14 deficiency1 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome1 test
  • Progressive familial intrahepatic cholestasis1 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Progressive myoclonic epilepsy1 test
  • Propionic acidemia2 tests
  • Proteasome-associated autoinflammatory syndrome 11 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proton pump inhibitor response1 test
  • Proximal renal tubular acidosis1 test
  • Pseudo-Hurler polydystrophy1 test
  • Pseudohypoaldosteronism type 11 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudoxanthoma elasticum1 test
  • Psoriasis1 test
  • PTEN hamartoma tumor syndrome1 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 11 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 21 test
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 31 test
  • Pure gonadal dysgenesis 46,XY1 test
  • Pure mitochondrial myopathy1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
  • Pyropoikilocytosis, hereditary2 tests
  • Pyruvate kinase deficiency of red cells3 tests
  • Qualitative or quantitative defects of dystrophin1 test
  • Radial aplasia-thrombocytopenia syndrome1 test
  • Rasburicase response1 test
  • RASopathy1 test
  • Renal cysts and diabetes syndrome1 test
  • Renal hypomagnesemia 21 test
  • Renal hypomagnesemia 41 test
  • Renal hypomagnesemia 5 with ocular involvement1 test
  • Renal hypomagnesemia 61 test
  • Renal tubular acidosis with progressive nerve deafness1 test
  • Renal-hepatic-pancreatic dysplasia1 test
  • Reticular dysgenesis1 test
  • Rett syndrome1 test
  • Rett syndrome, congenital variant1 test
  • Revesz syndrome1 test
  • Rh-null, regulator type1 test
  • Rhabdomyolysis1 test
  • Rhizomelic chondrodysplasia punctata1 test
  • Ribavirin response1 test
  • RIDDLE syndrome1 test
  • Rienhoff syndrome1 test
  • Rosuvastatin response1 test
  • Sandhoff disease1 test
  • Schimke immuno-osseous dysplasia1 test
  • Seizures, benign familial infantile, 31 test
  • Selective serotonin reuptake inhibitor response2 tests
  • Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
  • Sertraline response2 tests
  • Severe combined immunodeficiency disease1 test
  • Severe combined immunodeficiency due to CARD11 deficiency1 test
  • Severe combined immunodeficiency due to CORO1A deficiency1 test
  • Severe combined immunodeficiency due to CTPS1 deficiency1 test
  • Severe combined immunodeficiency due to DNA-PKcs deficiency1 test
  • Severe combined immunodeficiency due to IKK2 deficiency1 test
  • Severe combined immunodeficiency due to LCK deficiency1 test
  • Severe combined immunodeficiency, athabascan-type2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency2 tests
  • Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
  • Severe combined immunodeficiency, B cell-negative1 test
  • Severe congenital neutropenia2 tests
  • Sex-linked hereditary disorder3 tests
  • SHORT syndrome2 tests
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman syndrome1 test
  • Silver-Russell syndrome 12 tests
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 71 test
  • Simvastatin response1 test
  • Sitosterolemia1 test
  • Smith-Lemli-Opitz syndrome1 test
  • Solid tumor3 tests
  • Southeast Asian ovalocytosis2 tests
  • Spastic paraplegia1 test
  • Specific granule deficiency1 test
  • Specific granule deficiency 11 test
  • Spinal muscular atrophy3 tests
  • Spinocerebellar ataxia 71 test
  • Spinocerebellar ataxia type 11 test
  • Spinocerebellar ataxia type 21 test
  • Spinocerebellar ataxia type 61 test
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 21 test
  • STAT3-related early-onset multisystem autoimmune disease1 test
  • Statin causing adverse effect in therapeutic use1 test
  • Statin-induced myopathy1 test
  • Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
  • Sterol carrier protein 2 deficiency1 test
  • Stormorken syndrome1 test
  • Surfactant metabolism dysfunction, pulmonary, 41 test
  • Susceptibility to localized juvenile periodontitis1 test
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Syndromic hereditary neuropathy1 test
  • Syndromic intellectual disability1 test
  • Systemic lupus erythematosus, susceptibility to1 test
  • Systemic lupus erythematosus, susceptibility to, 91 test
  • Systemic mast cell disease1 test
  • T-B+ severe combined immunodeficiency due to JAK3 deficiency1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • Tacrolimus response1 test
  • Tafenoquine response1 test
  • Tamoxifen response1 test
  • Tay-Sachs disease1 test
  • TCR-alpha-beta-positive T-cell deficiency1 test
  • Telangiectasia, hereditary hemorrhagic, type 11 test
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Telangiectasia, hereditary hemorrhagic, type 51 test
  • Telomere syndrome1 test
  • Tetraploidy syndrome1 test
  • Thioguanine response1 test
  • Thiopurine metabolic disease1 test
  • Thiopurine methyltransferase deficiency1 test
  • Thiopurine response1 test
  • Thiopurines, poor metabolism of, 21 test
  • Thrombocytopenia, X-linked, intermittent2 tests
  • Thrombomodulin-related bleeding disorder1 test
  • Thrombophilia1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive1 test
  • Thrombotic microangiopathy1 test
  • Thyroid gland carcinoma1 test
  • Timothy syndrome1 test
  • TNF receptor-associated periodic fever syndrome (TRAPS)1 test
  • Tolbutamide response1 test
  • Trichohepatoenteric syndrome1 test
  • Tricyclic antidepressant response2 tests
  • Triosephosphate isomerase deficiency2 tests
  • Triploidy1 test
  • Trisomy1 test
  • Trisomy X syndrome1 test
  • Tropisetron response1 test
  • Tuberous sclerosis 11 test
  • Tuberous sclerosis 21 test
  • Tuberous sclerosis syndrome2 tests
  • Tumoral calcinosis, hyperphosphatemic, familial, 11 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 21 test
  • Tumoral calcinosis, hyperphosphatemic, familial, 31 test
  • Turner syndrome4 tests
  • Twinning, monozygotic1 test
  • Tyrosinemia1 test
  • Tyrosinemia type I1 test
  • Uniparental disomy of maternal origin1 test
  • Uniparental disomy of paternal origin1 test
  • Upshaw-Schulman syndrome1 test
  • Variegate porphyria2 tests
  • Velocardiofacial syndrome1 test
  • Venous thromboembolism, susceptibility to1 test
  • Ventriculomegaly-cystic kidney disease2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency1 test
  • Vitamin D hydroxylation-deficient rickets, type 1B1 test
  • Vitamin D-dependent rickets, type 11 test
  • Von Hippel-Lindau syndrome2 tests
  • von Willebrand disorder1 test
  • Voriconazole response1 test
  • Warfarin response2 tests
  • Warts, hypogammaglobulinemia, infections, and myelokathexis2 tests
  • Weill-Marchesani syndrome1 test
  • Weill-Marchesani syndrome 2, dominant2 tests
  • Wilms tumor 11 test
  • Wilson disease2 tests
  • Wiskott-Aldrich syndrome3 tests
  • Wiskott-Aldrich syndrome 22 tests
  • X-linked agammaglobulinemia3 tests
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked Alport syndrome1 test
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
  • X-linked lymphoproliferative syndrome3 tests
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
  • X-linked severe combined immunodeficiency2 tests
  • X-linked severe congenital neutropenia2 tests
  • Xanthinuria type II1 test
  • Xerocytosis1 test
  • Zellweger spectrum disorders1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Maternal cell contamination study (MCC): Order Code: MATCC
  • Zygosity Testing (Multiple Births): Order Code: MULT
  • Specimen Source Identification: Order Code: SPCI
  • Uniparental Disomy (UPD) Testing: Order Code: UNIPD

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 24D0404292, Expiration date: 2023-02-27
  • CLIA, Number: 24D1040592, Expiration date: 2023-10-03
  • CAP, Number: 24D0404292, Expiration date: 2024-05-15
  • CAP, Number: 24D1040592, Expiration date: 2024-05-15

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.