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GTR Home > Laboratories > Mayo Clinic Laboratories

Mayo Clinic Laboratories

GTR Lab ID: 500068, Last updated:2023-10-30

Personnel

  • Director: William Morice, PhD, MD, Lab Director
    Phone: 1-800-533-1710
  • Cassandra Runke, MS, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 1-800-533-1710
    Email: GCMolgen@mayo.edu
  • 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
  • Elyse Love, 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
  • Samantha Wiley, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Email: wiley.samantha@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 21 test
  • 3-methylglutaconic aciduria type 53 tests
  • 3-methylglutaconic aciduria, type VIIA1 test
  • 3-methylglutaconic aciduria, type VIIB1 test
  • 46,xx gonadal dysgenesis, complete, sry-positive1 test
  • 46,XX testicular disorder of sex development1 test
  • Abacavir hypersensitivity1 test
  • Abetalipoproteinaemia1 test
  • Acid sphingomyelinase deficiency1 test
  • Acrodysostosis with multiple hormone resistance1 test
  • Acromicric dysplasia4 tests
  • Activated PI3K-delta syndrome2 tests
  • Acute febrile neutrophilic dermatosis1 test
  • Acute intermittent porphyria7 tests
  • Acute myeloid leukemia4 tests
  • Adams-Oliver syndrome3 tests
  • Addictive nicotine use1 test
  • Adenine phosphoribosyltransferase deficiency1 test
  • Adrenoleukodystrophy4 tests
  • Adrenomyeloneuropathy2 tests
  • Adult hypophosphatasia1 test
  • Adult Krabbe disease1 test
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy1 test
  • Afibrinogenemia1 test
  • Agammaglobulinemia2 tests
  • Agammaglobulinemia 2, autosomal recessive1 test
  • Agammaglobulinemia 3, autosomal recessive1 test
  • Agammaglobulinemia 4, autosomal recessive1 test
  • Agammaglobulinemia 6, autosomal recessive1 test
  • Agammaglobulinemia 7, autosomal recessive1 test
  • Agammaglobulinemia 8, autosomal dominant1 test
  • Agammaglobulinemia 8b, autosomal recessive1 test
  • Aganglionic megacolon1 test
  • Aicardi Goutieres syndrome1 test
  • Aicardi-Goutieres syndrome 72 tests
  • Alagille syndrome due to a JAG1 point mutation4 tests
  • Alagille syndrome due to a NOTCH2 point mutation4 tests
  • ALG1-congenital disorder of glycosylation1 test
  • Alkaptonuria1 test
  • Allopurinol response1 test
  • Alpha-1-antitrypsin deficiency1 test
  • Alport syndrome2 tests
  • Alstrom syndrome3 tests
  • Alzheimer disease 21 test
  • Ambiguous genitalia1 test
  • Amelogenesis imperfecta type 1G1 test
  • Amyloidogenic transthyretin amyloidosis1 test
  • Amyotrophic lateral sclerosis2 tests
  • Amyotrophic lateral sclerosis type 11 test
  • Amyotrophic neuralgia1 test
  • Anauxetic dysplasia 11 test
  • Andersen Tawil syndrome5 tests
  • Anemia, nonspherocytic hemolytic, due to G6PD deficiency3 tests
  • Aneurysmal bone cyst1 test
  • Angelman syndrome1 test
  • Angelman syndrome due to paternal uniparental disomy of chromosome 151 test
  • Angiokeratoma corporis diffusum14 tests
  • Anomaly of sex chromosome3 tests
  • Antenatal Bartter syndrome1 test
  • Aplastic anemia4 tests
  • Arrhythmogenic cardiomyopathy7 tests
  • Arrhythmogenic cardiomyopathy with wooly hair and keratoderma4 tests
  • Arrhythmogenic right ventricular cardiomyopathy7 tests
  • Arterial tortuosity syndrome3 tests
  • Arylsulfatase A pseudodeficiency1 test
  • Asperger syndrome, susceptibility to1 test
  • Ataxia-telangiectasia syndrome2 tests
  • Atazanavir response2 tests
  • Athabaskan severe combined immunodeficiency2 tests
  • Atomoxetine response1 test
  • Atorvastatin response1 test
  • Atrial fibrillation7 tests
  • Atypical hemolytic-uremic syndrome2 tests
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
  • Autism spectrum disorder2 tests
  • Autoimmune disease1 test
  • Autoimmune disease, multisystem, infantile-onset2 tests
  • Autoimmune disease, multisystem, infantile-onset, 22 tests
  • Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
  • Autoimmune lymphoproliferative syndrome2 tests
  • Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency4 tests
  • Autoimmune lymphoproliferative syndrome type 2A2 tests
  • Autoimmune lymphoproliferative syndrome type 2B1 test
  • Autoimmune lymphoproliferative syndrome, type 1a1 test
  • Autoimmune lymphoproliferative syndrome, type 1b2 tests
  • Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD5 tests
  • Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia1 test
  • Autoimmune polyglandular syndrome type 1, autosomal dominant1 test
  • Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia1 test
  • Autoinflammation with episodic fever and lymphadenopathy2 tests
  • Autoinflammation, immune dysregulation, and eosinophilia2 tests
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation2 tests
  • Autoinflammatory disease, X-linked2 tests
  • Autoinflammatory syndrome1 test
  • Autoinflammatory syndrome, familial, Behcet-like2 tests
  • Autoinflammatory syndrome, familial, Behcet-like 12 tests
  • Autosomal chromosomal disorder5 tests
  • Autosomal dominant distal myopathy1 test
  • 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 42 tests
  • Autosomal recessive familial Mediterranean fever1 test
  • Autosomal recessive polycystic kidney disease1 test
  • Autosomal recessive severe congenital neutropenia due to CSF3R deficiency1 test
  • Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency2 tests
  • Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency1 test
  • Autosomal recessive spinocerebellar ataxia 141 test
  • Autosomal uniparental disomy1 test
  • Azathioprine response1 test
  • Azorean disease1 test
  • B Acute Lymphoblastic Leukemia1 test
  • B-cell immunodeficiency, distal limb anomalies, and urogenital malformations1 test
  • BAP1-related tumor predisposition syndrome1 test
  • Baraitser-Winter syndrome2 tests
  • Bare lymphocyte syndrome type 2, complementation group A1 test
  • Bare lymphocyte syndrome type 2, complementation group E1 test
  • Bare lymphocyte syndrome, type II, complementation group B1 test
  • Bare lymphocyte syndrome, type II, complementation group c1 test
  • Bare Lymphocyte Syndrome, Type II, Complementation Group D1 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 dystrophy5 tests
  • Beckwith-Wiedemann syndrome2 tests
  • Belinostat response2 tests
  • BENTA disease1 test
  • Berardinelli-Seip congenital lipodystrophy1 test
  • Beta-thalassemia and related diseases1 test
  • Bethlem myopathy2 tests
  • Bile acid malabsorption, primary, 11 test
  • Bile acid malabsorption, primary, 21 test
  • Biotinidase deficiency1 test
  • Blepharophimosis - intellectual disability syndrome, Ohdo type2 tests
  • Bone marrow failure syndrome 31 test
  • Branchial arch or oral-acral syndrome1 test
  • Brittle cornea syndrome2 tests
  • Bruck syndrome1 test
  • Brugada syndrome6 tests
  • Bupropion response1 test
  • Burkitt lymphoma1 test
  • Candidiasis, familial, 61 test
  • Candidiasis, familial, 81 test
  • Candidiasis, familial, 91 test
  • Capecitabine response2 tests
  • Capillary malformation-arteriovenous malformation syndrome2 tests
  • CARASIL syndrome1 test
  • Carbamazepine hypersensitivity1 test
  • Carbamazepine response1 test
  • Carcinoid syndrome2 tests
  • Cardiac arrhythmia9 tests
  • Cardiac valvular dysplasia, X-linked3 tests
  • Cardiofaciocutaneous syndrome 15 tests
  • Cardiofaciocutaneous syndrome 25 tests
  • Cardiofaciocutaneous syndrome 35 tests
  • Cardiofaciocutaneous syndrome 45 tests
  • Cardiomyopathy8 tests
  • Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis5 tests
  • Carney complex1 test
  • Carnitine acylcarnitine translocase deficiency1 test
  • Carnitine palmitoyl transferase II deficiency, severe infantile form1 test
  • Carnitine palmitoyltransferase II deficiency4 tests
  • Catechol-o-methyltransferase deficiency1 test
  • Catecholaminergic polymorphic ventricular tachycardia 17 tests
  • Cerebral amyloid angiopathy1 test
  • Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 11 test
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
  • Cerebral cavernous malformation2 tests
  • Cerebroretinal microangiopathy with calcifications and cysts 11 test
  • Cerebroretinal microangiopathy with calcifications and cysts 21 test
  • Char syndrome1 test
  • Charcot-Marie-Tooth disease1 test
  • Charcot-Marie-Tooth disease, type IA1 test
  • CHARGE association2 tests
  • Childhood hypophosphatasia1 test
  • Childhood onset GLUT1 deficiency syndrome 21 test
  • Childhood-onset cerebral X-linked adrenoleukodystrophy1 test
  • Chlorpropamide response1 test
  • Cholestanol storage disease7 tests
  • Cholestasis, infantile, NR1H4 related1 test
  • Cholestasis, progressive familial intrahepatic, 41 test
  • Cholestasis, progressive familial intrahepatic, 51 test
  • Cholesteryl ester storage disease1 test
  • Chondrodysplasia punctata 2 X-linked dominant1 test
  • Chromosome 22q11.2 microduplication syndrome1 test
  • Chronic granulomatous disease1 test
  • Chronic myelomonocytic leukemia1 test
  • Chylomicron retention disease1 test
  • Chylomicronemia syndrome1 test
  • Ch├ędiak-Higashi syndrome2 tests
  • Ciliary dyskinesia1 test
  • Citalopram response2 tests
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency1 test
  • Classic homocystinuria2 tests
  • Clopidogrel response1 test
  • Coats plus syndrome1 test
  • Codeine response1 test
  • Coenzyme Q10 deficiency1 test
  • Coenzyme Q10 deficiency, primary, 11 test
  • Cohen syndrome1 test
  • COL4A1 or COL4A2-related cerebral small vessel disease2 tests
  • Cold-induced sweating syndrome 11 test
  • Cold-induced sweating syndrome 21 test
  • Cole-Carpenter syndrome1 test
  • Colon cancer1 test
  • Colorectal / endometrial cancer2 tests
  • Colorectal cancer3 tests
  • Combined immunodeficiency1 test
  • Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia1 test
  • Combined immunodeficiency due to CD3gamma deficiency3 tests
  • Combined immunodeficiency due to DOCK8 deficiency2 tests
  • Combined immunodeficiency due to GINS1 deficiency1 test
  • Combined immunodeficiency due to LRBA deficiency5 tests
  • Combined immunodeficiency due to MALT1 deficiency1 test
  • Combined immunodeficiency due to ORAI1 deficiency2 tests
  • Combined immunodeficiency due to partial RAG1 deficiency3 tests
  • Combined immunodeficiency due to POLE2 deficiency1 test
  • Combined immunodeficiency due to STIM1 deficiency3 tests
  • Combined immunodeficiency due to STK4 deficiency2 tests
  • Combined immunodeficiency with faciooculoskeletal anomalies1 test
  • Combined immunodeficiency, X-linked1 test
  • Combined molybdoflavoprotein enzyme deficiency1 test
  • Combined oxidative phosphorylation defect type 173 tests
  • Combined oxidative phosphorylation deficiency4 tests
  • Common variable immunodeficiency2 tests
  • Complement 3 glomerulopathy1 test
  • Complete trisomy 13 syndrome3 tests
  • Complete trisomy 21 syndrome3 tests
  • Complex lethal osteochondrodysplasia1 test
  • Complex V deficiency1 test
  • Comprehensive testing for inherited renal disease1 test
  • Congenital adrenal hyperplasia1 test
  • Congenital afibrinogenemia1 test
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
  • Congenital chromosomal disease5 tests
  • Congenital contractural arachnodactyly2 tests
  • Congenital diarrhea1 test
  • Congenital diarrhea 5 with tufting enteropathy1 test
  • Congenital diarrhea 61 test
  • Congenital diarrhea 7 with exudative enteropathy1 test
  • Congenital disorder of glycosylation3 tests
  • Congenital disorder of glycosylation type II1 test
  • Congenital disorder of glycosylation, type ICC4 tests
  • Congenital disorder of glycosylation, type IIw2 tests
  • Congenital dyserythropoietic anemia2 tests
  • Congenital dyserythropoietic anemia type 41 test
  • Congenital dyserythropoietic anemia, type I1 test
  • Congenital dyserythropoietic anemia, type II1 test
  • Congenital generalized lipodystrophy1 test
  • Congenital glucose-galactose malabsorption1 test
  • Congenital heart disease9 tests
  • Congenital lactase deficiency1 test
  • Congenital long QT syndrome8 tests
  • Congenital malabsorptive diarrhea 41 test
  • Congenital microvillous atrophy1 test
  • Congenital muscular dystrophy due to LMNA mutation6 tests
  • Congenital myasthenic syndrome2 tests
  • Congenital neutropenia2 tests
  • Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
  • Congenital prothrombin deficiency1 test
  • Congenital secretory diarrhea, chloride type1 test
  • Congenital secretory sodium diarrhea 81 test
  • Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
  • Congenital short bowel syndrome, X-linked3 tests
  • Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome1 test
  • Congenital sodium diarrhea1 test
  • Conotruncal heart malformations1 test
  • Coronary artery disease, autosomal dominant 22 tests
  • Costello syndrome5 tests
  • Cranioectodermal dysplasia 21 test
  • Crigler-Najjar syndrome2 tests
  • Crigler-Najjar syndrome type 12 tests
  • Crigler-Najjar syndrome, type II1 test
  • Cutaneous porphyria3 tests
  • Cutis laxa3 tests
  • Cystic fibrosis2 tests
  • Cystinuria2 tests
  • D,L-2-hydroxyglutaric aciduria1 test
  • D-2-hydroxyglutaric aciduria2 tests
  • D-2-hydroxyglutaric aciduria 11 test
  • D-2-hydroxyglutaric aciduria 21 test
  • Danon disease4 tests
  • Deafness-lymphedema-leukemia syndrome3 tests
  • Deficiency of alpha-mannosidase1 test
  • Deficiency of isobutyryl-CoA dehydrogenase3 tests
  • Deficiency of mevalonate kinase2 tests
  • Deficiency of ribose-5-phosphate isomerase1 test
  • Deficiency of steroid 11-beta-monooxygenase1 test
  • Deficiency of transaldolase1 test
  • Dehydrated hereditary stomatocytosis 21 test
  • Delayed puberty1 test
  • delta Thalassemia3 tests
  • Dent disease2 tests
  • Dent disease type 21 test
  • Dentatorubral-pallidoluysian atrophy1 test
  • Desmosterolosis1 test
  • Diamond-Blackfan anemia 12 tests
  • Diaphyseal dysplasia2 tests
  • Diarrhea 10, protein-losing enteropathy type1 test
  • Diarrhea 12, with microvillus atrophy1 test
  • Diffuse interstitial pulmonary fibrosis1 test
  • DiGeorge syndrome2 tests
  • Dihydropyrimidine dehydrogenase deficiency2 tests
  • Dilated cardiomyopathy 3B1 test
  • Disorder of fatty acid metabolism3 tests
  • Disorder of fatty acid oxidation and ketogenesis1 test
  • Disorder of galactose metabolism1 test
  • Disorder of ketone body transport1 test
  • Disorder of organic acid metabolism1 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 renal tubular acidosis1 test
  • Distal weakness1 test
  • Dizygotic twins1 test
  • DK1-congenital disorder of glycosylation3 tests
  • DNA ligase IV deficiency1 test
  • DOCK2 deficiency1 test
  • Dominant beta-thalassemia2 tests
  • Drash syndrome1 test
  • Drug metabolism or response16 tests
  • Duchenne and Becker muscular dystrophy1 test
  • Duchenne muscular dystrophy5 tests
  • 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 dominant 61 test
  • Dyskeratosis congenita, autosomal recessive 11 test
  • Dyskeratosis congenita, autosomal recessive 21 test
  • Dyskeratosis congenita, autosomal recessive 31 test
  • Dyskeratosis congenita, autosomal recessive 52 tests
  • Dyskeratosis congenita, autosomal recessive 61 test
  • Dyskeratosis congenita, autosomal recessive 71 test
  • Dyskeratosis congenita, X-linked2 tests
  • Dyssynergia1 test
  • Ectodermal dysplasia1 test
  • Ectodermal dysplasia and immune deficiency2 tests
  • Ectodermal dysplasia and immunodeficiency 11 test
  • Ectodermal dysplasia and immunodeficiency 21 test
  • Ectodermal dysplasia, X-linked1 test
  • Ectopia lentis4 tests
  • Efavirenz response1 test
  • Ehlers-Danlos syndrome4 tests
  • Ehlers-Danlos syndrome due to tenascin-X deficiency2 tests
  • Ehlers-Danlos syndrome, arthrochalasis type3 tests
  • Ehlers-Danlos syndrome, cardiac valvular type3 tests
  • Ehlers-Danlos syndrome, classic type4 tests
  • Ehlers-Danlos syndrome, classic-like, 22 tests
  • Ehlers-Danlos syndrome, dermatosparaxis type2 tests
  • Ehlers-Danlos syndrome, musculocontractural type2 tests
  • Ehlers-Danlos syndrome, type 44 tests
  • Ehlers-Danlos/osteogenesis imperfecta syndrome3 tests
  • Elliptocytosis 12 tests
  • Elliptocytosis 22 tests
  • Elliptocytosis 32 tests
  • Emery-Dreifuss muscular dystrophy7 tests
  • Encephalitis, acute, infection (viral)-induced, susceptibility to, 111 test
  • Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency1 test
  • Encephalopathy, acute, infection-induced1 test
  • Epidermodysplasia verruciformis1 test
  • Epidermodysplasia verruciformis, susceptibility to, 31 test
  • Epidermolysis bullosa dystrophica1 test
  • Epidermolysis bullosa pruriginosa1 test
  • Epilepsy1 test
  • Episodic pain syndrome, familial, 21 test
  • Erythrocytosis1 test
  • Erythropoietic protoporphyria6 tests
  • Escitalopram response2 tests
  • Facioscapulohumeral muscular dystrophy 4, digenic1 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
  • FADD-related immunodeficiency2 tests
  • Familial aortopathy3 tests
  • Familial apolipoprotein C-II deficiency1 test
  • Familial cardiomyopathy8 tests
  • Familial chylomicronemia syndrome1 test
  • Familial cold autoinflammatory syndrome2 tests
  • Familial cold autoinflammatory syndrome 33 tests
  • Familial cold autoinflammatory syndrome 41 test
  • Familial dysautonomia1 test
  • Familial episodic pain syndrome1 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 lymphohistiocytosis2 tests
  • Familial hemophagocytic lymphohistiocytosis 22 tests
  • Familial hemophagocytic lymphohistiocytosis 32 tests
  • Familial hemophagocytic lymphohistiocytosis 42 tests
  • Familial hemophagocytic lymphohistiocytosis 53 tests
  • Familial hyperaldosteronism type III1 test
  • Familial hypercholesterolemia2 tests
  • Familial hyperreninemic hypoaldosteronism type 21 test
  • Familial hypobetalipoproteinemia2 tests
  • 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 cardiomyopathy5 tests
  • Familial juvenile gout2 tests
  • Familial Mediterranean fever1 test
  • Familial Mediterranean fever, autosomal dominant1 test
  • Familial pancreatic carcinoma1 test
  • Familial partial lipodystrophy1 test
  • Familial prostate carcinoma1 test
  • Familial renal hypouricemia1 test
  • Familial thoracic aortic aneurysm and aortic dissection5 tests
  • Familial type 3 hyperlipoproteinemia1 test
  • Fanconi anemia1 test
  • Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young1 test
  • Fatty acyl-CoA reductase 1 deficiency2 tests
  • Fish-eye disease1 test
  • Fluoropyrimidine response2 tests
  • Fluorouracil response2 tests
  • Fluoxetine response2 tests
  • Fluvoxamine response2 tests
  • Focal segmental glomerulosclerosis1 test
  • Follicular lymphoma1 test
  • Fragile X syndrome1 test
  • Fragile X-associated tremor/ataxia syndrome1 test
  • Friedreich ataxia3 tests
  • Friedreich ataxia 11 test
  • Friedreich ataxia with retained reflexes1 test
  • Frontometaphyseal dysplasia3 tests
  • Frontotemporal dementia and/or amyotrophic lateral sclerosis2 tests
  • Fumarase deficiency1 test
  • Galactose intolerance3 tests
  • Galactosylceramide beta-galactosidase deficiency6 tests
  • Galloway-Mowat syndrome1 test
  • Gamma-glutamylcysteine synthetase deficiency2 tests
  • Gastrointestinal defect and immunodeficiency syndrome1 test
  • GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
  • Gaucher disease7 tests
  • Geleophysic dysplasia4 tests
  • Genetic cardiac rhythm disease9 tests
  • Genetic cerebral small vessel disease1 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
  • Glomuvenous malformation1 test
  • Glucocorticoid-remediable aldosteronism1 test
  • Glucose-6-phosphate transport defect2 tests
  • GLUT1 deficiency syndrome1 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 disease7 tests
  • 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 IIIa3 tests
  • Glycogen storage disease IIIb3 tests
  • Glycogen storage disease, type I1 test
  • Glycogen storage disease, type II11 tests
  • Glycogen storage disease, type VII2 tests
  • Gnathodiaphyseal dysplasia1 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-linked1 test
  • Griscelli syndrome type 21 test
  • Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant2 tests
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive2 tests
  • Hashimoto thyroiditis1 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
  • Hepatic methionine adenosyltransferase deficiency1 test
  • Hepatitis B virus, susceptibility to2 tests
  • Hepatitis C virus infection, response to therapy of1 test
  • Hepatoerythropoietic porphyria2 tests
  • Hereditary acrodermatitis enteropathica1 test
  • Hereditary acrokeratotic poikiloderma, Weary type1 test
  • Hereditary angioedema type 31 test
  • Hereditary antithrombin deficiency1 test
  • Hereditary ATTR amyloidosis4 tests
  • Hereditary breast and/or gynecological cancer syndrome1 test
  • Hereditary breast ovarian cancer syndrome1 test
  • Hereditary cancer-predisposing syndrome3 tests
  • Hereditary coproporphyria6 tests
  • Hereditary diffuse gastric adenocarcinoma1 test
  • Hereditary disease5 tests
  • 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 hemochromatosis1 test
  • Hereditary hemorrhagic telangiectasia2 tests
  • Hereditary hyperbilirubinemia1 test
  • Hereditary insensitivity to pain with anhidrosis1 test
  • Hereditary liability to pressure palsies1 test
  • Hereditary lipodystrophy1 test
  • Hereditary motor and sensory neuropathy1 test
  • Hereditary neutrophilia1 test
  • Hereditary non-spherocytic hemolytic anemia2 tests
  • Hereditary pancreatitis2 tests
  • Hereditary Paraganglioma-Pheochromacytoma Syndrome1 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 xanthinuria1 test
  • Hereditary xanthinuria type 11 test
  • Heritable Thoracic Aortic Disease3 tests
  • Hermansky-Pudlak syndrome2 tests
  • Hermansky-Pudlak syndrome 11 test
  • Hermansky-Pudlak syndrome 102 tests
  • Hermansky-Pudlak syndrome 22 tests
  • Hermansky-Pudlak syndrome 31 test
  • Hermansky-Pudlak syndrome 41 test
  • Hermansky-Pudlak syndrome 61 test
  • Hermansky-Pudlak syndrome 91 test
  • Herpes simplex encephalitis1 test
  • HNSHA due to aldolase A deficiency2 tests
  • Holt-Oram syndrome1 test
  • Homocystinuria3 tests
  • Hormone receptor-positive breast cancer2 tests
  • Huntington disease1 test
  • Hutchinson-Gilford syndrome1 test
  • Hyper-IgE recurrent infection syndrome 1, autosomal dominant4 tests
  • Hyper-IgE recurrent infection syndrome 3, autosomal recessive2 tests
  • Hyper-IgE recurrent infection syndrome 4, autosomal recessive1 test
  • Hyper-IgE recurrent infection syndrome 4A, autosomal dominant1 test
  • Hyper-IgE recurrent infection syndrome 5, autosomal recessive1 test
  • Hyper-IgE syndrome1 test
  • Hyper-IgM syndrome type 11 test
  • Hyper-IgM syndrome type 21 test
  • Hypercalcemia, infantile, 11 test
  • Hypercalcemia, infantile, 21 test
  • Hypercalciuria, absorptive, 11 test
  • Hypercoagulability1 test
  • Hyperimmunoglobulin D with periodic fever2 tests
  • Hyperimmunoglobulin M syndrome2 tests
  • Hyperlipidemia due to hepatic triglyceride lipase deficiency1 test
  • Hyperlipidemia, familial combined, LPL related2 tests
  • Hyperlipoproteinemia2 tests
  • Hyperlipoproteinemia, type 1D1 test
  • Hyperlipoproteinemia, type I2 tests
  • Hyperoxaluria1 test
  • Hypertriglyceridemia 11 test
  • Hypertrophic cardiomyopathy6 tests
  • Hyperuricemic nephropathy, familial juvenile type 41 test
  • Hypobetalipoproteinemia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Hypokalemic periodic paralysis1 test
  • Hypomagnesemia, seizures, and intellectual disability1 test
  • Hypoparathyroidism1 test
  • Hypoparathyroidism, deafness, renal disease syndrome1 test
  • Hypophosphatasia2 tests
  • Hypophosphatemic nephrolithiasis/osteoporosis 11 test
  • Hypophosphatemic nephrolithiasis/osteoporosis 21 test
  • Hypophosphatemic rickets1 test
  • Hypouricemia, renal, 21 test
  • Hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
  • Ichthyosis linearis circumflexa1 test
  • Idiopathic hypereosinophilic syndrome1 test
  • IKBKG-related immunodeficiency with or without ectodermal dysplasia2 tests
  • IL21-related infantile inflammatory bowel disease2 tests
  • IMAGe syndrome1 test
  • Imerslund-Grasbeck syndrome type 11 test
  • Immune dysregulation disease with immunodeficiency2 tests
  • Immunodeficiency 1042 tests
  • Immunodeficiency 106, susceptibility to viral infections1 test
  • Immunodeficiency 109 with lymphoproliferation3 tests
  • Immunodeficiency 11b with atopic dermatitis5 tests
  • Immunodeficiency 144 tests
  • Immunodeficiency 14b, autosomal recessive4 tests
  • Immunodeficiency 181 test
  • Immunodeficiency 191 test
  • Immunodeficiency 231 test
  • Immunodeficiency 251 test
  • Immunodeficiency 31B3 tests
  • Immunodeficiency 31C, autosomal dominant1 test
  • Immunodeficiency 331 test
  • Immunodeficiency 351 test
  • Immunodeficiency 363 tests
  • Immunodeficiency 391 test
  • Immunodeficiency 452 tests
  • Immunodeficiency 471 test
  • Immunodeficiency 491 test
  • Immunodeficiency 511 test
  • Immunodeficiency 572 tests
  • Immunodeficiency 602 tests
  • Immunodeficiency 611 test
  • Immunodeficiency 63 with lymphoproliferation and autoimmunity3 tests
  • Immunodeficiency 643 tests
  • Immunodeficiency 65, susceptibility to viral infections1 test
  • Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia3 tests
  • Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia3 tests
  • Immunodeficiency 74, COVID-19-related, X-linked1 test
  • Immunodeficiency 753 tests
  • Immunodeficiency 761 test
  • Immunodeficiency 78 with autoimmunity and developmental delay2 tests
  • Immunodeficiency 811 test
  • Immunodeficiency 83, susceptibility to viral infections1 test
  • Immunodeficiency 87 and autoimmunity4 tests
  • Immunodeficiency 94 with autoinflammation and dysmorphic facies1 test
  • Immunodeficiency 951 test
  • Immunodeficiency 961 test
  • Immunodeficiency 98 with autoinflammation, X-linked1 test
  • Immunodeficiency due to CD25 deficiency2 tests
  • Immunodeficiency, common variable, 12 tests
  • Immunodeficiency, common variable, 101 test
  • Immunodeficiency, common variable, 121 test
  • Immunodeficiency, common variable, 141 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, common variable, due to APRIL deficiency1 test
  • Immunodeficiency, Polyendocrinopathy, and Enteropathy X-Linked Syndrome1 test
  • Immunodeficiency, X-linked, with hyper-IgM1 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 11 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 21 test
  • Immunodeficiency-centromeric instability-facial anomalies syndrome 31 test
  • Immunoglobulin A deficiency 21 test
  • Immunoskeletal dysplasia with neurodevelopmental abnormalities1 test
  • Inborn disorder of cobalamin metabolism and transport1 test
  • Inborn errors of metabolism2 tests
  • Inborn mitochondrial myopathy1 test
  • Incontinentia pigmenti syndrome2 tests
  • Increased HDL cholesterol concentration1 test
  • Infantile hypophosphatasia1 test
  • Infantile Krabbe disease5 tests
  • Infertility1 test
  • Inflammatory bowel disease1 test
  • Inflammatory bowel disease 252 tests
  • Inflammatory bowel disease 282 tests
  • Inflammatory bowel disease, immunodeficiency, and encephalopathy2 tests
  • Inflammatory skin and bowel disease, neonatal, 11 test
  • Inherited renal cancer-predisposing syndrome1 test
  • Inherited rippling muscle disease2 tests
  • Intestinal hypomagnesemia 11 test
  • Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked3 tests
  • Irinotecan response2 tests
  • Jervell and Lange-Nielsen syndrome4 tests
  • Joubert syndrome 101 test
  • Junctional epidermolysis bullosa1 test
  • Juvenile myelomonocytic leukemia1 test
  • Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
  • Kabuki syndrome 11 test
  • Kabuki syndrome 21 test
  • Karyomegalic interstitial nephritis1 test
  • Kearns-Sayre syndrome1 test
  • Kennedy disease1 test
  • Keppen-Lubinsky syndrome1 test
  • Ketamine response1 test
  • Kidney disorder1 test
  • Kindler syndrome1 test
  • Klinefelter syndrome2 tests
  • Kostmann syndrome1 test
  • Kyphoscoliotic Ehlers-Danlos syndrome2 tests
  • L-2-hydroxyglutaric aciduria2 tests
  • Larsen-like syndrome, B3GAT3 type2 tests
  • Late-infantile/juvenile Krabbe disease1 test
  • Lateral meningocele syndrome1 test
  • Lathosterolosis1 test
  • LCAT deficiency1 test
  • Left ventricular noncompaction6 tests
  • Left ventricular noncompaction cardiomyopathy6 tests
  • Legius syndrome1 test
  • Leigh syndrome2 tests
  • Leigh Syndrome (mtDNA mutation)1 test
  • Leigh Syndrome (nuclear DNA mutation)1 test
  • Leigh syndrome due to mitochondrial complex IV deficiency1 test
  • Leigh syndrome due to mitochondrial complex V deficiency1 test
  • Lesch-Nyhan syndrome1 test
  • Leukemia, acute myeloid, susceptibility to1 test
  • Leukocyte adhesion deficiency1 test
  • Liddle syndrome 11 test
  • Liddle syndrome 21 test
  • Limb-girdle muscular dystrophy5 tests
  • Lipase deficiency, combined1 test
  • LIPE-related familial partial lipodystrophy1 test
  • Lipodystrophy1 test
  • Lipogranulomatosis1 test
  • Loeys-Dietz syndrome4 tests
  • Loeys-Dietz syndrome 12 tests
  • Loeys-Dietz syndrome 22 tests
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
  • Long QT syndrome8 tests
  • Lowe syndrome2 tests
  • LRP5-related primary osteoporosis1 test
  • Lymphoblastic leukemia, acute, with lymphomatous features1 test
  • Lymphoma, non-Hodgkin, familial1 test
  • Lymphoproliferative syndrome 13 tests
  • Lymphoproliferative syndrome 24 tests
  • Lynch syndrome2 tests
  • Lynch syndrome 81 test
  • Lysinuric protein intolerance1 test
  • Lysosomal acid lipase deficiency2 tests
  • Lysosomal storage disease3 tests
  • Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
  • Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome1 test
  • Malignant hematological disorder1 test
  • Malignant lymphoma, large B-cell, diffuse2 tests
  • Mandibuloacral dysplasia with type B lipodystrophy2 tests
  • Mantle cell lymphoma1 test
  • Maple syrup urine disease1 test
  • Marfan syndrome4 tests
  • MASS syndrome4 tests
  • McLeod neuroacanthocytosis syndrome1 test
  • Meconium ileus1 test
  • Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
  • Meester-Loeys syndrome2 tests
  • Melanoma1 test
  • Melnick-Needles syndrome3 tests
  • MEND syndrome1 test
  • Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency3 tests
  • Menkes kinky-hair syndrome2 tests
  • Mercaptopurine response1 test
  • Metabolic myopathy1 test
  • Metachondromatosis1 test
  • Metachromatic leukodystrophy2 tests
  • Metaphyseal chondrodysplasia, McKusick type1 test
  • Metaphyseal dysplasia without hypotrichosis1 test
  • Methadone response1 test
  • methadone response - Dosage1 test
  • Methylmalonic acidemia4 tests
  • Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
  • Mevalonic aciduria2 tests
  • Migraine1 test
  • Miscarriage1 test
  • Mitochondrial complex 4 deficiency, nuclear type 111 test
  • Mitochondrial complex I deficiency5 tests
  • Mitochondrial complex I deficiency, mitochondrial type1 test
  • Mitochondrial complex II deficiency, nuclear type 11 test
  • Mitochondrial complex III deficiency1 test
  • Mitochondrial complex V (ATP synthase) deficiency nuclear type 24 tests
  • Mitochondrial disease5 tests
  • Mitochondrial disorder due to a defect in mitochondrial protein synthesis1 test
  • Mitochondrial encephalomyopathy1 test
  • Mitochondrial encephalopathy1 test
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency3 tests
  • 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
  • Mitochondrial trifunctional protein deficiency1 test
  • MOGS-congenital disorder of glycosylation1 test
  • Monocytopenia with susceptibility to infections3 tests
  • Motor neuron disease1 test
  • Moyamoya disease3 tests
  • MPI-congenital disorder of glycosylation1 test
  • Mucolipidosis type II1 test
  • Mucopolysaccharidoses, unclassified types1 test
  • Mucopolysaccharidosis5 tests
  • Mucopolysaccharidosis type 13 tests
  • Mucopolysaccharidosis type 64 tests
  • Mucopolysaccharidosis type 74 tests
  • Mucopolysaccharidosis, MPS-II5 tests
  • Mucopolysaccharidosis, MPS-III-A4 tests
  • Mucopolysaccharidosis, MPS-III-B4 tests
  • Mucopolysaccharidosis, MPS-III-C4 tests
  • Mucopolysaccharidosis, MPS-III-D2 tests
  • Mucopolysaccharidosis, MPS-IV-A4 tests
  • Mucopolysaccharidosis, MPS-IV-B4 tests
  • Mucosa-associated lymphoma1 test
  • Multiple acyl-CoA dehydrogenase deficiency4 tests
  • Multiple cutaneous and mucosal venous malformations2 tests
  • Multiple cutaneous leiomyomas1 test
  • Multiple endocrine neoplasia, type 21 test
  • Multiple fibrofolliculomas1 test
  • Multiple gastrointestinal atresias1 test
  • Multiple self-healing squamous epithelioma2 tests
  • Multiple sulfatase deficiency5 tests
  • Muscular dystrophy1 test
  • Muscular dystrophy-dystroglycanopathy3 tests
  • Myelodysplastic syndrome2 tests
  • MYO5B-related progressive familial intrahepatic cholestasis1 test
  • Myofibrillar myopathy6 tests
  • Myopathy and diabetes mellitus1 test
  • Myopathy with giant abnormal mitochondria1 test
  • Myopathy, lactic acidosis, and sideroblastic anemia1 test
  • Myopathy, tubular aggregate, 13 tests
  • Myopathy, tubular aggregate, 21 test
  • Myosin storage myopathy3 tests
  • Nail-patella syndrome1 test
  • NARP syndrome2 tests
  • Naxos disease5 tests
  • Nemaline myopathy3 tests
  • Neonatal Marfan syndrome4 tests
  • Neonatal severe primary hyperparathyroidism2 tests
  • Nephrogenic diabetes insipidus1 test
  • Nephrogenic syndrome of inappropriate antidiuresis1 test
  • Nephrolithiasis/nephrocalcinosis1 test
  • Nephronophthisis1 test
  • Nephrotic 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
  • Neuromuscular disease1 test
  • Neuronal ceroid lipofuscinosis2 tests
  • Neuronal ceroid lipofuscinosis 12 tests
  • Neuronal ceroid lipofuscinosis 22 tests
  • Neuronopathy, distal hereditary motor, type 2A1 test
  • Neuronopathy, distal hereditary motor, type 2B1 test
  • Neuronopathy, distal hereditary motor, type 2D1 test
  • Neuronopathy, distal hereditary motor, type 5A1 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 1F1 test
  • Neuropathy, hereditary sensory, type 2C1 test
  • Neutropenia, severe congenital, 1, autosomal dominant1 test
  • Neutropenia, severe congenital, 2, autosomal dominant1 test
  • Neutropenia, severe congenital, 8, autosomal dominant1 test
  • Neutropenia, severe congenital, 9, autosomal dominant1 test
  • Neutrophil immunodeficiency syndrome3 tests
  • Nevirapine response1 test
  • Niemann-Pick disease, type A7 tests
  • Niemann-Pick disease, type B7 tests
  • Niemann-Pick disease, type C3 tests
  • Nijmegen breakage syndrome-like disorder1 test
  • Nilotinib response2 tests
  • Nodular fasciitis1 test
  • Non-small cell lung carcinoma1 test
  • Nonimmune chronic idiopathic neutropenia of adults1 test
  • Nonsteroidal anti-inflammatory drug response1 test
  • Nonsyndromic congenital nail disorder 81 test
  • Noonan syndrome6 tests
  • Noonan syndrome and Noonan-related syndrome5 tests
  • Noonan syndrome with multiple lentigines5 tests
  • Noonan syndrome-like disorder with loose anagen hair6 tests
  • Noonan-like syndrome1 test
  • Norum disease1 test
  • Obesity due to prohormone convertase I deficiency1 test
  • Odontohypophosphatasia1 test
  • Oligosaccharidosis1 test
  • Ondansetron response1 test
  • Ophthalmoplegic neuromuscular disorder with abnormal mitochondria1 test
  • Orofaciodigital syndrome I2 tests
  • Osteogenesis imperfecta3 tests
  • Osteogenesis imperfecta type 101 test
  • Osteogenesis imperfecta type 111 test
  • Osteogenesis imperfecta type 121 test
  • Osteogenesis imperfecta type 131 test
  • Osteogenesis imperfecta type 141 test
  • Osteogenesis imperfecta type 151 test
  • Osteogenesis imperfecta type 161 test
  • Osteogenesis imperfecta type 173 tests
  • Osteogenesis imperfecta type 51 test
  • Osteogenesis imperfecta type 61 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 III/IV1 test
  • Osteootohepatoenteric syndrome1 test
  • Osteopetrosis with renal tubular acidosis1 test
  • Otofaciocervical syndrome 22 tests
  • Otopalatodigital Spectrum Disorders3 tests
  • Pancreatic adenocarcinoma1 test
  • Pancytopenia due to IKZF1 mutations2 tests
  • Parkinson disease1 test
  • Paroxetine response2 tests
  • Partial adenosine deaminase deficiency3 tests
  • Partial hypoxanthine-guanine phosphoribosyltransferase deficiency1 test
  • Pazopanib response3 tests
  • Pearson syndrome1 test
  • Peginterferon alfa-2a response1 test
  • Peginterferon alfa-2b response1 test
  • Pegloticase response1 test
  • Pelger-Huet-like anomaly and episodic fever with abdominal pain1 test
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome1 test
  • Periodic hyperkalemic paralysis1 test
  • Peripheral neuropathy1 test
  • Periventricular nodular heterotopia3 tests
  • Peroxisome biogenesis disorder6 tests
  • Peroxisome biogenesis disorder 1A (Zellweger)1 test
  • Peutz-Jeghers syndrome1 test
  • Phenylketonuria1 test
  • Phenytoin response2 tests
  • Phenytoin toxicity2 tests
  • Phosphate transport defect1 test
  • Phosphoenolpyruvate carboxykinase deficiency, mitochondrial1 test
  • Phosphoribosylpyrophosphate synthetase superactivity1 test
  • Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome1 test
  • Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease1 test
  • PLIN1-related familial partial lipodystrophy1 test
  • PMM2-congenital disorder of glycosylation4 tests
  • Poikiloderma with neutropenia2 tests
  • POLR3-related leukodystrophy1 test
  • Polycystic kidney dysplasia1 test
  • Polycystic liver disease 4 with or without kidney cysts1 test
  • Polyendocrinopathy1 test
  • Polyglandular autoimmune syndrome, type 12 tests
  • Porokeratosis1 test
  • Porokeratosis 3, disseminated superficial actinic type1 test
  • Porphobilinogen synthase deficiency2 tests
  • Porphyria3 tests
  • Porphyria cutanea tarda5 tests
  • PPARG-related familial partial lipodystrophy1 test
  • Prader-Willi syndrome1 test
  • Prader-Willi syndrome due to maternal uniparental disomy of chromosome 151 test
  • Predisposition to invasive fungal disease due to CARD9 deficiency1 test
  • Premature ovarian failure1 test
  • Premature ovarian failure 11 test
  • Primary CD59 deficiency1 test
  • Primary dilated cardiomyopathy7 tests
  • Primary familial dilated cardiomyopathy7 tests
  • Primary familial hypertrophic cardiomyopathy6 tests
  • Primary hyperoxaluria2 tests
  • Primary hyperoxaluria type 32 tests
  • Primary hyperoxaluria, type I2 tests
  • Primary hyperoxaluria, type II2 tests
  • Primary immunodeficiency with predisposition to severe viral infection1 test
  • Progeroid and marfanoid aspect-lipodystrophy syndrome4 tests
  • Progressive external ophthalmoplegia1 test
  • Progressive familial intrahepatic cholestasis1 test
  • Progressive familial intrahepatic cholestasis type 31 test
  • Prolidase deficiency1 test
  • Propionic acidemia6 tests
  • Protein-losing enteropathy1 test
  • Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
  • Proton pump inhibitor response1 test
  • Proximal renal tubular acidosis1 test
  • Pseudo-TORCH syndrome 31 test
  • Pseudohypoaldosteronism type 11 test
  • Pseudohypoaldosteronism type 2B1 test
  • Pseudohypoaldosteronism type 2C1 test
  • Pseudohypoaldosteronism type 2D1 test
  • Pseudohypoaldosteronism type 2E1 test
  • Pseudoxanthoma elasticum1 test
  • Psoriasis 13, susceptibility to1 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, 32 tests
  • Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 41 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 51 test
  • Pulmonary fibrosis and/or bone marrow failure, telomere-related, 61 test
  • Pulmonary fibrosis, idiopathic, susceptibility to1 test
  • Pulmonary hypertension, familial primary, 1, with or without HHT1 test
  • Pure gonadal dysgenesis 46,XY1 test
  • Pure mitochondrial myopathy1 test
  • Purine-nucleoside phosphorylase deficiency1 test
  • Pyropoikilocytosis, hereditary2 tests
  • Pyruvate kinase deficiency of red cells3 tests
  • Qualitative or quantitative defects of dystrophin1 test
  • Rasburicase response1 test
  • RASopathy6 tests
  • Recombinase activating gene 2 deficiency2 tests
  • Reduced coagulation factor V activity1 test
  • Reducing body myopathy3 tests
  • Renal carnitine transport defect4 tests
  • 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 dysgenesis2 tests
  • Retinal dystrophy and microvillus inclusion disease1 test
  • Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
  • Retinitis pigmentosa and erythrocytic microcytosis2 tests
  • Revesz syndrome1 test
  • Rh-null, regulator type1 test
  • Rhabdomyolysis1 test
  • Rhizomelic chondrodysplasia punctata3 tests
  • Ribavirin response1 test
  • RIDDLE syndrome1 test
  • Rippling muscle disease2 tests
  • Rosuvastatin response1 test
  • Sandhoff disease1 test
  • Schimke immuno-osseous dysplasia2 tests
  • SCID due to ADA deficiency, delayed onset1 test
  • Selective serotonin reuptake inhibitor response2 tests
  • Sertraline response2 tests
  • Severe combined immunodeficiency disease4 tests
  • Severe combined immunodeficiency due to CARD11 deficiency6 tests
  • Severe combined immunodeficiency due to CARMIL2 deficiency4 tests
  • Severe combined immunodeficiency due to CD70 deficiency4 tests
  • Severe combined immunodeficiency due to CORO1A deficiency3 tests
  • Severe combined immunodeficiency due to CTPS1 deficiency3 tests
  • Severe combined immunodeficiency due to DCLRE1C deficiency1 test
  • Severe combined immunodeficiency due to LAT deficiency1 test
  • Severe combined immunodeficiency with sensitivity to ionizing radiation due to NHEJ1 deficiency1 test
  • 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-positive2 tests
  • Severe combined immunodeficiency, B cell-negative1 test
  • Severe congenital neutropenia3 tests
  • Sex-linked hereditary disorder3 tests
  • Short QT syndrome5 tests
  • SHORT syndrome4 tests
  • Shprintzen-Goldberg syndrome2 tests
  • Shwachman syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Shwachman-Diamond syndrome 21 test
  • Sick sinus syndrome6 tests
  • Silver-Russell syndrome 12 tests
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 71 test
  • Simpson-Golabi-Behmel syndrome type 21 test
  • Simvastatin response1 test
  • Singleton-Merten syndrome 12 tests
  • Sitosterolemia2 tests
  • Smith-Lemli-Opitz syndrome2 tests
  • Sneddon syndrome3 tests
  • Solid tumor3 tests
  • Southeast Asian ovalocytosis2 tests
  • Spastic paraplegia1 test
  • Specific granule deficiency 11 test
  • Specific granule deficiency 21 test
  • Sphingolipid activator protein 1 deficiency1 test
  • Spinal muscular atrophy3 tests
  • Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
  • 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
  • Spondylo-ocular syndrome1 test
  • Spondylodysplastic Ehlers-Danlos syndrome2 tests
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures2 tests
  • Stage IV Non-Small Cell Lung Cancer1 test
  • STAT3-related early-onset multisystem autoimmune disease3 tests
  • Statin causing adverse effect in therapeutic use1 test
  • Statin-induced myopathy1 test
  • Stiff skin syndrome4 tests
  • Stormorken syndrome3 tests
  • Stuve-Wiedemann syndrome 21 test
  • Sucrase-isomaltase deficiency1 test
  • Sudden unexplained death1 test
  • Sulfite oxidase deficiency1 test
  • Supravalvar aortic stenosis1 test
  • Susceptibility to HIV infection1 test
  • Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
  • Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)1 test
  • Syndromic congenital sodium diarrhea1 test
  • Syndromic intellectual disability1 test
  • Syndromic multisystem autoimmune disease due to ITCH deficiency2 tests
  • Systemic lupus erythematosus 171 test
  • Systemic mast cell disease1 test
  • T-cell immunodeficiency, congenital alopecia, and nail dystrophy1 test
  • T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant1 test
  • Tacrolimus response1 test
  • Tafenoquine response1 test
  • Tamoxifen response1 test
  • Tay-Sachs disease1 test
  • Telomere syndrome1 test
  • Terminal osseous dysplasia-pigmentary defects syndrome3 tests
  • Tetralogy of Fallot1 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 12 tests
  • Thrombocytopenia, X-linked, intermittent1 test
  • Thrombomodulin-related bleeding disorder1 test
  • Thrombophilia due to protein C deficiency, autosomal dominant1 test
  • Thrombophilia due to protein C deficiency, autosomal recessive1 test
  • Thrombotic microangiopathy1 test
  • Thyroid dyshormonogenesis 61 test
  • Thyroid gland carcinoma1 test
  • Tibial muscular dystrophy5 tests
  • Tolbutamide response1 test
  • Transient bullous dermolysis of the newborn1 test
  • Transient infantile hypertriglyceridemia and hepatosteatosis1 test
  • Trichohepatoenteric syndrome1 test
  • Trichohepatoenteric syndrome 11 test
  • Trichohepatoenteric syndrome 21 test
  • Tricyclic antidepressant response2 tests
  • Triosephosphate isomerase deficiency2 tests
  • Triploidy1 test
  • Trisomy1 test
  • Trisomy 183 tests
  • 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
  • VACTERL association1 test
  • Varicella, severe recurrent1 test
  • Variegate porphyria6 tests
  • Vasculitis due to ADA2 deficiency3 tests
  • Velocardiofacial syndrome1 test
  • Venous thromboembolism, susceptibility to1 test
  • Ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome6 tests
  • Ventricular fibrillation6 tests
  • Ventriculomegaly-cystic kidney disease2 tests
  • Very long chain acyl-CoA dehydrogenase deficiency6 tests
  • Vitamin B12-responsive methylmalonic acidemia1 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 syndrome3 tests
  • WHIM syndrome 11 test
  • WHIM syndrome 21 test
  • Wiedemann-Steiner syndrome1 test
  • Wilms tumor 11 test
  • Wilson disease2 tests
  • Wiskott-Aldrich syndrome4 tests
  • Wiskott-Aldrich syndrome 23 tests
  • Wolff-Parkinson-White pattern5 tests
  • Wolman disease2 tests
  • X-linked agammaglobulinemia3 tests
  • X-linked agammaglobulinemia with growth hormone deficiency1 test
  • X-linked Alport syndrome1 test
  • X-linked cerebral adrenoleukodystrophy3 tests
  • X-linked distal spinal muscular atrophy type 32 tests
  • X-linked Emery-Dreifuss muscular dystrophy6 tests
  • X-linked erythropoietic protoporphyria5 tests
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia2 tests
  • X-linked intellectual disability with marfanoid habitus2 tests
  • X-linked intellectual disability, van Esch type1 test
  • X-linked lymphoproliferative disease due to SH2D1A deficiency6 tests
  • X-linked lymphoproliferative disease due to XIAP deficiency6 tests
  • X-linked lymphoproliferative syndrome5 tests
  • X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
  • X-linked myopathy with postural muscle atrophy3 tests
  • X-linked osteoporosis with fractures1 test
  • X-linked reticulate pigmentary disorder1 test
  • X-linked severe combined immunodeficiency1 test
  • X-linked severe congenital neutropenia4 tests
  • X-linked spondyloepimetaphyseal dysplasia2 tests
  • Xanthinuria type II1 test
  • Xerocytosis1 test
  • ZAP70-Related Severe Combined Immunodeficiency2 tests
  • Zellweger spectrum disorders3 tests

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: 2025-02-27
  • CLIA, Number: 24D1040592, Expiration date: 2025-10-03
  • CAP, Number: 1808201, Expiration date: 2024-05-15
  • CAP, Number: 7193341, 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.