Mayo Clinic Laboratories

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
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

1288 conditions/phenotypes with 363 tests
Enter text to narrow down the list

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 dermatosis2 tests
Acute intermittent porphyria7 tests
Acute myeloid leukemia4 tests
Adams-Oliver syndrome3 tests
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 syndrome2 tests
Aicardi Goutieres syndrome 1, autosomal dominant1 test
Aicardi-Goutieres syndrome 11 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aicardi-Goutieres syndrome 61 test
Aicardi-Goutieres syndrome 73 tests
Aicardi-Goutieres syndrome 81 test
Aicardi-Goutieres syndrome 91 test
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
ALPI-related inflammatory bowel disease1 test
Alport syndrome2 tests
Alstrom syndrome3 tests
Alzheimer disease 21 test
Ambiguous genitalia1 test
Amelogenesis imperfecta type 1G1 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
Anomaly of sex chromosome3 tests
Antenatal Bartter syndrome1 test
Aplastic anemia4 tests
Arginine:glycine amidinotransferase deficiency3 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-pancytopenia syndrome1 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, 23 tests
Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome1 test
Autoimmune interstitial lung disease-arthritis syndrome1 test
Autoimmune lymphoproliferative syndrome3 tests
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency5 tests
Autoimmune lymphoproliferative syndrome type 11 test
Autoimmune lymphoproliferative syndrome type 1, autosomal recessive1 test
Autoimmune lymphoproliferative syndrome type 2A3 tests
Autoimmune lymphoproliferative syndrome type 2B2 tests
Autoimmune lymphoproliferative syndrome, type 1a1 test
Autoimmune lymphoproliferative syndrome, type 1b2 tests
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD6 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 dysplasia2 tests
Autoinflammation with arthritis and dyskeratosis1 test
Autoinflammation with episodic fever and lymphadenopathy3 tests
Autoinflammation, immune dysregulation, and eosinophilia3 tests
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation3 tests
Autoinflammatory disease, systemic, with vasculitis1 test
Autoinflammatory disease, X-linked2 tests
Autoinflammatory syndrome2 tests
Autoinflammatory syndrome, familial, Behcet-like3 tests
Autoinflammatory syndrome, familial, Behcet-like 13 tests
Autoinflammatory-pancytopenia syndrome due to DNASE2 deficiency1 test
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 fever2 tests
Autosomal recessive inherited pseudoxanthoma elasticum1 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 systemic lupus erythematosus type 161 test
Autosomal uniparental disomy1 test
Azathioprine response1 test
Azorean disease1 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 disease2 tests
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
Birt-Hogg-Dube syndrome1 test
Blau syndrome1 test
Blepharophimosis - intellectual disability syndrome, Ohdo type2 tests
Bone marrow failure syndrome 31 test
Branchial arch or oral-acral syndrome1 test
Breast cancer, susceptibility to1 test
Brittle cornea syndrome2 tests
Bruck syndrome1 test
Brugada syndrome6 tests
Bupropion response1 test
Burkitt lymphoma1 test
C1Q deficiency1 test
C1Q deficiency 21 test
C1Q deficiency 31 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
Chilblain lupus 11 test
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 infantile neurological, cutaneous and articular syndrome1 test
Chronic myelomonocytic leukemia1 test
Chylomicron retention disease1 test
Chylomicronemia syndrome1 test
Chédiak-Higashi syndrome3 tests
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 deficiency3 tests
Combined immunodeficiency due to GINS1 deficiency1 test
Combined immunodeficiency due to LRBA deficiency6 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 deficiency4 tests
Combined immunodeficiency due to STK4 deficiency2 tests
Combined immunodeficiency with faciooculoskeletal anomalies1 test
Combined immunodeficiency, X-linked2 tests
Combined molybdoflavoprotein enzyme deficiency1 test
Combined oxidative phosphorylation defect type 173 tests
Combined oxidative phosphorylation deficiency4 tests
Common variable immunodeficiency3 tests
Complement 3 glomerulopathy1 test
Complement component 2 deficiency1 test
Complement component C1r/C1s deficiency1 test
Complement component C1s deficiency1 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 syndrome2 tests
Congenital sodium diarrhea1 test
Conotruncal heart malformations1 test
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome1 test
Coronary artery disease, autosomal dominant 22 tests
Costello syndrome5 tests
Cranioectodermal dysplasia 21 test
Creatine transporter deficiency1 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 guanidinoacetate methyltransferase3 tests
Deficiency of isobutyryl-CoA dehydrogenase3 tests
Deficiency of mevalonate kinase3 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 deficiency3 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 deficiency2 tests
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, arthrochalasia 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, periodontal type 21 test
Ehlers-Danlos syndrome, periodontitis type1 test
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
Emery-Dreifuss muscular dystrophy 1, X-linked3 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
Fabry disease14 tests
Facioscapulohumeral muscular dystrophy 4, digenic1 test
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
FADD-related immunodeficiency3 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial amyloid neuropathy1 test
Familial aortopathy3 tests
Familial apolipoprotein C-II deficiency1 test
Familial cardiomyopathy8 tests
Familial chilblain lupus1 test
Familial chylomicronemia syndrome1 test
Familial cold autoinflammatory syndrome3 tests
Familial cold autoinflammatory syndrome 11 test
Familial cold autoinflammatory syndrome 21 test
Familial cold autoinflammatory syndrome 34 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 lymphohistiocytosis3 tests
Familial hemophagocytic lymphohistiocytosis 23 tests
Familial hemophagocytic lymphohistiocytosis 33 tests
Familial hemophagocytic lymphohistiocytosis 43 tests
Familial hemophagocytic lymphohistiocytosis 54 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 fever2 tests
Familial Mediterranean fever, autosomal dominant2 tests
Familial pancreatic carcinoma1 test
Familial partial lipodystrophy1 test
Familial Periodic Fever1 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
Farber lipogranulomatosis1 test
Fatty acyl-CoA reductase 1 deficiency2 tests
Fibrous dysplasia of jaw1 test
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
Fucosidosis1 test
Fumarase deficiency1 test
Galactosemia4 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
GATA2 deficiency with susceptibility to MDS/AML1 test
Gaucher disease7 tests
Geleophysic dysplasia4 tests
Generalized pustular psoriasis1 test
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 defect3 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 disease8 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 I2 tests
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 22 tests
Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant2 tests
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive2 tests
Hashimoto thyroiditis1 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
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 leiomyomatosis and renal cell cancer1 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 von Willebrand disease1 test
Hereditary Wilms tumor1 test
Hereditary xanthinuria1 test
Hereditary xanthinuria type 11 test
Heritable Thoracic Aortic Disease3 tests
Hermansky-Pudlak syndrome3 tests
Hermansky-Pudlak syndrome 11 test
Hermansky-Pudlak syndrome 103 tests
Hermansky-Pudlak syndrome 23 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 dominant5 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 syndrome2 tests
Hyper-IgM syndrome type 12 tests
Hyper-IgM syndrome type 21 test
Hypercalcemia, infantile, 11 test
Hypercalcemia, infantile, 21 test
Hypercalciuria, absorptive, 11 test
Hyperimmunoglobulin D with periodic fever3 tests
Hyperimmunoglobulin M syndrome2 tests
Hyperkalemic periodic paralysis1 test
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 dysplasia3 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 115 with autoinflammation1 test
Immunodeficiency 11b with atopic dermatitis6 tests
Immunodeficiency 145 tests
Immunodeficiency 14b, autosomal recessive5 tests
Immunodeficiency 181 test
Immunodeficiency 191 test
Immunodeficiency 231 test
Immunodeficiency 251 test
Immunodeficiency 31B4 tests
Immunodeficiency 31C, autosomal dominant2 tests
Immunodeficiency 331 test
Immunodeficiency 351 test
Immunodeficiency 364 tests
Immunodeficiency 391 test
Immunodeficiency 452 tests
Immunodeficiency 471 test
Immunodeficiency 491 test
Immunodeficiency 511 test
Immunodeficiency 573 tests
Immunodeficiency 602 tests
Immunodeficiency 611 test
Immunodeficiency 63 with lymphoproliferation and autoimmunity4 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-linked2 tests
Immunodeficiency 753 tests
Immunodeficiency 761 test
Immunodeficiency 78 with autoimmunity and developmental delay3 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 deficiency3 tests
Immunodeficiency due to defect in CD3-gamma1 test
Immunodeficiency, common variable, 13 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 bile acid synthesis1 test
Inborn disorder of cobalamin metabolism and transport1 test
Inborn disorder of purine or pyrimidine metabolism2 tests
Inborn errors of metabolism2 tests
Inborn mitochondrial myopathy1 test
Incontinentia pigmenti syndrome3 tests
Increased HDL cholesterol concentration1 test
Infantile hypophosphatasia1 test
Infantile Krabbe disease5 tests
Infantile-onset periodic fever-panniculitis-dermatosis syndrome1 test
Infertility disorder1 test
Inflammatory bowel disease2 tests
Inflammatory bowel disease 253 tests
Inflammatory bowel disease 283 tests
Inflammatory bowel disease, immunodeficiency, and encephalopathy2 tests
Inflammatory skin and bowel disease, neonatal, 12 tests
Inherited renal cancer-predisposing syndrome1 test
Inherited rippling muscle disease2 tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome1 test
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 arthritis due to defect in LACC11 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
Keratitis fugax hereditaria1 test
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma 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
Lazy leukocyte syndrome1 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 syndrome2 tests
Leukemia, acute myeloid, susceptibility to1 test
Leukocyte adhesion deficiency2 tests
Leukocyte adhesion deficiency 11 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 syndrome2 tests
Majeed 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 complete ISG15 deficiency1 test
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency4 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 aciduria3 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 with diabetes1 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
Mitochondrial trifunctional protein deficiency1 test
MOGS-congenital disorder of glycosylation1 test
Monocytopenia with susceptibility to infections3 tests
Monosomy 7 myelodysplasia and leukemia syndrome 11 test
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 endocrine neoplasia, type 21 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 with giant abnormal mitochondria1 test
Myopathy, lactic acidosis, and sideroblastic anemia1 test
Myopathy, tubular aggregate, 14 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
Nicotine dependence1 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 deficiency4 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 syndrome2 tests
Peripheral neuropathy2 tests
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
Pityriasis rubra pilaris1 test
Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease2 tests
PLIN1-related familial partial lipodystrophy1 test
PMM2-congenital disorder of glycosylation4 tests
Poikiloderma with neutropenia2 tests
POLR3-related leukodystrophy1 test
Polycystic kidney disease1 test
Polycystic liver disease 4 with or without kidney cysts1 test
Polyendocrinopathy1 test
Polyglandular autoimmune syndrome, type 12 tests
Polyglucosan body myopathy1 test
Polyglucosan body myopathy 1 with immunodeficiency1 test
Polyglucosan body myopathy 1 without immunodeficiency1 test
Polyglucosan body myopathy type 11 test
Porokeratosis1 test
Porokeratosis 3, disseminated superficial actinic type2 tests
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
Precursor B-cell acute lymphoblastic leukemia1 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 ciliary dyskinesia1 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
Proteasome-associated autoinflammatory syndrome 11 test
Proteasome-associated autoinflammatory syndrome 21 test
Proteasome-associated autoinflammatory syndrome 31 test
PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3, DIGENIC1 test
Proteasome-associated autoinflammatory syndrome 41 test
Proteasome-associated autoinflammatory syndrome 51 test
Protein-losing enteropathy2 tests
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis1 test
Proton pump inhibitor response1 test
Proximal renal tubular acidosis1 test
Pseudo-TORCH syndrome1 test
Pseudo-TORCH syndrome 21 test
Pseudo-TORCH syndrome 32 tests
Pseudohypoaldosteronism type 11 test
Pseudohypoaldosteronism type 2B1 test
Pseudohypoaldosteronism type 2C1 test
Pseudohypoaldosteronism type 2D1 test
Pseudohypoaldosteronism type 2E1 test
Psoriasis 13, susceptibility to1 test
Psoriasis 21 test
PTEN hamartoma tumor syndrome1 test
Pulmonary alveolar proteinosis with hypogammaglobulinemia1 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
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 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
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 manifestations2 tests
Retinitis pigmentosa and erythrocytic microcytosis3 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
Russell-Silver syndrome1 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 deficiency7 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 deficiency3 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 neutropenia4 tests
Sex-linked hereditary disorder3 tests
Short QT syndrome5 tests
SHORT syndrome5 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 11 test
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 13 tests
Singleton-Merten syndrome 21 test
Sinus histiocytosis with massive lymphadenopathy1 test
Sitosterolemia2 tests
Smith-Lemli-Opitz syndrome2 tests
Sneddon syndrome4 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 syndrome2 tests
Spinocerebellar ataxia 491 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
Spondyloenchondrodysplasia with immune dysregulation1 test
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 disease4 tests
Statin causing adverse effect in therapeutic use1 test
Statin-induced myopathy1 test
Sterile multifocal osteomyelitis with periostitis and pustulosis1 test
Stiff skin syndrome4 tests
STING-associated vasculopathy with onset in infancy1 test
Stormorken syndrome4 tests
Stuve-Wiedemann syndrome 21 test
Subcutaneous panniculitis-like T-cell lymphoma1 test
Sucrase-isomaltase deficiency1 test
Sudden unexplained death1 test
Sulfite oxidase deficiency1 test
Supravalvar aortic stenosis1 test
Susceptibility to HIV infection2 tests
Susceptibility to respiratory infections associated with CD8alpha chain mutation1 test
Symmetrical dyschromatosis of extremities1 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 deficiency3 tests
Systemic lupus erythematosus 172 tests
Systemic lupus erythematosus, susceptibility to, 11 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 response1 test
Thiopurine S-methyltransferase deficiency1 test
Thiopurines, poor metabolism of, 21 test
Thrombocytopenia 12 tests
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 dyshormonogenesis 61 test
Thyroid gland carcinoma1 test
Tibial muscular dystrophy5 tests
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Tolbutamide response1 test
Transient bullous dermolysis of the newborn1 test
Transient infantile hypertriglyceridemia and hepatosteatosis1 test
Trichohepatoenteric syndrome2 tests
Trichohepatoenteric syndrome 11 test
Trichohepatoenteric syndrome 22 tests
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 deficiency4 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
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 syndrome5 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 dystrophy3 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 type2 tests
X-linked lymphoproliferative disease due to SH2D1A deficiency7 tests
X-linked lymphoproliferative disease due to XIAP deficiency7 tests
X-linked lymphoproliferative syndrome6 tests
X-linked Mendelian susceptibility to mycobacterial diseases due to CYBB deficiency1 test
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency1 test
X-linked myopathy with postural muscle atrophy3 tests
X-linked osteoporosis with fractures1 test
X-linked reticulate pigmentary disorder2 tests
X-linked severe combined immunodeficiency1 test
X-linked severe congenital neutropenia5 tests
X-linked spondyloepimetaphyseal dysplasia2 tests
Xanthinuria type II1 test
Xerocytosis1 test
ZAP70-Related Severe Combined Immunodeficiency3 tests
Zellweger spectrum disorders4 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: SPECI
Uniparental Disomy (UPD) Testing: Order Code: UNIPD

List of certifications/licenses

Certifications

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., 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.