ARUP Laboratories, Molecular Genetics and Genomics

Personnel

Director: Hunter Best, PhD, Medical Director
Heidi Wiltse, MS, Certified Genetic counselor, CGC, Genetic Counselor

Conditions and tests

998 conditions/phenotypes with 191 tests
Enter text to narrow down the list

3-hydroxy-3-methylglutaryl-CoA synthase deficiency1 test
3-Methylglutaconic aciduria type 21 test
Abacavir hypersensitivity1 test
Abnormal heart morphology1 test
Achondrogenesis type II2 tests
Achondrogenesis, type IA2 tests
Achondrogenesis, type IB2 tests
Achondroplasia4 tests
Acquired hemoglobin H disease1 test
Acquired polycythemia vera1 test
Acromicric dysplasia1 test
Action myoclonus-renal failure syndrome1 test
Acute lymphoid leukemia2 tests
Acute myeloid leukemia2 tests
Acute Recurrent Myoglobinuria1 test
Acyl-CoA dehydrogenase 9 deficiency1 test
Acyl-CoA oxidase deficiency1 test
Adams-Oliver syndrome 51 test
Adenomatous polyposis coli, attenuated1 test
Adenylosuccinate lyase deficiency1 test
Adult hypophosphatasia1 test
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
Agenesis of the corpus callosum with peripheral neuropathy1 test
Aicardi-Goutieres syndrome 21 test
Aicardi-Goutieres syndrome 31 test
Aicardi-Goutieres syndrome 41 test
Aicardi-Goutieres syndrome 51 test
Aldosterone-producing adenoma with seizures and neurological abnormalities1 test
Alexander disease1 test
ALG1-congenital disorder of glycosylation1 test
ALG3-congenital disorder of glycosylation1 test
ALG6-congenital disorder of glycosylation 1C1 test
ALG8 congenital disorder of glycosylation1 test
ALG9 congenital disorder of glycosylation1 test
Allopurinol response1 test
alpha Thalassemia3 tests
Alpha trait thalassemia2 tests
Alpha-1-antitrypsin deficiency1 test
Alpha-methylacyl-CoA racemase deficiency2 tests
Alpha-thalassemia and related diseases2 tests
Alport syndrome1 test
Alprazolam response2 tests
Alstrom syndrome1 test
Alzheimer disease2 tests
Amelocerebrohypohidrotic syndrome1 test
Amyloidosis, hereditary systemic 13 tests
Andersen Tawil syndrome1 test
Anemia, nonspherocytic hemolytic, due to G6PD deficiency3 tests
Aneurysm-osteoarthritis syndrome1 test
Angelman syndrome3 tests
Ankylosing spondylitis1 test
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis2 tests
Aortic aneurysm, familial thoracic 11, susceptibility to1 test
Aortic aneurysm, familial thoracic 41 test
Aortic aneurysm, familial thoracic 61 test
Aortic aneurysm, familial thoracic 71 test
Aortic aneurysm, familial thoracic 81 test
Aortic aneurysm, familial thoracic 91 test
Arginase deficiency1 test
Arginine:glycine amidinotransferase deficiency1 test
Ariboflavinosis1 test
Arrhythmogenic cardiomyopathy with wooly hair and keratoderma1 test
Arrhythmogenic right ventricular dysplasia 101 test
Arrhythmogenic right ventricular dysplasia 111 test
Arrhythmogenic right ventricular dysplasia 121 test
Arrhythmogenic right ventricular dysplasia 21 test
Arrhythmogenic right ventricular dysplasia 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair1 test
Arterial tortuosity syndrome1 test
Ashkenazi Jewish disorders1 test
Asphyxiating thoracic dystrophy 22 tests
Asphyxiating thoracic dystrophy 32 tests
Asphyxiating thoracic dystrophy 42 tests
Ataxia-telangiectasia syndrome6 tests
Ataxia-telangiectasia-like disorder1 test
Atelosteogenesis2 tests
Atrial conduction disease1 test
Atrial fibrillation, familial, 101 test
Atrial fibrillation, familial, 121 test
Atrial fibrillation, familial, 31 test
Atrial fibrillation, familial, 71 test
Atrial fibrillation, familial, 91 test
Atrial septal defect 71 test
Atrioventricular septal defect, partial, with heterotaxy syndrome1 test
Attenuated familial adenomatous polyposis1 test
Autism spectrum disorder2 tests
Autism, susceptibility to, X-linked 31 test
Autoimmune lymphoproliferative syndrome type 41 test
Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD1 test
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation1 test
Autosomal agammaglobulinemia1 test
Autosomal dominant aplasia and myelodysplasia1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures1 test
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures1 test
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome1 test
Autosomal dominant nocturnal frontal lobe epilepsy 11 test
Autosomal dominant nocturnal frontal lobe epilepsy 31 test
Autosomal dominant nocturnal frontal lobe epilepsy 51 test
Autosomal dominant slowed nerve conduction velocity1 test
Autosomal recessive axonal neuropathy with neuromyotonia1 test
Autosomal recessive distal spinal muscular atrophy 11 test
Autosomal recessive limb-girdle muscular dystrophy type 2G1 test
Autosomal recessive limb-girdle muscular dystrophy type 2J1 test
Autosomal recessive limb-girdle muscular dystrophy type 2M1 test
Autosomal recessive nonsyndromic hearing loss 1A2 tests
Autosomal recessive nonsyndromic hearing loss 1B1 test
Autosomal recessive nonsyndromic hearing loss 41 test
Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency1 test
Autosomal recessive spinocerebellar ataxia 71 test
Bannayan-Riley-Ruvalcaba syndrome1 test
BAP1-related tumor predisposition syndrome3 tests
Basal cell carcinoma, susceptibility to, 11 test
Becker muscular dystrophy5 tests
Bent bone dysplasia syndrome 12 tests
beta Thalassemia3 tests
Beta-thalassemia and related diseases2 tests
Bilateral frontoparietal polymicrogyria1 test
Biotin-responsive basal ganglia disease1 test
Biotinidase deficiency2 tests
Birt-Hogg-Dube syndrome3 tests
Blepharophimosis - intellectual disability syndrome, SBBYS type1 test
Blepharophimosis-impaired intellectual development syndrome1 test
Bloom syndrome4 tests
Bone fragility with contractures, arterial rupture, and deafness1 test
Bone marrow failure syndrome 31 test
Bone mineral density quantitative trait locus 181 test
Borjeson-Forssman-Lehmann syndrome1 test
Bosch-Boonstra-Schaaf optic atrophy syndrome1 test
Branched-chain keto acid dehydrogenase kinase deficiency1 test
Breast-ovarian cancer, familial, susceptibility to, 21 test
Breast-ovarian cancer, familial, susceptibility to, 32 tests
Breast-ovarian cancer, familial, susceptibility to, 43 tests
Brown-Vialetto-van Laere syndrome 11 test
Brown-Vialetto-van Laere syndrome 21 test
Bruck syndrome 21 test
Brugada syndrome1 test
Brugada syndrome 11 test
Brugada syndrome 31 test
Bupropion response5 tests
Camptomelic dysplasia2 tests
Canavan Disease, Familial Form1 test
Capecitabine response1 test
Capillary malformation-arteriovenous malformation syndrome3 tests
Carbamazepine hypersensitivity1 test
Carcinoma of colon1 test
Carcinoma of pancreas1 test
Cardiac valvular dysplasia, X-linked1 test
Cardiofaciocutaneous syndrome 12 tests
Cardiofaciocutaneous syndrome 21 test
Cardiofaciocutaneous syndrome 31 test
Cardiofaciocutaneous syndrome 41 test
Cardiomyopathy2 tests
Cardiomyopathy, familial restrictive, 12 tests
Cardiomyopathy, familial restrictive, 32 tests
Carney-Stratakis syndrome1 test
Carnitine acylcarnitine translocase deficiency1 test
Carnitine palmitoyl transferase 1A deficiency1 test
Carnitine palmitoyl transferase II deficiency, myopathic form1 test
Carnitine palmitoyltransferase II deficiency2 tests
Catecholaminergic polymorphic ventricular tachycardia 11 test
Catecholaminergic polymorphic ventricular tachycardia 21 test
Catecholaminergic polymorphic ventricular tachycardia 31 test
CBL-related disorder3 tests
Celiac disease1 test
Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease1 test
Cerebellar atrophy with seizures and variable developmental delay1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Cerebral cavernous malformation2 tests
Cerebral cavernous malformation 11 test
Cerebral cavernous malformation 21 test
Cerebral cavernous malformation 31 test
Cerebral folate transport deficiency1 test
Cerebroretinal microangiopathy with calcifications and cysts 11 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Charcot-Marie-Tooth disease2 tests
Charcot-Marie-Tooth disease dominant intermediate B1 test
Charcot-Marie-Tooth disease type 21 test
Charcot-Marie-Tooth disease type 41 test
Charcot-Marie-Tooth disease, type I2 tests
Charcot-Marie-Tooth disease, type IA2 tests
Charcot-Marie-Tooth Neuropathy X1 test
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency1 test
Childhood hypophosphatasia1 test
Childhood onset GLUT1 deficiency syndrome 21 test
Chondrodysplasia punctata2 tests
Chorea-acanthocytosis1 test
Christianson syndrome1 test
Chromosome 2p16.3 deletion syndrome1 test
Chromosome 2q32-q33 deletion syndrome1 test
Chronic infantile neurological, cutaneous and articular syndrome1 test
Chronic obstructive pulmonary disease1 test
chronic recurrent pancreatitis1 test
Chuvash polycythemia3 tests
Cleidocranial dysostosis2 tests
Clozapine response2 tests
Cole-Carpenter syndrome 11 test
Cole-Carpenter syndrome 21 test
Colorectal cancer3 tests
Colorectal cancer, hereditary nonpolyposis, type 22 tests
Combined immunodeficiency due to LRBA deficiency1 test
Combined malonic and methylmalonic acidemia1 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 11 test
Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 21 test
Combined oxidative phosphorylation defect type 271 test
Combined PSAP deficiency1 test
Common variable immunodeficiency1 test
Congenital amegakaryocytic thrombocytopenia1 test
Congenital bile acid synthesis defect1 test
Congenital contractural arachnodactyly1 test
Congenital contractures of the limbs and face, hypotonia, and developmental delay1 test
Congenital disorder of deglycosylation 11 test
Congenital disorder of glycosylation type 1E1 test
Congenital disorder of glycosylation, type IIr1 test
Congenital hypotonia, epilepsy, developmental delay, and digital anomalies1 test
Congenital malabsorptive diarrhea 41 test
Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome1 test
Congenital myasthenic syndrome 131 test
Congenital myasthenic syndrome 181 test
Congenital neutropenia-myelofibrosis-nephromegaly syndrome1 test
Congenital plasminogen activator inhibitor type 1 deficiency1 test
Congenital sensory neuropathy with selective loss of small myelinated fibers1 test
Congenital vertical talus1 test
Corneal dystrophy, Fuchs endothelial, 31 test
Cortical dysplasia-focal epilepsy syndrome1 test
Costello syndrome3 tests
Cowden syndrome1 test
Cowden syndrome 12 tests
Cranioectodermal dysplasia2 tests
Crigler-Najjar syndrome type 11 test
Crigler-Najjar syndrome, type II2 tests
Curry-Hall syndrome2 tests
Cutis laxa, autosomal recessive, type 1B1 test
Cutis laxa, X-linked1 test
Cyclical neutropenia2 tests
CYP2C19-related poor drug metabolism2 tests
Cystathioninuria1 test
Cystic fibrosis4 tests
Danon disease3 tests
DDX41-related hematologic malignancy predisposition syndrome1 test
Deafness-intellectual disability, Martin-Probst type syndrome1 test
Deafness-lymphedema-leukemia syndrome1 test
Debrisoquine, poor metabolism of3 tests
Debrisoquine, ultrarapid metabolism of3 tests
Deficiency of 3-hydroxyacyl-CoA dehydrogenase1 test
Deficiency of acetyl-CoA acetyltransferase2 tests
Deficiency of bisphosphoglycerate mutase1 test
Deficiency of butyryl-CoA dehydrogenase1 test
Deficiency of cytochrome-b5 reductase2 tests
Deficiency of guanidinoacetate methyltransferase1 test
Deficiency of hydroxymethylglutaryl-CoA lyase1 test
Deficiency of malonyl-CoA decarboxylase2 tests
Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase2 tests
Desmin-related myofibrillar myopathy1 test
Developmental and epileptic encephalopathy 1011 test
Developmental and epileptic encephalopathy 921 test
Developmental and epileptic encephalopathy 941 test
Developmental and epileptic encephalopathy 991 test
Developmental and epileptic encephalopathy, 11 test
Developmental and epileptic encephalopathy, 121 test
Developmental and epileptic encephalopathy, 131 test
Developmental and epileptic encephalopathy, 151 test
Developmental and epileptic encephalopathy, 171 test
Developmental and epileptic encephalopathy, 181 test
Developmental and epileptic encephalopathy, 191 test
Developmental and epileptic encephalopathy, 21 test
Developmental and epileptic encephalopathy, 211 test
Developmental and epileptic encephalopathy, 231 test
Developmental and epileptic encephalopathy, 251 test
Developmental and epileptic encephalopathy, 261 test
Developmental and epileptic encephalopathy, 271 test
Developmental and epileptic encephalopathy, 281 test
Developmental and epileptic encephalopathy, 291 test
Developmental and epileptic encephalopathy, 31 test
Developmental and epileptic encephalopathy, 31A1 test
Developmental and epileptic encephalopathy, 321 test
Developmental and epileptic encephalopathy, 331 test
Developmental and epileptic encephalopathy, 351 test
Developmental and epileptic encephalopathy, 361 test
Developmental and epileptic encephalopathy, 371 test
Developmental and epileptic encephalopathy, 381 test
Developmental and epileptic encephalopathy, 391 test
Developmental and epileptic encephalopathy, 41 test
Developmental and epileptic encephalopathy, 411 test
Developmental and epileptic encephalopathy, 421 test
Developmental and epileptic encephalopathy, 431 test
Developmental and epileptic encephalopathy, 441 test
Developmental and epileptic encephalopathy, 471 test
Developmental and epileptic encephalopathy, 481 test
Developmental and epileptic encephalopathy, 51 test
Developmental and epileptic encephalopathy, 501 test
Developmental and epileptic encephalopathy, 511 test
Developmental and epileptic encephalopathy, 521 test
Developmental and epileptic encephalopathy, 531 test
Developmental and epileptic encephalopathy, 541 test
Developmental and epileptic encephalopathy, 581 test
Developmental and epileptic encephalopathy, 591 test
Developmental and epileptic encephalopathy, 691 test
Developmental and epileptic encephalopathy, 71 test
Developmental and epileptic encephalopathy, 741 test
Developmental and epileptic encephalopathy, 771 test
Developmental and epileptic encephalopathy, 81 test
Developmental and epileptic encephalopathy, 811 test
Developmental and epileptic encephalopathy, 85, with or without midline brain defects1 test
Developmental and epileptic encephalopathy, 91 test
Developmental delay and seizures with or without movement abnormalities1 test
Diabetes mellitus, permanent neonatal 21 test
Diamond-Blackfan anemia1 test
Diastrophic dysplasia2 tests
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome1 test
Dihydropteridine reductase deficiency1 test
Dihydropyrimidine dehydrogenase deficiency1 test
Dilated cardiomyopathy 1A1 test
Dilated cardiomyopathy 1AA1 test
Dilated cardiomyopathy 1BB1 test
Dilated cardiomyopathy 1C1 test
Dilated cardiomyopathy 1CC1 test
Dilated cardiomyopathy 1D2 tests
Dilated cardiomyopathy 1DD1 test
Dilated cardiomyopathy 1EE1 test
Dilated cardiomyopathy 1G1 test
Dilated cardiomyopathy 1I1 test
Dilated cardiomyopathy 1M1 test
Dilated cardiomyopathy 1O1 test
Dilated cardiomyopathy 1P1 test
Dilated cardiomyopathy 1R1 test
Dilated cardiomyopathy 1S1 test
Dilated cardiomyopathy 1T1 test
Dilated cardiomyopathy 1W1 test
Dilated cardiomyopathy 1X2 tests
Dilated cardiomyopathy 1Y2 tests
Dilated cardiomyopathy 1Z2 tests
Dilated cardiomyopathy 2A1 test
Dilated cardiomyopathy 3B1 test
Disorder due cytochrome p450 CYP2C19 variant3 tests
Disorder due cytochrome p450 CYP2C9 variant2 tests
Disorder due cytochrome p450 CYP2D6 variant3 tests
Disorders of Intracellular Cobalamin Metabolism1 test
Distal arthrogryposis1 test
Distal spinal muscular atrophy1 test
Dizygotic twins1 test
DK1-congenital disorder of glycosylation1 test
Doxepin response2 tests
Drug metabolism or response3 tests
DRUG METABOLISM, ALTERED, CYP2C8-RELATED3 tests
Duchenne muscular dystrophy5 tests
DYRK1A-related intellectual disability syndrome1 test
Dyskeratosis congenita, autosomal dominant 11 test
Dyskeratosis congenita, autosomal dominant 61 test
Dyskeratosis congenita, autosomal recessive 11 test
Dyskeratosis congenita, autosomal recessive 31 test
Dyskeratosis congenita, autosomal recessive 51 test
Dyskeratosis congenita, autosomal recessive 61 test
Dyskeratosis congenita, X-linked1 test
Early-onset myopathy with fatal cardiomyopathy1 test
Ectodermal dysplasia and immunodeficiency 21 test
Efavirenz response1 test
Ehlers-Danlos syndrome, classic type, 11 test
Ehlers-Danlos syndrome, kyphoscoliotic type 11 test
Ehlers-Danlos syndrome, type 41 test
Ellis-van Creveld syndrome2 tests
Emery-Dreifuss muscular dystrophy1 test
Emery-Dreifuss muscular dystrophy 2, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 4, autosomal dominant1 test
Emery-Dreifuss muscular dystrophy 7, autosomal dominant1 test
Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 12 tests
Epilepsy, early-onset, vitamin B6-dependent1 test
Epilepsy, familial focal, with variable foci 11 test
Epilepsy, familial focal, with variable foci 21 test
Epilepsy, familial focal, with variable foci 31 test
Epilepsy, familial focal, with variable foci 41 test
Epilepsy, familial temporal lobe, 11 test
Epilepsy, idiopathic generalized, susceptibility to, 101 test
Epilepsy, idiopathic generalized, susceptibility to, 141 test
Epilepsy, idiopathic generalized, susceptibility to, 151 test
Epilepsy, idiopathic generalized, susceptibility to, 161 test
Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders1 test
Epiphyseal dysplasia, multiple, 31 test
Episodic ataxia type 11 test
Erythrocyte Alloimmunization2 tests
Erythrocytosis, familial, 31 test
Erythrocytosis, familial, 41 test
Escitalopram response2 tests
Fabry disease2 tests
Familial adenomatous polyposis 13 tests
Familial adenomatous polyposis 23 tests
Familial amyloid nephropathy with urticaria AND deafness1 test
Familial aplasia of the vermis1 test
Familial atrial fibrillation1 test
Familial atrial myxoma2 tests
Familial cancer of breast7 tests
Familial cold autoinflammatory syndrome1 test
Familial cold autoinflammatory syndrome 31 test
Familial colorectal cancer2 tests
Familial dysautonomia3 tests
Familial encephalopathy with neuroserpin inclusion bodies1 test
Familial hemolytic anemia1 test
Familial hypercholesterolemia1 test
Familial hyperinsulinism1 test
Familial Mediterranean fever1 test
Familial medullary thyroid carcinoma3 tests
Familial meningioma1 test
Familial multiple polyposis syndrome3 tests
Familial Periodic Fever1 test
Familial pulmonary capillary hemangiomatosis1 test
Familial type 3 hyperlipoproteinemia1 test
Fanconi anemia2 tests
Fanconi anemia complementation group C2 tests
Fanconi anemia complementation group J1 test
Fanconi anemia complementation group N1 test
Fanconi anemia complementation group O2 tests
Fanconi anemia complementation group P1 test
Fanconi anemia complementation group Q1 test
Fanconi anemia complementation group T1 test
Fanconi-Bickel syndrome1 test
Fatty liver disease, nonalcoholic, susceptibility to, 21 test
Febrile seizures, familial, 11 test
Fentanyl response1 test
Fetal and neonatal alloimmune thrombocytopenia2 tests
Fetal hemoglobin quantitative trait locus 12 tests
Fibrochondrogenesis 21 test
Fluorouracil response1 test
Fragile X syndrome3 tests
Fragile X-associated tremor/ataxia syndrome2 tests
Frontometaphyseal dysplasia2 tests
Frontometaphyseal dysplasia 11 test
Fructose-biphosphatase deficiency1 test
G6PD deficiency2 tests
Galactosemia3 tests
Galactosylceramide beta-galactosidase deficiency1 test
Gamma-aminobutyric acid transaminase deficiency1 test
Gardner syndrome1 test
GATA binding protein 1 related thrombocytopenia with dyserythropoiesis1 test
Gaucher disease3 tests
Gaucher disease due to saposin C deficiency1 test
Gaucher disease perinatal lethal2 tests
Gaucher disease type I2 tests
Gaucher disease type II2 tests
Gaucher disease type III2 tests
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome2 tests
Geleophysic dysplasia 21 test
Generalized epilepsy with febrile seizures plus, type 101 test
Generalized epilepsy with febrile seizures plus, type 91 test
Genetic cardiac rhythm disease1 test
Geroderma osteodysplastica1 test
Giant axonal neuropathy 11 test
Gilbert syndrome1 test
Glomuvenous malformation1 test
Glucose-6-phosphate transport defect1 test
Glutathione synthetase deficiency without 5-oxoprolinuria2 tests
Glycine encephalopathy1 test
Glycogen storage disease1 test
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA3 tests
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency1 test
Glycogen storage disease due to muscle and heart glycogen synthase deficiency1 test
Glycogen storage disease due to muscle beta-enolase deficiency1 test
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency3 tests
Glycogen storage disease IIIa2 tests
Glycogen storage disease IIIb2 tests
Glycogen storage disease IXa11 test
Glycogen storage disease IXa21 test
Glycogen storage disease IXb1 test
Glycogen storage disease IXc1 test
Glycogen storage disease IXd1 test
Glycogen storage disease type X1 test
Glycogen storage disease XV1 test
Glycogen storage disease, type II3 tests
Glycogen storage disease, type IV1 test
Glycogen storage disease, type V1 test
Glycogen storage disease, type VI1 test
Glycogen storage disease, type VII3 tests
Glycogen storage disorder due to hepatic glycogen synthase deficiency1 test
GM3 synthase deficiency1 test
Gnathodiaphyseal dysplasia1 test
Gorlin syndrome1 test
Greenberg dysplasia2 tests
Hb SS disease1 test
Heinz body anemia1 test
Hemochromatosis type 11 test
Hemoglobin H disease4 tests
Hemoglobin H disease, nondeletional1 test
Hemoglobinopathy1 test
Hemolytic anemia2 tests
Hemolytic anemia due to adenylate kinase deficiency2 tests
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction2 tests
Hemolytic anemia due to glucophosphate isomerase deficiency2 tests
Hemolytic anemia due to hexokinase deficiency2 tests
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency2 tests
Hemolytic disease of fetus OR newborn due to isoimmunization10 tests
Hemophilia1 test
Hennekam lymphangiectasia-lymphedema syndrome 11 test
Hepatic methionine adenosyltransferase deficiency1 test
Hereditary breast ovarian cancer syndrome4 tests
Hereditary cancer-predisposing syndrome3 tests
Hereditary diffuse gastric adenocarcinoma6 tests
Hereditary disease3 tests
Hereditary elliptocytosis2 tests
Hereditary factor VIII deficiency disease4 tests
Hereditary fructosuria1 test
Hereditary hemorrhagic telangiectasia2 tests
Hereditary insensitivity to pain with anhidrosis1 test
Hereditary intrinsic factor deficiency1 test
Hereditary leiomyomatosis and renal cell cancer2 tests
Hereditary liability to pressure palsies2 tests
Hereditary lymphedema type I1 test
Hereditary motor and sensory neuropathy1 test
Hereditary neutrophilia1 test
Hereditary nonpolyposis colon cancer4 tests
Hereditary pheochromocytoma-paraganglioma5 tests
Hereditary retinoblastoma1 test
Hereditary sensory and autonomic neuropathy type 11 test
Hereditary sensory and autonomic neuropathy type 21 test
Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
Hereditary sensory neuropathy-deafness-dementia syndrome1 test
Hereditary spastic paraplegia1 test
Hereditary spastic paraplegia 301 test
Hereditary spastic paraplegia 771 test
Hereditary spherocytosis2 tests
Hereditary von Willebrand disease1 test
HNSHA due to aldolase A deficiency3 tests
Holoprosencephaly 112 tests
Holoprosencephaly 22 tests
Holoprosencephaly 32 tests
Holoprosencephaly 42 tests
Holoprosencephaly 52 tests
Holoprosencephaly 71 test
Holoprosencephaly 92 tests
Holoprosencephaly sequence1 test
Homocystinuria due to methylene tetrahydrofolate reductase deficiency1 test
HSD10 mitochondrial disease2 tests
Huntington disease1 test
Hyper-IgM syndrome type 11 test
Hyper-IgM syndrome type 21 test
Hyper-IgM syndrome type 31 test
Hyper-IgM syndrome type 51 test
Hyperekplexia 11 test
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED2 tests
Hyperimmunoglobulin D with periodic fever1 test
Hyperinsulinemic hypoglycemia, familial, 12 tests
Hyperlipoproteinemia1 test
Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria1 test
Hyperphosphatasia with intellectual disability syndrome 11 test
Hyperphosphatasia with intellectual disability syndrome 21 test
Hypertrichotic osteochondrodysplasia Cantu type1 test
Hypertrophic cardiomyopathy1 test
Hypertrophic cardiomyopathy 12 tests
Hypertrophic cardiomyopathy 102 tests
Hypertrophic cardiomyopathy 112 tests
Hypertrophic cardiomyopathy 122 tests
Hypertrophic cardiomyopathy 132 tests
Hypertrophic cardiomyopathy 141 test
Hypertrophic cardiomyopathy 151 test
Hypertrophic cardiomyopathy 172 tests
Hypertrophic cardiomyopathy 182 tests
Hypertrophic cardiomyopathy 22 tests
Hypertrophic cardiomyopathy 201 test
Hypertrophic cardiomyopathy 251 test
Hypertrophic cardiomyopathy 32 tests
Hypertrophic cardiomyopathy 42 tests
Hypertrophic cardiomyopathy 63 tests
Hypertrophic cardiomyopathy 72 tests
Hypertrophic cardiomyopathy 82 tests
Hypertrophic cardiomyopathy 91 test
Hypochondrogenesis2 tests
Hypochondroplasia2 tests
Hypogonadotropic hypogonadism 2 with or without anosmia2 tests
Hypomagnesemia, seizures, and intellectual disability 21 test
Hypophosphatasia3 tests
Hypophosphatemic rickets, X-linked recessive1 test
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome1 test
Hypotonia, infantile, with psychomotor retardation and characteristic facies 21 test
Hypotrichosis-lymphedema-telangiectasia syndrome1 test
Idiopathic and/or familial pulmonary arterial hypertension1 test
Imerslund-Grasbeck syndrome1 test
Imerslund-Grasbeck syndrome type 21 test
Immunodeficiency 1041 test
Immunodeficiency 141 test
Immunodeficiency, common variable, 11 test
Immunodeficiency, common variable, 101 test
Immunodeficiency, common variable, 21 test
Immunodeficiency, common variable, 31 test
Immunodeficiency, common variable, 51 test
Immunodeficiency, common variable, 71 test
Immunoglobulin A deficiency 21 test
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly1 test
Infantile hypophosphatasia1 test
Intellectual disability2 tests
Intellectual disability, autosomal dominant 11 test
Intellectual disability, autosomal dominant 151 test
Intellectual disability, autosomal dominant 161 test
Intellectual disability, autosomal dominant 201 test
Intellectual disability, autosomal dominant 421 test
Intellectual disability, autosomal dominant 51 test
Intellectual disability, autosomal dominant 561 test
Intellectual disability, autosomal recessive 531 test
Intellectual disability, X-linked 11 test
Intellectual disability, X-linked 1021 test
Intellectual disability, X-linked 491 test
Intellectual disability, X-linked, syndromic, Houge type1 test
Intellectual disability-epilepsy-extrapyramidal syndrome1 test
Irinotecan response1 test
Isolated ectopia lentis1 test
Isolated focal cortical dysplasia type II2 tests
Isovaleric acidemia, type I1 test
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Jeune thoracic dystrophy2 tests
Joubert syndrome 22 tests
Juvenile myelomonocytic leukemia1 test
Juvenile polyposis syndrome3 tests
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome4 tests
KBG syndrome1 test
Ketoacidosis due to monocarboxylate transporter-1 deficiency1 test
Kleefstra syndrome 11 test
Kniest dysplasia2 tests
Koolen-de Vries syndrome1 test
Kostmann syndrome1 test
Lafora disease1 test
Landau-Kleffner syndrome1 test
Larsen syndrome2 tests
Left ventricular noncompaction2 tests
Left ventricular noncompaction 101 test
Left ventricular noncompaction 41 test
Legius syndrome2 tests
Lethal congenital glycogen storage disease of heart1 test
Lethal Kniest-like syndrome2 tests
Li-Fraumeni syndrome13 tests
Lissencephaly due to LIS1 mutation1 test
Lissencephaly type 1 due to doublecortin gene mutation1 test
Loeys-Dietz syndrome2 tests
Loeys-Dietz syndrome 11 test
Loeys-Dietz syndrome 21 test
Loeys-Dietz syndrome 41 test
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency1 test
Long QT syndrome2 tests
Long QT syndrome 11 test
Long QT syndrome 111 test
Long QT syndrome 121 test
Long QT syndrome 161 test
Long QT syndrome 21 test
Long QT syndrome 31 test
Long QT syndrome 51 test
Long QT syndrome 61 test
Lorazepam response2 tests
Lymphatic malformation 41 test
Lymphatic malformation 61 test
Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus1 test
Lynch syndrome3 tests
Lynch syndrome 51 test
Lynch syndrome 83 tests
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss1 test
Macular dystrophy with central cone involvement1 test
Majeed syndrome1 test
Malignant hyperthermia of anesthesia1 test
Maple syrup urine disease type 1B3 tests
Marfan syndrome2 tests
MASS syndrome1 test
Maturity-onset diabetes of the young type 11 test
Maturity-onset diabetes of the young type 101 test
Maturity-onset diabetes of the young type 111 test
Maturity-onset diabetes of the young type 131 test
Maturity-onset diabetes of the young type 141 test
Maturity-onset diabetes of the young type 21 test
Maturity-onset diabetes of the young type 31 test
Maturity-onset diabetes of the young type 41 test
Maturity-onset diabetes of the young type 61 test
Maturity-onset diabetes of the young type 71 test
Maturity-onset diabetes of the young type 81 test
Maturity-onset diabetes of the young type 91 test
Medium chain 3-ketoacyl-Coa thiolase deficiency1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency2 tests
Medulloblastoma1 test
Meester-Loeys syndrome1 test
Megalencephaly-capillary malformation-polymicrogyria syndrome1 test
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness1 test
Melanoma1 test
Melanoma and neural system tumor syndrome2 tests
Melanoma, cutaneous malignant, susceptibility to, 32 tests
Melanoma, cutaneous malignant, susceptibility to, 51 test
Melanoma, cutaneous malignant, susceptibility to, 81 test
Metabolic myopathy due to lactate transporter defect1 test
Metaphyseal chondrodysplasia, McKusick type1 test
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome2 tests
Metatropic dysplasia2 tests
Methadone response1 test
METHEMOGLOBINEMIA, TYPE I2 tests
Methylcobalamin deficiency type cblE1 test
Methylcobalamin deficiency type cblG1 test
Methylmalonic acidemia1 test
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency1 test
Methylmalonic acidemia due to transcobalamin receptor defect1 test
Methylmalonic acidemia with homocystinuria, type cblJ1 test
Methylmalonic aciduria and homocystinuria type cblD1 test
Methylmalonic aciduria and homocystinuria type cblF1 test
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency1 test
Methylmalonic aciduria, cblA type1 test
Methylmalonic aciduria, cblB type1 test
Microcephaly, normal intelligence and immunodeficiency2 tests
Microcephaly, seizures, and developmental delay1 test
Microcephaly-capillary malformation syndrome1 test
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome1 test
Mild hemophilia A1 test
Mismatch repair cancer syndrome 11 test
Mitchell syndrome1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency1 test
Mitochondrial trifunctional protein deficiency1 test
Moderately severe hemophilia A1 test
MOGS-congenital disorder of glycosylation1 test
Monosomy 7 myelodysplasia and leukemia syndrome 11 test
Monosomy 7 myelodysplasia and leukemia syndrome 21 test
Morphine response1 test
Mowat-Wilson syndrome1 test
MPDU1-congenital disorder of glycosylation1 test
MTHFR THERMOLABILE POLYMORPHISM2 tests
Mucolipidosis type IV2 tests
Muir-Torré syndrome1 test
Multiple acyl-CoA dehydrogenase deficiency1 test
Multiple congenital anomalies-hypotonia-seizures syndrome 11 test
Multiple congenital anomalies-hypotonia-seizures syndrome 31 test
Multiple cutaneous and mucosal venous malformations1 test
Multiple endocrine neoplasia type 41 test
Multiple endocrine neoplasia, type 17 tests
Multiple endocrine neoplasia, type 21 test
Muscular dystrophy, congenital, with or without seizures1 test
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 41 test
Myelodysplastic syndrome2 tests
MYH7-related skeletal myopathy1 test
Myocardial infarction, susceptibility to, 11 test
Myoclonic epilepsy of Lafora 21 test
Myoclonic-astatic epilepsy1 test
Myofibrillar myopathy 41 test
Myopathy with abnormal lipid metabolism1 test
Myopathy, myofibrillar, 9, with early respiratory failure1 test
Myotonic dystrophy1 test
NAFLD11 test
Narcolepsy 11 test
Naxos disease1 test
NDE1-related microhydranencephaly1 test
Nemaline myopathy 22 tests
Neonatal diabetes mellitus1 test
Neonatal-onset encephalopathy with rigidity and seizures1 test
Nephronophthisis1 test
Neu-Laxova syndrome 11 test
Neuroblastoma1 test
Neuroblastoma, susceptibility to, 31 test
Neurodegeneration with brain iron accumulation 51 test
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity1 test
Neurodevelopmental disorder with epilepsy and hemochromatosis1 test
Neurodevelopmental disorder with hypotonia, seizures, and absent language1 test
Neurofibromatosis, type 14 tests
Neurofibromatosis, type 22 tests
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 131 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 8 northern epilepsy variant1 test
Neuropathy, hereditary sensory, type 1D1 test
Neutropenia, severe congenital, 1, autosomal dominant1 test
Neutropenia, severe congenital, 2, autosomal dominant1 test
Nevirapine response1 test
Niemann-Pick disease, type A2 tests
Non-syndromic X-linked intellectual disability1 test
Noonan syndrome2 tests
Noonan syndrome 101 test
Noonan syndrome with multiple lentigines1 test
Noonan syndrome-like disorder with loose anagen hair1 test
Optic atrophy1 test
Osteogenesis imperfecta3 tests
Osteogenesis imperfecta type 1, mild1 test
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 171 test
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 IIC1 test
Osteogenesis imperfecta, type III/IV1 test
Osteoglophonic dysplasia2 tests
Osteoporosis with pseudoglioma1 test
Pallister-Hall syndrome1 test
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome1 test
Pancytopenia due to IKZF1 mutations1 test
Pancytopenia-developmental delay syndrome1 test
Paragangliomas 11 test
Paragangliomas 21 test
Paragangliomas 31 test
Paragangliomas 41 test
Paragangliomas 51 test
Parastremmatic dwarfism2 tests
Parkes Weber syndrome2 tests
Patterned macular dystrophy 21 test
PCWH syndrome1 test
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome1 test
Periventricular heterotopia with microcephaly, autosomal recessive1 test
Periventricular nodular heterotopia 71 test
Peroxisome biogenesis disorder1 test
Peroxisome biogenesis disorder 10A (Zellweger)1 test
Peroxisome biogenesis disorder 1A (Zellweger)1 test
Peroxisome biogenesis disorder 5A (Zellweger)1 test
Perrault syndrome1 test
Perry syndrome1 test
Peutz-Jeghers syndrome5 tests
PGM1-congenital disorder of glycosylation1 test
Pheochromocytoma2 tests
Phytanic acid storage disease1 test
Pierpont syndrome1 test
Platyspondylic dysplasia, Torrance type2 tests
Pleuropulmonary blastoma2 tests
PMM2-congenital disorder of glycosylation1 test
Poikiloderma with neutropenia1 test
Polyglucosan body myopathy1 test
Polyglucosan body myopathy type 11 test
Polyhydramnios, megalencephaly, and symptomatic epilepsy1 test
Pontocerebellar hypoplasia type 2A1 test
Prader-Willi syndrome2 tests
Primary ciliary dyskinesia2 tests
Primary dilated cardiomyopathy2 tests
Primary familial hypertrophic cardiomyopathy2 tests
Primary familial polycythemia due to EPO receptor mutation1 test
Primary hyperoxaluria1 test
Primary intraosseous venous malformation1 test
Primary pulmonary hypertension2 tests
Primary pulmonary hypoplasia1 test
Prion disease1 test
Progressive familial heart block, type 1A1 test
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome1 test
Progressive myoclonic epilepsy type 31 test
Progressive myoclonic epilepsy type 71 test
Propionic acidemia1 test
Prostate cancer, hereditary, 91 test
Proteus syndrome2 tests
Proteus-like syndrome1 test
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome2 tests
Pseudohypoaldosteronism type 2D1 test
PTEN hamartoma tumor syndrome9 tests
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia1 test
Pulmonary hypertension, primary, 22 tests
Pulmonary hypertension, primary, 31 test
Pulmonary hypertension, primary, 42 tests
Pulmonary venoocclusive disease1 test
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1 test
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome1 test
Pyridoxal phosphate-responsive seizures1 test
Pyridoxine-dependent epilepsy1 test
Pyropoikilocytosis, hereditary2 tests
Pyruvate dehydrogenase E3 deficiency3 tests
Pyruvate kinase deficiency of red cells2 tests
Qualitative or quantitative defects of dystrophin4 tests
Quetiapine response2 tests
Radioulnar synostosis with amegakaryocytic thrombocytopenia 11 test
RASopathy1 test
Renal carnitine transport defect1 test
Renal cell carcinoma2 tests
Retinal dystrophy with leukodystrophy1 test
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations1 test
Retinitis pigmentosa with or without situs inversus1 test
Retinoblastoma3 tests
Rett syndrome, congenital variant1 test
RFT1-congenital disorder of glycosylation1 test
Rhabdoid tumor predisposition syndrome 11 test
Rhizomelic chondrodysplasia punctata3 tests
Rhizomelic chondrodysplasia punctata type 11 test
Rhizomelic chondrodysplasia punctata type 21 test
Rhizomelic chondrodysplasia punctata type 31 test
Rhizomelic chondrodysplasia punctata type 51 test
Risperidone response2 tests
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome1 test
Rotor syndrome2 tests
Russell-Silver syndrome1 test
Schinzel-Giedion syndrome1 test
Schizophrenia1 test
Schneckenbecken dysplasia2 tests
Schuurs-Hoeijmakers syndrome1 test
Schwartz-Jampel syndrome2 tests
Seizures, benign familial infantile, 21 test
Seizures, benign familial infantile, 31 test
Seizures, benign familial neonatal, 21 test
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency1 test
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive1 test
Severe hemophilia A1 test
Sex-linked hereditary disorder1 test
Short QT syndrome2 tests
Short QT syndrome type 11 test
Short QT syndrome type 21 test
Short QT syndrome type 31 test
Short stature due to partial GHR deficiency1 test
Short-rib thoracic dysplasia 6 with or without polydactyly2 tests
Shprintzen-Goldberg syndrome2 tests
Sialidosis type 21 test
Sick sinus syndrome 11 test
Sick sinus syndrome 2, autosomal dominant1 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Skeletal dysplasia2 tests
SLC35A2-congenital disorder of glycosylation1 test
Spastic paraplegia-severe developmental delay-epilepsy syndrome1 test
Spermatogenic failure, Y-linked, 21 test
Spinal muscular atrophy4 tests
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome1 test
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy1 test
Spondylocarpotarsal synostosis syndrome2 tests
Spondylocostal dysostosis2 tests
Spondyloepiphyseal dysplasia2 tests
Spondyloepiphyseal dysplasia with metatarsal shortening2 tests
Spondyloperipheral dysplasia2 tests
Spongy degeneration of central nervous system2 tests
Statin-induced myopathy1 test
Steinert myotonic dystrophy syndrome1 test
Sterol carrier protein 2 deficiency1 test
Stevens-Johnson syndrome1 test
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome1 test
Stickler syndrome1 test
Stickler syndrome type 11 test
Stickler syndrome type 21 test
Stickler syndrome, type 41 test
Stickler syndrome, type 51 test
Stiff skin syndrome1 test
Stuve-Wiedemann syndrome2 tests
Succinate-semialdehyde dehydrogenase deficiency1 test
Succinyl-CoA acetoacetate transferase deficiency1 test
SUDDEN INFANT DEATH SYNDROME1 test
Sulfite oxidase deficiency1 test
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1 test
Syndromic X-linked intellectual disability 941 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Syndromic X-linked intellectual disability Snyder type1 test
Tay-Sachs disease4 tests
Telangiectasia, hereditary hemorrhagic, type 11 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Telangiectasia, hereditary hemorrhagic, type 52 tests
Temple-Baraitser syndrome1 test
Temtamy syndrome1 test
Terminal osseous dysplasia-pigmentary defects syndrome2 tests
Thanatophoric dysplasia type 12 tests
Thanatophoric dysplasia, type 22 tests
Thiopurine response3 tests
Thrombocytopenia 11 test
Thrombocytopenia 21 test
Thrombophilia3 tests
Thrombophilia due to activated protein C resistance1 test
Thrombophilia due to factor V Leiden2 tests
Thrombophilia due to thrombin defect2 tests
Thrombophilia, familial, due to decreased release of tissue plasminogen activator1 test
Timothy syndrome1 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Transcobalamin II deficiency1 test
Transcription level of plasminogen activator inhibitor 11 test
Triosephosphate isomerase deficiency2 tests
Tuberous sclerosis 15 tests
Tuberous sclerosis 25 tests
Tuberous sclerosis syndrome3 tests
Tumor predisposition syndrome 21 test
Tumor predisposition syndrome 32 tests
Twinning, monozygotic1 test
Type II Collagenopathies2 tests
Unverricht-Lundborg syndrome1 test
Usher syndrome type 1F2 tests
Usher syndrome type 32 tests
Van Maldergem syndrome 21 test
Very long chain acyl-CoA dehydrogenase deficiency2 tests
Visceral heterotaxy1 test
Vitamin D-dependent rickets, type 1A1 test
Von Hippel-Lindau syndrome3 tests
Wagner syndrome1 test
Warfarin response1 test
Weill-Marchesani syndrome 2, dominant1 test
WHIM syndrome 11 test
Wilson disease1 test
Wolff-Parkinson-White pattern2 tests
X-linked agammaglobulinemia1 test
X-linked distal spinal muscular atrophy type 31 test
X-linked Emery-Dreifuss muscular dystrophy1 test
X-linked erythropoietic protoporphyria1 test
X-linked intellectual disability Cabezas type1 test
X-linked intellectual disability-cerebellar hypoplasia syndrome1 test
X-linked lymphoproliferative disease due to SH2D1A deficiency1 test
X-linked lymphoproliferative disease due to XIAP deficiency1 test
Xerocytosis2 tests
Zellweger spectrum disorders1 test

List of services

Clinical Testing/Confirmation of Mutations Identified Previously, comments
Contact ARUP for familial targeted sequencing.
Genetic counseling, comments
ARUP genetic counselors can answer questions from healthcare providers
Maternal cell contamination study (MCC), comments
A maternal specimen is recommended for proper fetal test interpretation. Contact an ARUP genetic counselor to coordinate.
X-Chromosome Inactivation Studies: Order Code: 2006352

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: 46D0523979, Expiration date: 2025-02-08
AABB, Number: NA, Expiration date: 2025-12-31
CAP, Number: 4096301, Expiration date: 2025-11-08
ISO15189, Number: NA, Expiration date: 2025-08-15

Licenses

CA - California Department of Public Health CDPH, Number: CDS00800007, Expiration date: 2024-12-31
MD - Maryland Department of Health and Mental Hygiene DHMH, Number: 516, Effective date: 2018-07-01 Non-expiring
NY - New York State Department of Health NYSDOH, Number: 4196, Expiration date: 2025-06-30
OH - Ohio Department of Health ODH, Number: C10046, Expiration date: 2025-07-09
PA - Pennsylvania Department of Health PADOH, Number: 21613A, Expiration date: 2024-08-15
RI - State of Rhode Island Department of Health RIDOH, Number: LCO00429, Expiration date: 2024-12-30
UT - Utah Department of Health UDOH, Number: 262529-1714, Expiration date: 2025-09-30
UT - Utah Department of Health UDOH, Number: 262529-8915, Expiration date: 2025-09-30
WV - West Virginia Department of Health and Human Resources DHHR, Number: HIV-RL-50, Expiration date: 2024-12-31

Participation in external programs

Standardization programs

Locus-specific Databases
Mutation-specific Databases

Data exchange Programs

Locus-specific Databases
Mutation-specific Databases

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.