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

ARUP Laboratories, Molecular Genetics and Genomics

GTR Lab ID: 25969, Last updated:2023-08-22

Personnel

  • Director: Pinar Bayrak-Toydemir, PhD, MD, Medical Director
    Phone: 800-242-2787 ext 3171
    Fax: 801-584-5207
    Email: pinar.bayrak@aruplab.com
  • Director: Hunter Best, PhD, Medical Director
    Phone: 800-242-2787 ext 2526
    Fax: 801-584-5207
    Email: hunter.best@aruplab.com
  • Director: Yuan Ji, PhD, MBA, Medical Director
    Phone: 800-242-2787 x3251
    Fax: 801-584-5207
    Email: yuan.ji@aruplab.com
  • Director: Rong Mao, MD, Medical Director
    Phone: 800-242-2787 ext 3165
    Fax: 801-584-5207
    Email: rong.mao@aruplab.com
  • Director: Sherin Shaaban, PhD, MD, Medical Director
    Phone: (801) 583-2787
    Fax: (801) 584-5207
    Email: sherin.shaaban@aruplab.com
  • Patti Krautscheid, MS, CGC, Genetic Counselor
    Phone: 800-242-2787 ext 3439
    Fax: 801-584-5236
    Email: patti.krautscheid@aruplab.com
  • Heidi Nagel, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-242-2787 x6488
    Fax: 801-584-5236
    Email: heidi.nagel@aruplab.com
  • Julie Solimine, MS, Genetic Counselor
    Phone: 800-242-2787 ext 2054
    Fax: 801-584-5236
    Email: julie.solimine@aruplab.com
  • Sheila Upton, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
    Phone: 800-242-2787 x2093
    Fax: 801-584-5236
    Email: sheila.upton@aruplab.com

Conditions and tests

  • 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 response1 test
  • Alstrom syndrome1 test
  • Alzheimer disease2 tests
  • Amelocerebrohypohidrotic syndrome1 test
  • 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 disorder1 test
  • 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 response4 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 response1 test
  • 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 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, 311 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
  • DK1-congenital disorder of glycosylation1 test
  • Doxepin response1 test
  • 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
  • Epileptic encephalopathy, infantile or early childhood, 21 test
  • Epiphyseal dysplasia, multiple, 31 test
  • Episodic ataxia type 11 test
  • Erythrocyte Alloimmunization1 test
  • Erythrocytosis, familial, 31 test
  • Erythrocytosis, familial, 41 test
  • Escitalopram response1 test
  • Fabry disease2 tests
  • Familial adenomatous polyposis 13 tests
  • Familial adenomatous polyposis 23 tests
  • Familial amyloid nephropathy with urticaria AND deafness1 test
  • Familial amyloid neuropathy3 tests
  • 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 thrombocytopenia1 test
  • 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
  • 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 isoimmunization5 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 disease4 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 disability1 test
  • 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 response1 test
  • 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-TorrĂ© 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-ketotic hyperglycinemia1 test
  • 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 response1 test
  • 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 response1 test
  • 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 response1 test
  • Thrombocytopenia 11 test
  • Thrombocytopenia 21 test
  • Thrombophilia3 tests
  • Thrombophilia due to activated protein C resistance2 tests
  • Thrombophilia due to factor V Leiden2 tests
  • Thrombophilia due to thrombin defect3 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
  • 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

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