Multiple acyl-CoA dehydrogenase deficiency 2 tests.Mosaic sex chromosome aneuploidy 2 tests.Microcephaly, normal intelligence and immunodeficiency 1 test.Methylmalonate semialdehyde dehydrogenase deficiency 1 test.Melanoma, cutaneous malignant, susceptibility to, 2 2 tests.Medium-chain acyl-coenzyme A dehydrogenase deficiency 4 tests.Maternal care for suspected chromosomal abnormality in fetus 9 tests.Lysosomal acid lipase deficiency 1 test.Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 2 tests.Known OR suspected fetal abnormality affecting management of mother 9 tests.Isovaleryl-CoA dehydrogenase deficiency 2 tests.Inherited renal cancer-predisposing syndrome 1 test.Hypogonadotropic hypogonadism 1 with or without anosmia 1 test.Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 1 test.Hydrops fetalis, alpha-thalassemia-related 1 test.Homocystinuria due to methylene tetrahydrofolate reductase deficiency 1 test.Holocarboxylase synthetase deficiency 2 tests.Hereditary pheochromocytoma-paraganglioma 2 tests.Hereditary nonpolyposis colon cancer 5 tests.Hereditary factor XI deficiency disease 1 test.Hereditary factor VIII deficiency disease 1 test.Hereditary diffuse gastric adenocarcinoma 5 tests.Hereditary cancer-predisposing syndrome 1 test.Hereditary breast ovarian cancer syndrome 6 tests.Hepatitis C virus infection, response to therapy of 1 test.Glycogen storage disease due to glucose-6-phosphatase deficiency type IA 1 test.Fragile X-associated tremor/ataxia syndrome 1 test.Fanconi anemia complementation group C 1 test.Familial multiple polyposis syndrome 3 tests.Familial adenomatous polyposis 2 4 tests.Familial adenomatous polyposis 1 1 test.Disorder of the urea cycle metabolism 1 test.Disorder of organic acid metabolism 1 test.Disorder of cardiovascular system 1 test.Disorder due cytochrome p450 CYP2D6 variant 1 test.Disorder due cytochrome p450 CYP2C9 variant 1 test.Dihydropyrimidine dehydrogenase deficiency 2 tests.Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 1 test.Deficiency of phosphoserine phosphatase 1 test.Deficiency of malonyl-CoA decarboxylase 2 tests.Deficiency of isobutyryl-CoA dehydrogenase 2 tests.Deficiency of hydroxymethylglutaryl-CoA lyase 2 tests.Deficiency of butyryl-CoA dehydrogenase 2 tests.Deficiency of acetyl-CoA acetyltransferase 2 tests.Deficiency of 3-hydroxyacyl-CoA dehydrogenase 1 test.Deficiency of 2-methylbutyryl-CoA dehydrogenase 2 tests.CYP2C19-related poor drug metabolism 2 tests.Coronary artery disease, susceptibility to 2 tests.Congenital plasminogen activator inhibitor type 1 deficiency 1 test.Congenital hyperammonemia, type I 1 test.Colorectal cancer, susceptibility to, 10 3 tests.Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 2 tests.Chromosome 1p36 deletion syndrome 1 test.Cholesteryl ester storage disease 1 test.Carnitine palmitoyltransferase II deficiency 1 test.Carnitine palmitoyl transferase 1A deficiency 2 tests.Carnitine acylcarnitine translocase deficiency 1 test.Breast-ovarian cancer, familial, susceptibility to, 4 2 tests.Breast-ovarian cancer, familial, susceptibility to, 3 2 tests.Breast cancer, susceptibility to 5 tests.Breast and colorectal cancer, susceptibility to 2 tests.Beta-hydroxyisobutyryl-CoA deacylase deficiency 1 test.BAP1-related tumor predisposition syndrome 2 tests.Argininosuccinate lyase deficiency 2 tests.Alpha-methylacyl-CoA racemase deficiency 1 test.46,XX testicular disorder of sex development 1 test.3-methylglutaconic aciduria type 1 2 tests.3-methylcrotonyl-CoA carboxylase 1 deficiency 2 tests. 2-aminoadipic 2-oxoadipic aciduria 2 tests.225 conditions/phenotypes with 175 tests.
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