IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CYP21A2
Definition : Molecular assay reagents intended to identify mutations in the cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2) gene, located at chromosome 6p21.3, which encodes for the manufacture of an enzyme steroid 21 hydroyxlase that belongs to the cytochrome P450 family of enzymes. P450 cytochrome is involved in the processing of ingested drugs and synthesizing of cholesterol, steroid hormones, and lipids. Mutations at this locus have been identified in patients with several types of congenital adrenal hyperplasia (CAH), including salt wasting (SW) and simple virilizing (SV) types.
Entry Terms : "Congenital Adrenal Hyperplasia, 21-Hydroxylase Deficient Gene Mutation Detection Reagents" , "CAH, 21-OHD Gene Mutation Detection Reagents" , "21-OHD Gene Mutation Detection Reagents" , "Virilizing CAH Gene Mutation Detection Reagents" , "Salt-wasting CAH Gene Mutation Detection Reagents" , "21-Hydroxylase Deficiency Gene Mutation Detection Reagents" , "Congenital Adrenal Hyperplasia (CAH) Gene Mutation Detection Reagents" , "CYP21A2 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, CYP21A2"
UMDC code : 24379
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