Home > Specialties > IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, CYP21A2

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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Mayo Medical Laboratories

Company Type: Parent

PerkinElmer Inc

Company Type: Parent

As a global technology leader, PerkinElmer is taking action to harness the power of insights and transform them into knowledge to deliver innovative, differentiated solutions for our customers. From critical therapeutic and disease research and prenatal screening, to environmental testing and industrial monitoring, we are actively engaged in improving health and advancing quality and longevity of life all around the world.

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