CYP21 (steroid 21-hydroxylase) genotyping (CAHDetx)

Clinical significance

• confirms biochemical findings of congenital adrenal hyperplasia & identifies carriers of CYP21 defects

Methods

• PCR & multiplex mini-sequencing
• detects 12 most common mutations & large gene deletion/ conversions in CYP21 gene

Specimen

• 3 mL, whole blood

More general terms

• genotyping (allele testing)

Additional terms

• cytochrome P450 21A2; cytochrome P450 21; steroid-21-beta-hydroxylase (CYP21A2, CYP21B)

Components

• CYP21A2 gene mutation; steroid 21 hydroxylase gene mutation