CYP21A2 gene mutation; steroid 21 hydroxylase gene mutation

Clinical significance

• confirms biochemical findings of congenital adrenal hyperplasia & identifies carriers of CYP21 defects (see CYP21 genotyping)

Specimen

• 3 mL, whole blood

More general terms

• gene mutation testing; gene mutation analysis

Additional terms

• CYP21 (steroid 21-hydroxylase) genotyping (CAHDetx)
• cytochrome P450 21A2; cytochrome P450 21; steroid-21-beta-hydroxylase (CYP21A2, CYP21B)

Component of

• CYP21 (steroid 21-hydroxylase) genotyping (CAHDetx)