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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
Related
CYP21 (steroid 21-hydroxlase) genotyping (CAHDetx)
cytochrome P450 21A2; cytochrome P450 21; steroid-21-beta-hydroxylase (CYP21A2, CYP21B)
General
gene mutation testing; gene mutation analysis
References
Loinc
Component-of
CYP21 (steroid 21-hydroxlase) genotyping (CAHDetx)