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CYP21 (steroid 21-hydroxlase) 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
Related
cytochrome P450 21A2; cytochrome P450 21; steroid-21-beta-hydroxylase (CYP21A2, CYP21B)
General
genotyping (allele testing)
References
- Esoterix: CAHDetx
http://www.esoterix.com/files/ss_cah.pdf
Components
CYP21A2 gene mutation; steroid 21 hydroxylase gene mutation