Cyp21 Genotyping
From Anvita Health Wiki
Contents |
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
References
- Esoterix: CAHDetx [1]
