Inherited disorders

CYP21A2

Congenital adrenal hyperplasia

Clinical area
Inherited disorders
Method
Sanger sequencing
Sample
EDTA whole blood · Extracted DNA
Report languages
EN · AR · RU

About this test

Sequences CYP21A2, the 21-hydroxylase gene responsible for most cases of congenital adrenal hyperplasia, including classic and non-classic forms.

When to order

Raised 17-OH progesterone, ambiguous genitalia or salt wasting in newborns, early puberty, or hirsutism and infertility in women.

Results are reported to the ordering physician and should be interpreted in clinical context.

Request this test

Offer this test to your patients.

Contract pricing and turnaround times are provided on request for laboratories and clinics.