CAH Gene Test | CYP21A2 (21-Hydroxylase)
Uncover the genetic cause of adrenal hormone imbalance.
The CAH Gene Test (CYP21A2) is a targeted genetic analysis for individuals with suspected or confirmed congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. It is also appropriate for family members of affected individuals and for couples seeking preconception carrier screening. Using PCR-hybridisation, the test detects common mutations in the CYP21A2 gene, which encodes the 21-hydroxylase enzyme essential for cortisol and aldosterone synthesis.
CYP21A2 Gene Mutations
- Targeted analysis for common CYP21A2 mutations using PCR-hybridisation
Why it matters
Identifying CYP21A2 mutations confirms the diagnosis, guides clinical management, and enables informed family planning. Early detection can prevent life-threatening adrenal crises and supports personalised treatment for affected individuals.
CYP21A2 Gene Mutations
- Targeted mutation analysis by PCR-hybridisation
No special preparation required.
For blood tests, we recommend drinking plenty of water beforehand to ensure smooth sample collection. If you are taking any regular medication, continue to do so unless advised otherwise by your doctor.
Important Clinical Information:
This test is a screening tool to monitor and support your overall health. It does not replace your GP or consultant.
Always discuss your test results, especially any abnormal results, with your GP, who can interpret them in the context of your medical history and overall health.
- Check whether your test needs fasting: We will tell you when you book, and the FAQ for your test will also say.
- Drink plenty of water beforehand: Being well hydrated makes blood collection easier.
- Wear clothing with sleeves that roll up easily.
- Bring a list of any medicines you take.