CAH is an inherited disorder of steroidogenesis with a wide spectrum of expression. In about 95% of cases the condition is the result of 21-hydroxylase deficiency, an autosomal recessive condition mapping to CYP21A2 on chromosome 6p21.3. The incidence of CAH based on biochemical criteria is 1 in 14,000 including the non-classical form; a carrier frequency of 1 in 50 is used for risk calculations.
We accept referrals for mutation scanning to confirm a clinical diagnosis in affected patients and/or parents. We offer prenatal diagnosis once the familial mutation(s) are known. This usually follows fetal sexing (which can be offered using conventional or non-invasive prenatal diagnosis – see service profile). In addition we can offer carrier testing in at-risk family members.
Price & reporting times
NHS referrals to this service are paid for where there is an existing specialist commissioning contract for genetic testing. In other cases please contact the lab for prices.
|Test||Price (NHS)||Price (non-NHS)||TRT|
|Common mutation screen||POA||POA||28 calendar days|
|Single mutation test||POA||POA||28 calendar days|
|Prenatal diagnosis||POA||POA||3 calendar days|
|Family testing (index + parents)||POA||POA||28 calendar days|
|DNA sequencing (second tier testing)||POA||POA||56 calendar days|
Test validation & quality assurance - information for users
The eight common mutations account for approximately 70% of 21-hydroxylase deficiency mutations in the UK population (estimated following analysis of >600 index cases in-house).
Please see our referral guidelines for more information.
OMIM Number(s) - 201910
Gene(s) - CYP21A2