Clinical Indication ID & Name
NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing
Test Group
NIPD
Specialties
Test code
R250.1
Test name
N/A
Target genes
CYP21A2
Test scope
Haplotype testing
Test method/ technology
NIPD
Optimal Family Structure
n/a
Eligibility Criteria
Testing Criteria
1. Pregnancy at risk of 21 hydroxylase deficiency requiring NIPD by haplotype testing following discussion with testing laboratory, AND
2. Parents have had a previous child affected with CAH and have both been confirmed as carriers, AND
3. DNA is available from the parents and the affected child, AND
4. Current pregnancy has been confirmed as XX
Referrals for testing will be triaged by the Genomic Laboratory; testing should be targeted at those where a genetic or genomic diagnosis will guide management for the proband or family.
Requests should be discussed in advance with the testing laboratory to ensure that necessary samples and validation work has been performed
Testing may not be possible in multiple pregnancies. In such cases contact the laboratory for discussion
Where in Pathway
Testing performed after 8 weeks in pregnancy as confirmed by dating scan. Note pre-pregnancy work up (R389) is required to enable confirmation that NIPD is possible and to allow timely delivery in pregnancy
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
Please refer to the test request form.
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Form not available, please contact us to enquire.
Consent record
See consent guidance in test request form
Sample requirements
Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old