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
n/a
Test method/ technology
NIPD
Optimal Family Structure
n/a
Eligibility 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 female
Requests should be discussed in advance with the testing laboratory to ensure that necessary samples and validation work has been performed
Testing is not currently possible for consanguineous couples
Testing may not be possible in multiple pregnancies. In such cases contact the laboratory for discussion
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
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