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
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form