›
›

Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R250

NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing

Test Group

NIPD

Specialties

Clinical Genetics Fetal Medicine

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

Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT

Contact with queries

gst-tr.southeastglh@nhs.net

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

Rare Disease Order Form Record of Discussion Form

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