Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

NIPD for congenital adrenal hyperplasia – CYP21A2 haplotype testing

Clinical Indication ID & Name


NIPD for congenital adrenal hyperplasia - CYP21A2 haplotype testing

Test Group


Test code


Test name


Target genes


Test scope


Test method/ technology


Optimal Family Structure


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


Overlapping idications


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


Education resources


Service updates


Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form