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 using paternal exclusion testing for very rare conditions where familial mutation is known

Clinical Indication ID & Name

R249

NIPD using paternal exclusion testing for very rare conditions where familial mutation is known

Test Group

NIPD

Specialties

Test code

R249.1

Test name

N/A

Target genes

As per tested relative

Test scope

n/a

Test method/ technology

NIPD

Optimal Family Structure

n/a

Eligibility Criteria

Testing can be offered when paternal exclusion testing can be offered in families at risk of a recessive disorder when parents carry different mutations or where the father has an autosomal dominant mutation or is known mosaic for a mutation. NIPD should only be offered for conditions where invasive testing would otherwise be offered and following discussion with the testing laboratory.

Note: pre-pregnancy work up (R389) is required to enable confirmation that NIPD is possible and to allow timely delivery in pregnancy

Testing 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

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

gos-tr.norththamesgenomics@nhs.net

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