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

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

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/

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