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

R305

NIPD for cystic fibrosis - mutation testing

Test Group

NIPD

Specialties

Clinical Genetics Fetal Medicine Obstetrics

Test code

R305.1

Test name

N/A

Target genes

CFTR

Test scope

n/a

Test method/ technology

NIPD

Optimal Family Structure

n/a

Eligibility Criteria

1. Pregnancy at risk of cystic fibrosis due to known CFTR mutation(s) for which NIPD by mutation testing is required following discussion with testing laboratory, AND
2. Both parents confirmed to be carriers of a different mutation, AND
3. Father is a carrier of one of the following CFTR mutations p.(Phe508del), c.489+1G>T, p.(Gly542*),
p.(Gly551Asp), p.(Trp1282*) p.(Arg553*), p.(Ile507del), p.(Arg560Thr), p.(Ser549Asn), p.(Ser549Arg)

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

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