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.

Clinical Indication ID & Name

R185

Cystic fibrosis carrier testing

Test Group

Core

Specialties

Clinical Genetics Fetal Medicine Gynaecology Respiratory Medicine

Test code

R185.1

Test name

N/A

Target genes

CFTR

Test scope

n/a

Test method/ technology

Targeted mutation testing

Optimal Family Structure

n/a

Eligibility Criteria

1. Prospective egg or sperm donor
2. Family history of CF in close relative (up to 4th degree, i.e. in 1st cousin’s child or closer relative), or in a similar close relative of partner
3. Partner of a known CF carrier
4. Close consanguineous couple (1st cousins), AND from an ethnic group with a high carrier frequency
5. Both parents of a fetus with echogenic bowel (where both parents are available)
6. Both parents of a fetus with dilated bowel (where both parents are available)

Commissioning group

Core

Overlapping idications

R184 Cystic fibrosis diagnostic test should be used where a fetus has echogenic bowel and BOTH parents are not available for testing

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

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form

Request / Find a Test Tool