Clinical Indication ID & Name
Cystic fibrosis carrier testing
Test Group
Core
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
Supporting documents
Rare Disese WGS Clinician pack
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form