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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
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
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