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Cystic Fibrosis (CF) Carrier Testing in Primary Care
Cystic fibrosis (CF) is a common genetic disease in the UK. Some individuals are able to access genetic testing to determine if they are a carrier of CF, helping them understand their chance of having a child with CF. CF carrier testing can now be ordered by GPs. This curated collection is designed for GPs who may be ordering this test in the future. To learn how this is relevant for your practice, click to discover our Bitesize resources and Toolkit.
Contents:
- Why do genetic testing in primary care?
- Brief overview of cystic fibrosis and genetics
- Carrier testing: When do we offer testing? How do you request a test?
- How to deal with results
- Case scenarios
Advances made in the field of genetic medicine are having an impact in primary care.
As the gateway to the NHS, primary care practitioners are vital for:
- The early identification of genetic issues,
- Clinical management of genetic conditions,
- Communicating genetic information.
To find out more download the PDF.
A cystic fibrosis (CF) carrier test is a genetic test that looks to see if an individual is a carrier of CF.
This test is offered to individuals who are not affected with CF but are at risk of being carriers.
To find out more download the PDF.
NHS Cystic fibrosis (CF) carrier testing can now be ordered by general practitioners in primary care.
Up to date eligibility criteria and who can order genetic tests in England are given in the NHS National Genomic Test Directory.
The National Genomic Test Directory code for CF carrier testing is R185.
To find out more download the PDF.
Some genetic conditions are more common in specific ethnic groups. Learn how this impacts eligibility for CF carrier testing and the impact on the reporting of results.
To find out more download the PDF.
Consenting a patient for CF carrier testing is an important step in the testing pathway.
It is essential that this discussion takes place prior to ordering this test.
Download the PDF to find out more.
To order the test you will need:
- A viable sample,
- A completed test request form.
A Molecular Genetic Testing request form can be found on the North Thames GMS website.
Download the PDF to find out more.
There are three possible outcomes to a CF carrier test:
- Your patient is a carrier of CF
- Your patient is not confirmed carrier of CF (This result reduces the chance that your patient is a carrier of CF but does not rule it out entirely).
- Your patient has an unexpected finding
Download the PDF to find out what to do with a CF carrier test result.