Cystic fibrosis (CF) is a genetic condition that causes sticky mucus to build up in the lungs and digestive system. This causes lung infections and problems with digesting food. There is no cure for CF, and although treatments are available to make the condition easier to live with, sadly in severe cases, life expectancy is shortened.
The East Midlands and East of England (EMEE) Genomics Laboratory Hub delivers two types of testing elating to cystic fibrosis: carrier testing and diagnostic testing.
Adult carrier testing for cystic fibrosis
It is possible to carry the gene responsible for cystic fibrosis without experiencing any symptoms of the condition. If you have a family member who has CF, or a partner or family member who is a carrier of the genomic alteration responsible for CF, you can also have a test to find out if you are a carrier. When two members of a couple are both carriers, they have an increased chance of having a child with cystic fibrosis.
In the East of England, carrier testing for cystic fibrosis can be provided directly through your GP.
If you or your GP have questions about cystic fibrosis carrier testing, please contact the East Anglian Clinical Genetics Service on: 01223 216446. GPs can also contact the East Anglian Regional Genetics Laboratory on: 01223 348866.
Diagnostic testing for cystic fibrosis
In the UK, all newborn babies are screened for cystic fibrosis as part of the newborn ‘blood spot’ or ‘heel prick’ test, carried out shortly after they’re born. If a screening test suggests your child may have cystic fibrosis, they’ll need these additional tests to confirm that they have the condition:
- A sweat test –to measure the amount of salt in their sweat, which will be abnormally high in someone with cystic fibrosis.
- A genetic test –where a sample of blood or saliva is checked for the faulty gene that causes cystic fibrosis. These tests can also be used to diagnose cystic fibrosis in older children and adults who didn’t have the newborn test.
See our Rare Diseases page for details of the NHS Genomic Medicine Service regarding testing and laboratories.
- Cystic fibrosis carrier testing: information sheet
- Streamlining cystic fibrosis carrier testing in East Anglia