Each of us carries two copies of every gene, one inherited from our mother and one inherited from our father.
People with cystic fibrosis (CF) have two copies of an altered gene, CFTR, one inherited from each parent. Approximately 1 in 19 people of Irish descent are said to ‘carry’ one copy of the altered gene that causes cystic fibrosis - these people do not have CF. Both copies of the gene must be altered in order to have cystic fibrosis.
If both parents 'carry' the faulty or defective gene, their child has:
- 25% chance of being born with CF
- 50% chance of being a healthy carrier of CF, but not having the condition
- 25% chance of not having CF and not being a carrier of the altered gene
Testing is available through the Molecular Genetics Laboratory at the Department of Clinical Genetics, CHI Crumlin, Dublin 12.
Carrier testing is available to adults over the age of 16 where there is a family history of CF, or where a family member/partner has been found to carry a CF gene.
To arrange a test, your GP can take a blood sample, fill in the relevant documentation and send everything directly to the Department of Clinical Genetics for testing. Essential information and sample/packaging specifications can be found on the CHI website. The results will be sent back to your GP.
Please note that the current wait time for results is approximately 14 weeks.