Carrier Testing for CF

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
People with CF have two copies of an altered gene (CFTR), one inherited from each parent.

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 mutation.

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.

Further Information on Clinical Genetics:

Department of Clinical Genetics, CHI Crumlin - Crumlin Hospital
Tel: 01 409 6739

Email: Clinical.genetics@olchc.ie

Please find below links you may require.

PLEASE NOTE: A CHI GENETICS REQUEST FORM MUST BE INCLUDED WITH ALL SAMPLES FOR CF TESTING, WITH THE CONSENT SECTION FULLY COMPLETED FOR ACCEPTANCE.

Both FORM 1 and FORM 2 must be completed and submitted together with samples.

Form 1: Request for Genetic Analysis (Please ensure you follow the Instructions for Submitting Samples for Genetic Testing on page two of this document)

Form 2: Cystic Fibrosis Genetic Testing Questionnaire

Glossary of Genetic Terms

Information for Healthcare Professionals:

CHI at Crumlin
Tel.: (01) 409 6739
Email: Clinical.genetics@olchc.ie

CHI at Temple Street
Tel.: (01) 878 5578

For urgent queries please contact the hospital switchboard and request to speak to the on-call consultant: 00353 (0) 1 409 6100.

For non-urgent queries, please contact 00353 (0) 1 409 6739.

HealthLink: Information for GPs or Consultants making referrals to the Department of Clinical Genetics

Contact the CFI Member Services Team as follows:

Samantha Byrne

Caroline Heffernan Rory Tallon
Member Services Senior Co-ordinator CF Advocate CF Advocate
01 496 2433 087 932 3933 087 932 3930
sbyrne@cfireland.ie cheffernan@cfireland.ie rtallon@cfireland.ie