Do I Need Carrier Testing for Cystic Fibrosis? What You Should Know

Cystic fibrosis (CF) is a serious inherited disease that leads to problems with food digestion and respiration due to the sticky mucus that builds up the intestines and lungs. It’s a particular worry for parents who are rightly concerned about passing the condition on to their children - something that carrier testing (a.k.a. gene testing) can help with.

In order for children to inherit cystic fibrosis from their parents, they must, typically, have one CFTR (cystic fibrosis transmembrane conductance regulator) copy from the father and another from the mother. CF carriers, on the other hand, are those who only have one gene mutation, meaning they don’t actually have the disease and are not at risk of the disease themselves, but are at risk of transmitting the condition to their children.

Carrier Testing For CF & How It Works

Essentially, carrier testing is undertaken to find out if a CFTR gene mutation is present, with the test itself examining a sample of a person’s DNA. Typically, DNA is obtained from a blood sample but can be from other body tissues for the needle phobic patient.

According to official figures, around 1 in 19 people in Ireland are CF carriers in that they have one of the CFTR gene mutations. So, how do you know if you should get tested?

Is CF Carrier Testing Necessary For Me?

Typically, CF gene testing is something of a personal choice made in consultation with your Doctor. In medical practice, this is the form of testing that is advised for any couples who are concerned about having a child with Cystic Fibrosis or who may have a family member with CF.

What this will highlight is whether neither, one or both of the parents are CF carriers, allowing them to make the best decisions for their family. This testing offers peace of mind for those to whom Cystic Fibrosis is a concern and, in the event of mutations being identified, facilitates future reproductive options such as prenatal diagnosis, or predictive testing on embryos in a preimplantation genetic diagnosis facility.

Need More Info on Carrier Testing?

We know that these matters can be stressful and more than a little overwhelming sometimes, but you can trust our team to meet the very highest standards of care and professionalism. We aim to achieve excellence in both the carrier testing we carry out and the empathy and support we provide to all of our patients.

To learn more about CF carrier testing or any of our gene testing services, we recommend that you visit us online at www.genetics.ie.

Alternatively, to schedule an appointment with one of our experts, either click the link on our homepage or call us on 01 206 4329.