Carrier Screening

Carrier Screening

Carrier screening is a genetic test to identify if people have changes to the gene that causes CF. It is a simple blood test or a saliva swab. Making the decision to know your CF carrier status is an individual choice. However, you must have information about CF to make an informed choice about carrier screening.

This test screens for over 2,000 CF genotypes, but there can be some rare ones that won’t be detected routinely. 

If you have a family history of CF or know a relative is a carrier, you must find out the specific gene change in your family. This will ensure that you are being screened for that particular gene change.

Genetic testing for CF, Fragile X syndrome and spinal muscular atrophy is now bulk billed for patients covered by Medicare. If you are not covered by Medicare, you should discuss the cost of the testing with your GP. Tests can be ordered before getting pregnant or during early pregnancy by your GP, obstetrician, fertility specialist or genetic counsellor. If your results show you are a CF carrier, it’s recommended that you see a genetic counsellor who can discuss your options and the potential impacts for you and your family.