Cystic Fibrosis Carrier Screening: Genetic Testing Information

Cystic fibrosis carrier screening is a genetic test that identifies individuals who carry a mutation in the CFTR gene associated with cystic fibrosis. It helps in family planning and understanding the risk of passing on the genetic disorder.

Cystic fibrosis carrier screening FAQ

Image credit: cfwa.org.au

What is CF carrier testing?

Call us at 1-800-FIGHT CF Carrier (or genetic) testing not only plays a key role in the diagnosis of cystic fibrosis, but testing also allows parents to find out what their chances are of having a child with CF to help inform important family planning decisions.

Are You a carrier of cystic fibrosis?

The American Lung Association estimates that 1 in 30 Americans is a carrier for cystic fibrosis (CF). Carriers of CF gene mutations may only become aware of this after genetic testing, since they may not have any CF symptoms. It’s important to know if you’re a carrier of CF gene mutations for the health of any future children you may have.

How do you know if you are a cystic fibrosis carrier?

The only way to know for sure if you are a cystic fibrosis carrier is to get genetic testing for CF. This is done by taking a blood sample or cells from your cheek, and then sending it out to a lab for DNA testing. While this test cannot detect all of the potential CFTR mutations, it does screen for the most common disease-causing mutations.

How do I get a carrier test for cystic fibrosis?

Speak to your GP if you would like to have carrier testing. If you have dificulty getting a carrier test through your GP, you can show them this information or contact the Cystic Fibrosis Trust Helpline (details at the end of this factsheet).

Can I get genetic testing if I have cystic fibrosis?

Genetic testing is available for family members of someone who has cystic fibrosis (CF), to find out if they are carriers of CF mutations. • where you can go for testing and further information. This is a complicated topic. If you have any questions please discuss it with your GP, or CF team if you have access to one.

How well do you know cf & cf carrier screening?

Many studies have shown that initial knowledge of CF and CF carrier screening is low, 10, 12, 21, 22, 24, 28, 29, 60, 61 with gender and education significantly influencing knowledge level: 12, 47, 62 well-educated women had higher knowledge scores.