Genetic testing can help determine if you carry a gene mutation responsible for cystic fibrosis. It may be done using blood, saliva, or cheek tissue samples.

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. When two carriers of CF gene mutations have a child, their little one has a chance of not only being a carrier of CF gene mutations but also of having CF.

Every person has two copies of the CF transmembrane conductance regulator (CFTR) gene.

One is inherited from each of your parents. In order to have CF, you must have a mutation in both gene copies. If you have a mutation in only one gene copy, you are considered a CF carrier.

Many people don’t know that they’re a CF carrier. Carrier testing for CF is used to help determine if you have a mutation on one of your CFTR genes. It involves taking a blood, saliva, or tissue sample from inside your cheek. This sample is sent away to a lab to be analyzed.

The standard genetic test to determine if you carry a CF gene mutation focuses on 23 of the most common mutations. A positive test result may mean that you’re a CF carrier. But you can also confirm any positive screening test with a healthcare team and any additional testing.

You may still be a carrier for CF and test negative if you have a genetic mutation not examined in the test. Negative results are less accurate than positive results in carrier tests for CF.

If you have two parents who are carriers of a CF gene mutation, there’s a 25% chance you’ll inherit CF. There’s also a 50% chance of you being a carrier of the CF gene mutation.

If you have one parent with CF and one parent who carries a CF gene mutation, there’s a 50% chance of you inheriting CF and a 50% chance of you being a carrier of the CF gene mutation.

If you have only one parent who carries a CF gene mutation, there’s still a 50% chance you of becoming a carrier. There’s not a chance of you inheriting CF though.

A family history of CF makes you more likely to be a carrier of CF.

You’re also more likely to be a carrier of CF if you have certain racial and ethnic backgrounds. For example, CF is seen most commonly in white individuals.

Research indicates that carriers of a CF gene mutation are at a greater risk of many of the same conditions associated with CF. These include:

Carriers of CF gene mutations are also more likely to experience:

Symptoms of CF can include:

  • frequent coughing that may include mucus
  • shortness of breath or wheezing
  • frequent lung infections, bronchitis, and pneumonia
  • very salty tasting skin
  • nasal polyps
  • greasy stools with a foul odor

Carriers of a genetic mutation responsible for CF may not have any symptoms of CF. If you’re a carrier and do experience CF symptoms, they may be too mild to recognize.

The cost of a CF carrier test can vary depending on where you have it done. CF carrier testing may be at least partially covered by your health insurance. Your insurance company can offer more information about what your out-of-pocket cost will be.

It’s possible to carry a genetic mutation for CF and not show any symptoms. If two carriers of CF have a child, there’s a 25% chance that their child will have CF and a 50% chance that their child will be a carrier of a genetic mutation that can cause CF.

If you’re planning to become pregnant and have a family history of CF, you may wish to talk with a doctor or healthcare professional about genetic testing to determine if you’re a CF carrier. While this testing doesn’t guarantee specific outcomes, it can help you to make more informed decisions.