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What is cystic fibrosis?
Cystic fibrosis is a rare genetic disorder characterized by impaired lung and digestive function. A person must have two variants in the CFTR gene in order to have this genetic condition. People with just one variant in the CFTR gene are called carriers. They're not expected to have the cystic fibrosis themselves, but they could pass their variant on to their future children.
What causes cystic fibrosis?
Cystic fibrosis is caused by variants (differences) in the CFTR gene. The CFTR gene contains instructions for making a protein that helps control the salt and water balance of certain organs. Certain variants in the CFTR gene prevent the protein from working properly, which can cause the lungs, pancreas, and other organs to produce abnormally thick mucus. This mucus can clog the respiratory tract and impair digestion, leading to signs and symptoms of cystic fibrosis.
When symptoms develop
Symptoms of cystic fibrosis typically develop during infancy.
Typical signs and symptoms of cystic fibrosis
- Chronic cough
- Lung infections
- Pancreatic insufficiency
- Infertility in males
Ethnicities most affected
Cystic fibrosis is one of the most common genetic disorders, and is most common in people of European descent. Depending on ethnicity, between 1 in 25 and 1 in 100 people in the U.S. carries a variant for cystic fibrosis.
23andMe can tell you whether you may be a carrier for cystic fibrosis. Being a carrier means you have a genetic variant that you could pass down to your future children. 23andMe does not test for all possible genetic variants linked to cystic fibrosis, and individuals who have zero variants detected still have a chance of being a carrier for cystic fibrosis.
23andMe tests for 29 genetic variants in the CFTR gene linked to cystic fibrosis and is most relevant for people of Ashkenazi Jewish, European and Hispanic/Latino descent. The Cystic Fibrosis Carrier Status report* is included in the 23andMe Health + Ancestry Service.