Cystic fibrosis (also called CF) is a chronic health condition in which very thick mucus builds up in the body. This causes problems with breathing and digestion. Digestion is the way your body processes the food you eat. A chronic health condition is one that lasts for 1 year or more that needs ongoing medical care and that can limit your usual activities and affect daily life.
Mucus is a fluid that normally coats and protects parts of the body. It?s usually slippery and watery. But in CF, the mucus is thicker and sticky. It builds up in the lungs and digestive system and can cause problems with how you breathe and digest food. The buildup of mucus in the body makes it easy for harmful bacteria to grow. This can lead to infections.
More than 30,000 people in the United States have CF. More than half of these people are 18 or older. About 1,000 new cases are diagnosed each year. Most people with CF are diagnosed by age 2.
Most women with CF can have a healthy pregnancy. But CF can cause complications before and during pregnancy.
CF gene mutation testing results must be interpreted in the context of the person's signs and symptoms and physical examination as well as medical and family history, ethnic background, and results of other laboratory tests.
If a CF gene mutation panel identifies two copies of gene mutations, then the person is diagnosed with cystic fibrosis. The test, however, cannot predict how severe or mild the symptoms may be. People with the exact same mutations may have very different outcomes.
If the CF gene mutation panel reveals a single copy of a mutation or is negative and the person tested has signs and symptoms of CF, then further mutation testing, a sweat chloride test, and/or other laboratory testing to evaluate organ function are warranted. The person may have a more rare form of CF that has not been identified or may have a lung or pancreatic disease or condition other than cystic fibrosis. The person may also be a carrier since some CF carriers may experience signs and symptoms related to CF.
If the CF gene mutation panel is positive for a single copy of a mutation and the person tested does not have signs and symptoms, then it is likely that the person is a CF carrier. If someone is identified as a carrier, then the siblings of this person may also want to verify their carrier status.
If the panel results are negative for mutations and the person has no signs or symptoms, then it is likely that the person does not have CF and is not a carrier. There is still a slight risk that someone who tests negative could be a carrier of a rare mutation not identified with the standard panel.
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