How is cystic fibrosis diagnosed?

Cystic fibrosis (CF) is a genetic disorder that affects the lungs, digestive system, and other parts of the body. Diagnosis of CF usually begins with a physical exam and family history. The doctor may also perform a sweat test, which measures the levels of salt in the sweat. If the levels are high, it may indicate CF. Genetic testing may also be performed to look for mutations in the CFTR gene that cause CF.

Imaging tests such as chest X-rays and computed tomography (CT) scans may also be used to detect changes in the lungs caused by CF. Lung function tests can be used to measure the amount of air that can be breathed in and out of the lungs. This test can provide insight into how well the lungs are functioning.

Finally, a bronchoscopy may be used to take samples of mucus from the lungs. These samples are tested for the presence of bacteria or other pathogens that can cause lung infections in people with CF. A bronchoscopy can also be used to look for blockages in the airways caused by thick, sticky mucus. With all of these tests, a doctor can get a clear picture of the patient’s condition and determine if they have CF.