Cystic Fibrosis - Symptoms - CFTR mutation - Diagnosis - Treatment - Prognosis

Doctors diagnose cystic fibrosis (CF) based on the results from various tests.

• Newborn Screening- Most of the advanced countries, who also have a sizable CF- affected population, use genetic tests to screen newborns for the disease.

• Sweat Test – A sweat test is possibly the most practical way of detecting CF. Sweat is induced on a small patch of skin which is then collected on a piece of paper or a pad to be analyzed. High salt levels in the sweat indicate CF. This test is carried out twice to confirm the diagnosis.

• Further genetic tests may be carried out to further detect the kind of aberration within the CFTR gene.

• A chest x-ray will be taken to study the effect of the disease on the heart and lungs.

• A sinus X- ray helps to detect sinusitis.

• Lung Function test (LFT) will be carried to analyze the functioning capacity of the lungs.

• Sputum culture- A sample of sputum from the patient is usually taken to detect the presence of the bacteria called Pseudomonas that causes lung infection in CF patients. The presence of the bacteria is an indication that the patient has advanced CF and may require aggressive treatment. It must be noted that the bacteria does not respond to standard antibiotic therapy.

• Prenatal genetic screening through amniocentesis or chorionic villi sampling on pregnant women can detect CF in the fetus.

• Cystic Fibrosis Carrier Testing is a genetic study done on a blood sample. It is usually carried out in case a couple has a family history or already has a child with CF.