Short Description

Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) is performed using End Point PCR methodology. Sample that have to be given is Peripheral blood in EDTA Vacutainer (2ml) for this test. You can expect results in 3-4 days

PreTest Information

Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) can be done with a Doctor’s prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad.

Detail Description

Cystic Fibrosis Mutation Screening (CFTR - Del 508, G551D/R553X, G542X) cost INR:7500 symptoms diagnosis

Cystic Fibrosis (CF) is a genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the CFTR gene, which encodes a protein that regulates the movement of salt and water in and out of cells.

Symptoms of Cystic Fibrosis

The symptoms of CF can vary from person to person, but some common signs and symptoms include:

• Persistent cough with thick mucus
• Wheezing or shortness of breath
• Frequent lung infections
• Poor growth or weight gain in children
• Frequent greasy, bulky stools or difficulty in bowel movements
• Male infertility due to absence of vas deferens

Diagnosis of Cystic Fibrosis

CF can be diagnosed through a series of tests, including:

• Sweat test - measures the amount of salt in sweat, which is elevated in people with CF
• Genetic testing - identifies mutations in the CFTR gene
• Pulmonary function tests - measures lung function
• Imaging studies - such as X-rays or CT scans, can detect lung damage

Cystic Fibrosis Mutation Screening

Cystic Fibrosis Mutation Screening is a genetic test that can identify mutations in the CFTR gene. The test can detect the most common mutations that cause CF, including Del 508, G551D/R553X, and G542X. These mutations are responsible for about 90% of CF cases.

The cost of CF Mutation Screening in India is around INR 7500. The test is usually covered by insurance if the patient meets certain criteria, such as having a family history of CF or symptoms consistent with the disease.

If a person tests positive for CF mutations, further testing is needed to confirm the diagnosis. Genetic counseling is also recommended to discuss the implications of a positive result and options for managing the disease.

Conclusion

Cystic Fibrosis is a serious genetic disorder that can cause significant health problems. Early diagnosis and treatment can improve outcomes and quality of life. CF Mutation Screening is a valuable tool for identifying people who may be at risk for CF and can help guide treatment decisions. If you have any concerns about CF, speak with your doctor about genetic testing options.

For more information on Cystic Fibrosis Mutation Screening, visit DNA Labs India's website.