Short Description

Cystic fibrosis (CF), also known as mucoviscidosis, is a genetic disorder that affects mostly the lungs but also the pancreas, liver, kidneys, and intestine. CF is caused by a mutation in the gene cystic fibrosis transmembrane conductance regulator (CFTR). This test detects the most common mutation, ??F508 which is a deletion of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein. This mutation accounts for two-thirds of CF cases worldwide and 90% of cases in the United States.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

Understanding Cystic Fibrosis Mutation Detection Test: Symptoms, Diagnosis, and Cost

Cystic Fibrosis (CF) is a genetic disease that affects the respiratory, digestive, and reproductive systems. It is caused by a mutation in the CFTR gene that produces a protein responsible for regulating the flow of salt and fluids in the body. CF affects approximately 1 in every 3500 births and is most common in people of European descent. Early detection and treatment are crucial to managing the disease, which is why DNA Labs India offers the Cystic Fibrosis Mutation Detection Test.

Symptoms of Cystic Fibrosis

The symptoms of CF can vary depending on the severity of the disease and the age of the patient. Some common symptoms include:

• Persistent cough with thick mucus
• Frequent lung infections
• Shortness of breath
• Poor growth and weight gain
• Male infertility
• Greasy, bulky stools
• Abdominal pain and bloating

If you or your child is experiencing any of these symptoms, it is important to speak with a healthcare provider right away. Early diagnosis and treatment can improve quality of life and increase life expectancy for those with CF.

Diagnosis of Cystic Fibrosis

There are several tests that can be done to diagnose CF, including:

• Sweat Test: measures the amount of salt in sweat, which is typically higher in people with CF
• Genetic Testing: detects mutations in the CFTR gene
• Lung Function Tests: measures how well the lungs are working
• Imaging Tests: X-rays or CT scans can show lung damage and other complications of CF

The Cystic Fibrosis Mutation Detection Test offered by DNA Labs India is a genetic test that detects mutations in the CFTR gene. This test can be done at any age and is particularly useful for family members of someone with CF who may be carriers of the mutation.

Cost of Cystic Fibrosis Mutation Detection Test

The cost of the Cystic Fibrosis Mutation Detection Test at DNA Labs India is INR 12,000. This is a small price to pay for the peace of mind that comes with knowing whether or not you or your child is at risk for CF. It is important to note that this test may not be covered by insurance, so it is best to check with your provider before scheduling the test.

Conclusion

Cystic Fibrosis is a serious genetic disease that affects many different parts of the body. Early detection and treatment are key to managing the disease and improving quality of life. If you or a loved one is experiencing symptoms of CF or is at risk for the disease, speak with a healthcare provider about genetic testing. The Cystic Fibrosis Mutation Detection Test offered by DNA Labs India is a reliable and affordable way to determine whether or not you carry the CFTR gene mutation.

Don't wait until it's too late. Schedule your Cystic Fibrosis Mutation Detection Test today.