CFTR Gene Mutation Test and Its Cost

The CFTR gene is responsible for producing a protein that regulates the movement of salt and water in and out of cells in the body, including those in the lungs, pancreas, and digestive system. Mutations in the CFTR gene can result in cystic fibrosis (CF), a genetic disorder that affects multiple organ systems.

Many different mutations can occur in the CFTR gene, and the severity of the resulting disease can vary depending on the specific mutation. Some mutations may result in mild symptoms or even be asymptomatic, while others can lead to severe lung disease, digestive problems, and other complications.

Why is CFTR Gene Mutation Done?

The doctor recommends CFTR Gene Mutation to decide the effective treatment for Cystic fibrosis to manage its symptoms and prevent its complications.

If you have symptoms of CF such as:

• A persistent cough 
• Wheezing
• Exercise intolerance
• Repeated lung infections
• Inflamed nasal passages
• Stuffy nose
• Recurrent sinusitis 
• Foul smelling greasy stool
• Poor weight gain
• Blockage in intestine

Sample Type Required

To determine if someone has a mutation in the CFTR gene, a sample of their DNA is typically required. This sample can be obtained through a variety of methods, including:

Blood sample : A healthcare provider can collect a small sample of blood from a vein in the arm. The blood sample is sent to a laboratory for analysis.

Saliva sample : Some genetic testing companies offer saliva-based tests that can be done at home. The person being tested spits into a collection tube and sends the sample to the company for analysis.

Buccal swab : A healthcare provider can use a cotton swab to collect a sample of cells from the inside of the cheek.

Regardless of the method used to collect the sample, the DNA is extracted and analyzed for mutations in the CFTR gene.

Cost of CFTR Gene Mutation

The cost of CFTR Gene Mutation near me in Delhi ranges from INR 5,000 to INR 22,000.