Cystic Fibrosis Delta F508 Gene Mutation - Book Test at Low Cost

Cystic fibrosis (CF) is an inherited genetic disorder that affects the respiratory, digestive, and reproductive systems. It is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for producing a protein that regulates the movement of salt and water in and out of cells.

The Delta F508 mutation is the most common mutation associated with CF, accounting for approximately 70% of all CF cases worldwide. It is a deletion of three nucleotides (codons) in the CFTR gene, resulting in the loss of a single amino acid (phenylalanine) at position 508 of the protein.

The Delta F508 mutation causes the CFTR protein to misfold and be degraded by the cell's quality control system, resulting in reduced levels of functional CFTR protein at the cell surface. This leads to thick, sticky mucus in the lungs, pancreas, and other organs, which can cause recurrent infections, digestive problems, and other complications associated with CF.

The Cystic Fibrosis Delta F508 Gene Mutation test is an important tool for identifying and managing CF and for providing information about carrier status and genetic risks.

Why is Cystic Fibrosis Delta F508 Gene Mutation done?

The Cystic Fibrosis Delta F508 Gene Mutation test is done to identify mutations in the CFTR gene, including the Delta F508 mutation, which is responsible for causing cystic fibrosis (CF). This test is usually performed as part of newborn screening programs, which are designed to identify babies who may have CF before they develop symptoms.

Early detection of CF can be important because it allows for early intervention and treatment, which can improve outcomes for affected individuals. In addition, identifying carriers of CF mutations can help with family planning decisions and genetic counseling.

The test can also be used for diagnostic purposes in individuals who have symptoms of CF, such as chronic lung infections, digestive problems, and poor growth. Genetic testing can confirm a diagnosis of CF and provide information about the specific mutation(s) that are present, which can be important for guiding treatment decisions and for family planning.

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Cost of Cystic Fibrosis Delta F508 Gene Mutation

The cost of Cystic Fibrosis Delta F508 Gene Mutation near me in Delhi varies from one diagnostic centre to another. It ranges between INR 7000 to 280000