COL7A1 Report

COL7A1The COL7A1 report screens for genetic variants associated with epidermolysis bullosa, a group of rare inherited skin disorders characterized by blistering and skin fragility. Epidermolysis bullosa is caused by mutations in the COL7A1 gene, which provides instructions for making a protein that helps anchor the layers of the skin together. This report tests for variants in the COL7A1 gene that can affect this process.1 or more genes analyzed It is recommended if: This report is useful for individuals with a family history of epidermolysis bullosa or individuals with symptoms such as blistering and skin fragility. Early diagnosis can inform management strategies, such as wound care and prevention of complications such as infections or scarring. List of main conditions: COL7A1