The COL7A1 panel 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 panel tests for variants in the COL7A1 gene that can affect this process.
This panel 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.
The analysis takes into consideration the mutation of germline DNA, it investigates SNP and Indel mutations up to 150 bp.
- Available in less than 24 hours
- Based on Whole Genome Sequencing
- 1 or more genes analyzed
- Investigates SNP and Indel mutations up to 150 bp
List of main conditions:
This product is only meant for customers who already purchased a MyGenome Test