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Epidermolysis Bullosa Panel

Epidermolysis Bullosa Panel

Prix habituel €29.00 EUR
Prix habituel Prix soldé €29.00 EUR
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This product is only meant for customers who already purchased a MyGenome Test

Epidermolysis Bullosa panel is used to identify genetic variants associated with epidermolysis bullosa (EB), a group of rare genetic disorders characterized by skin fragility and blistering. EB is caused by mutations in genes encoding proteins involved in maintaining the structure and integrity of the skin. This panel tests for variants in these genes, which can help diagnose the specific subtype of EB and inform treatment and management decisions.
This panel is recommended for individuals with a family history of EB or individuals with symptoms such as blistering or skin erosions. Early diagnosis and proper management can improve quality of life and prevent complications such as infection and scarring. Genetic testing can also inform family planning decisions and provide reassurance for unaffected family members.

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
  • More than 50 genes analyzed
  • Investigates SNP and Indel mutations up to 150 bp

List of main conditions:
  • Epidermolysis Bullosa
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Ce produit est uniquement destiné aux clients qui ont déjà acheté un test MyGenome.