Tests and diagnosis

By Mayo Clinic Staff

Your doctor may suspect epidermolysis bullosa from the appearance of the skin. But laboratory tests are needed to confirm the diagnosis. They include:

  • Skin biopsy for immunofluorescent mapping. With this technique, a small sample of affected skin is removed and examined to identify the layer of skin and proteins involved. This precise, reliable test is less expensive than other specialized testing options, such as electron microscopy.
  • Genetic testing. Genetic testing, if it's available and affordable, is sometimes used to confirm the diagnosis because most forms of epidermolysis bullosa are inherited. A small sample of your blood will be drawn and sent to a lab for analysis.
  • Prenatal testing. Families with a history of epidermolysis bullosa may want to consider prenatal testing and genetic counseling.
Aug. 22, 2014