What tests are used to diagnose epidermolysis bullosa?
In some cases, EB can be presumed based on symptoms and family history. In many cases, a skin biopsy is taken for testing. Genetic testing is an additional option.
How do doctors at Children’s Hospital Colorado make a diagnosis?
If one of our doctors suspects that your child has EB, there are a number of things they might do to confirm the diagnosis, including:
- Skin biopsy- a small piece of the skin is removed and examined with special microscopic tests to determine where the skin is separating.
- DNA analysis- a small sample of blood is obtained and sent to a laboratory for DNA sequencing to explain mutations related to the proteins in the skin. This method can determine the type of EB and the pattern of inheritance, and might be useful for future family-planning