Living with Epidermolysis Bullosa -Powered by Bens Friends

Diagnosis of EB


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A doctor may suspect epidermolysis bullosa from the appearance of the affected skin. He or she will likely have your child undergo laboratory tests to confirm the diagnosis. They may include:

Skin biopsy for immunofluorescent mapping.

With this technique, a small sample of affected skin is removed and examined with a microscope and reflected light to identify the layer or layers of skin involved. This test also identifies whether the proteins needed for skin growth are functioning.
Genetic testing. Genetic testing is sometimes used to confirm the diagnosis because most forms of epidermolysis bullosa are inherited. A small sample of blood is taken 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.