DNA Mutation Analysis

Molecular genetic studies (DNA analysis) may be done after the subtype of EB has been confirmed by skin biopsy. Molecular studies are done to identify the specific genetic mutation and to determine the mode of inheritance (recessive vs. dominant). This information is helpful for family planning and makes prenatal diagnosis of subsequent pregnancies possible. DNA analysis for all subtypes of EB is available through:

GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
301-519-2100
www.genedx.com