Molecular Testing in Epidermolysis Bullosa

Abstract

The development of DNA technology and improved knowledge of the structure and function of the human genome have led to the identification of the causative genes responsible for the different forms of epidermolysis bullosa (EB) and provided the opportunity to determine the precise location and type of mutations present in EB patients, allowing diagnosis of this disease at the level of the defective gene itself. The large genetic heterogeneity of EB, however, precludes the direct use of molecular testing for EB diagnosis. In addition, only a few diagnostic or research laboratories in the world are equipped to perform mutational screening, which is still labor intensive and associated with considerable costs, because most mutations are unique to one or a few families. This article reviews the most popular methods used in EB molecular analysis.