Epidermolysis bullosa simplex (EBS) accounts for the largest proportion of people affected by EB. There is currently no effective treatment or cure for EBS or any of the other keratin disorders. However, now that the causative genes are known in many of these genetic disorders, mutation analysis in the families can be performed and is an important service to offer to patients for the following three reasons. Firstly, it confirms the clinical diagnosis at the molecular level and allows firm conclusions to be made about the risks of passing the disorder on to future generations, enabling important decisions to be made after genetic counselling. Secondly, it opens up the possibility of DNA-based prenatal testing for the more severe disorders, such as Dowling-Meara EBS. This offers people affected with these conditions the opportunity to have unaffected children. Thirdly, on a family-to-family basis, it is important to know which gene is involved and what the specific mutation is within that gene. This helps clinicians and scientists to make conclusive correlations between the precise genetic defect and the symptoms experienced by the patient so that one can better predict the clinical outcome of future babies born with specific mutations and therefore instigate appropriate patient care at an early stage. Also, it helps in the design of gene therapy to target specific genes and/or specific mutant genes. Therefore, mutation analysis is important and should be freely available to any family with EBS or similar keratin disorder who wants it.