The research associated with this service is being done in the Division of Chemical Pathology, Queensland Health Pathology Service, Royal Brisbane Hospital and is headed by Sandra Klingberg.
Mutational analysis is possible in the three major categories - simplex, junctional, and dystrophic.
Each of these forms is associated with mutations in different genes. Development of PCR based methods to sequence all exons of the various genes associated with EB, to look for new mutations. Development of general screening techniques for rapid detection of mutations in new EB patients. However, mutation characterisation is only part of the picture in providing an accurate diagnosis. While the clinical presentation and family history contribute to this picture, often vital information from electron microscopy and immunofluorescence mapping from a skin biopsy is required.