The National Diagnostic Epidermolysis Bullosa (EB) Laboratory at Guy's Hospital
The National Diagnostic Epidermolysis Bullosa Laboratory provides skin biopsy and gene mutation analysis for patients with the inherited forms of skin fragility or blistering known as epidermolysis bullosa (EB).
For EB related cases, it is usually necessary that we receive a biopsy sample prior to undertaking mutation analysis. This enables us to identify the candidate gene to be screened. There are at least 15 genes that cause forms of EB and some of these are very large. It would be impractical to undertake molecular screening without first confirming the diagnosis of EB subtype from skin biopsy examination.
For other genodermatoses, please contact the laboratory for the list of genes for mutation analysis.
For prenatal diagnosis, it is important to contact the laboratory well in advance to check availability for these tests.
We are part of the National Specialised Commissioning Group (NSCG) service for people with EB in the UK, and have links with Great Ormond Street Hospital, Birmingham Children's Hospital and Sollihul Hospital.
The EB laboratory also undertakes diagnosis of a number of other inherited epithelial disorders, including some types of ichthyosis and certain forms of ectodermal dysplasia.
Prenatal diagnosis is provided for severe forms of EB, either by electron microscopy and immunohistochemistry examination of fetal skin biopsies, or by mutation analysis from chorionic villus samples or amniocentesis. Prenatal diagnosis for other genodermatoses is sometimes performed, but individual requests should be discussed with the laboratory leads directly.
This diagnostic service developed from academic and clinical studies carried out over more than 30 years at St John's Institute of Dermatology. We continue to have close ties with the Genetic Skin Disease Group (King's College London) and undertake numerous collaborative studies, thus remaining at the forefront of genodermatoses research and EB diagnostics.
For EB cases originating within UK regions covered by the NCG service (England and Wales), the first contact should be made to the appropriate clinical centre: the EB Team at Birmingham Children’s Hospital or Solihull Hospital for children and adults in the north; the EB team at Great Ormond Street Hospital or St John’s Dermatology Centre at St Thomas’ Hospital for children and adults in the south. For referrals from Scotland, contact the Department of Dermatology at the Old Royal Infirmary of Edinburgh. For EB cases originating in Ireland or overseas, the first contact should be made directly with the EB laboratory.
More information on GSTT website