It is part of the National Specialised Commissioning Group (NCG) service for EB patients in the UK and is linked to clinical services at St John's Institute of Dermatology and at Great Ormond Street Hospital, as well as to paediatric and adult dermatology services in Birmingham.
EB is a heterogeneous group of conditions and the laboratory performs detailed analysis of more than 15 disease-associated proteins and genes. The EB Lab also undertakes the 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 specimens or amniocentesis. Prenatal diagnosis for other genodermatoses is sometimes performed, but individual requests should be discussed with the EB Laboratory.
For further information see: http://guysandstthomas.nhs.uk/our-services/dermatology/laboratories/eb-laboratory.aspx
