It is part of the National Commissioning Group (NCG) service for EB patients in the UK and is linked to clinical services at St John's and at Great Ormond Street Hospital, as well as to paediatric and adult services in Birmingham.
The EB Lab also undertakes the diagnosis of several other inherited skin fragility disorders. These include Kindler syndrome, 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. Prenatal diagnosis for other genodermatoses is sometimes performed, but individual requests should be discussed with the Head of Laboratory.
