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).
EB is a clinically diverse group of conditions and the laboratory performs detailed analysis of more than 15 disease-associated proteins and genes.
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 skin 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 directly.
This diagnostic service has 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 collaborative studies, thus remaining at the forefront of research.
Before sending a sample, it is essential to contact the EB laboratory.
For prenatal diagnosis, it is important to contact the lab well in advance to check availability for these tests.
For diagnostic skin biopsies, instructions regarding suitable specimens will be sent out, together with specialised fixative and transport solutions.
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 confirming diagnosis of the EB subtype from skin biopsy examination.
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. Contact details are given in a following section.
For EB cases originating in Ireland or overseas, the first contact should be made directly with the EB lab.
Where to send your referral
Please send your referral to the address at the top of this webpage, along with a completed request form (Word 336Kb).
For referrals to the NCG EB service in the north of England
Paediatric: Birmingham Children’s Hospital
- Tel: 0121 333 8224
- Email: firstname.lastname@example.org
- Prof C Moss, Consultant Dermatologist - tel: 0121 333 8226
Adult: Solihull Hospital
- Dr A. Heagarty, Consultant Dermatologist -tel: 0121 424 4563
For referrals to the NCG service in the south of England and Wales
Paediatric: 020 7829 7808 (Monday - Friday, 9am - 5pm)
Adult: via EB secretary 020 7188 6399 (Wednesday - Friday, 9am - 5pm)
or direct to consultant dermatologist:
- Dr J Mellerio 020 7188 6399 (Wednesday - Friday, 9am - 5pm)
- Prof J McGrath 020 7188 6409 (Monday - Friday, 9am - 5pm)
For referrals in Scotland
Contact the department of dermatology at the Old Royal Infirmary of Edinburgh.
- Dr M. Tidman 0131 536 2057
- Dr O. Schofield 0131 536 2414
- Dr. H. Horn 0131 536 2414
Cases covered by the NSCG service for EB are funded directly by the Department of Health and no charge is made to the referring NHS trust – this includes prenatal diagnosis.
There is a special NHS agreement for Scotland and Ireland. A charge is made for all other cases, including private patients. Please contact the EB lab for details.
- Trish Dopping-Hepenstal - head of EB laboratory
- Lu Liu - clinical scientist
- Linda Ozoemena - senior biomedical scientist
- James McMillan - clinical scientist
- Amardeep Kalsi - medical laboratory assistant