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Laboratory diagnosis

Guideline objectives: provide information on laboratory diagnosis of inherited EB to allow early prognostication of disease severity, decision-making for patient management, informed genetic counselling, long-term surveillance and management of possible complications, inclusion in clinical trials, and precision medicine.

Target users: dermatologists, neonatologists, paediatricians, geneticists and genetic counsellors, laboratory doctors and technicians, nurses, and people living with (suspected) EB and their families.

Clinical practice guidelines for laboratory diagnosis in epidermolysis bullosa
Published 2019 | Funded by DEBRA Austria

Topics covered in this booklet include:

  • classification of EB with genes and causative variants

  • clinical features of EB

  • types of laboratory referral

  • EB laboratory diagnosis flowchart

  • genetic testing for EB

  • immunofluorescence mapping

  • electron microscopy

  • reporting scenarios

  • recommendations for laboratory diagnosis of EB

  • how does the guideline work in practice?


Laboratory diagnosis patient guide

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