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.
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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
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Topics covered in this booklet include:
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classification of EB with genes and causative variants
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clinical features of EB
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types of laboratory referral
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EB laboratory diagnosis flowchart
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genetic testing for EB
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immunofluorescence mapping
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electron microscopy
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reporting scenarios
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recommendations for laboratory diagnosis of EB
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how does the guideline work in practice?
