Laboratory diagnosis

Laboratory diagnosis is essential to determine the type of EB and the precise cause at the DNA and protein levels. This is important for accurate genetic counselling, prediction of disease severity, personalised medicine and ongoing treatment, and participation in clinical trials.


Topics covered in this booklet include:

  • what EB is

  • the importance of getting an accurate diagnosis when someone is suspected of having EB

  • the steps in making an accurate EB diagnosis

  • the latest EB laboratory diagnosis methods and considerations

  • the connection between analysis results and decision-making for EB patient care management

  • inheritance patterns and genetic counselling possibilities for patients and their families

  • how EB laboratory diagnosis works in practice

  • who should perform EB laboratory diagnoses and where

Doctor's Desk


Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

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