Laboratory diagnosis is essential to determine the type and subtype of EB and the precise cause at the DNA and protein levels.

This information is important for someone with EB and their immediate family for: 

  • Accurate genetic counseling 
  • Prediction of disease severity 
  • Informed decision making 
  • Appropriate global patient care 
  • Prenatal diagnosis 
  • Benefit of specialized care and wound dressings 
  • Personalized medicine 
  • Participation in clinical trials 
  • Ongoing treatment 

Please see the guides below for information on laboratory diagnosis in EB. 

Laboratory Diagnosis Patient Guide


Laboratory Diagnosis Clinical Practice Guidelines