Laboratory diagnosis

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Back to EB patient guides

Information for people living with EB, their families, and caregivers

Who is this booklet for?

This booklet is for people living with EB, their families, and caregivers. It will be informative if:

  • you, your child, or a family member is clinically suspected of having EB

  • you would like to understand the process of EB laboratory diagnosis

  • you would like to know about the consequences and considerations of living with EB

  • you would like to know your options for future family planning

What is this booklet about?

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

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