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Getting Diagnosed

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Laboratory diagnosis is essential to determine the (sub)type of EB and the precise cause for it at the genetic and protein levels. This helps to predict the severity of the condition, provide the appropriate care, and participate in clinical trials among others. There are two main methods used in EB laboratory diagnosis: genetic testing and skin sample analysis.

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Genetic Testing

To perform genetic testing, blood samples are taken from the person with EB and their parents. The samples are used for the extraction of genomic DNA, which contains all the information on our individual genetic make-up. Each gene carries a unique sequence code that has a specific function as a protein. A disease-causing variant in EB-associated genes can be detected by Sanger sequencing (SS) of a specific gene or by next generation sequencing (NGS), which can analyse ALL the EB genes at once.

Skin Sample Analysis

This analysis looks at changes in protein expression, localisation, and ultrastructural modifications (changes in skin components that can only be seen by electron microscopy). Immunofluorescence Mapping (IFM) examines the proteins in the skin. EB-associated proteins can be recognised by specific (antibodies) reagents. When compared to a normal skin sample, this technique can show an absent or reduced protein amount. Transmission Electron Microscopy (TEM) is used to directly examine the structural components of the skin, which cannot be seen with a conventional microscope. TEM allows samples to be magnified by as much as 10 million times. It is rarely used in standard EB diagnosis but it can be useful in solving difficult cases.

Laboratory Diagnosis (Patient Guide)

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

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Information and resources on EB are provided by DEBRA International

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