Diagnosing EB
Laboratory diagnosis is crucial for identifying the (sub)type of EB and determining its underlying cause at the genetic and protein levels. This information aids in predicting the condition's severity, guiding appropriate treatment, and enabling participation in clinical trials, among other benefits. The primary methods used for diagnosing EB in the lab are genetic testing and skin sample analysis.
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01
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.
02
SKIN SAMPLE ANALYSIS
This analysis examines changes in protein expression, localisation, and presence, as well as substructural alterations (changes in skin components that can only be observed through electron microscopy examination). Immunofluorescence Mapping (IFM) examines the proteins present in the skin, and proteins associated with EB can be identified using specific chemical probes (antibodies). By comparing with normal healthy skin, this technique can reveal a deficiency or depletion in protein levels. Transmission Electron Microscopy (TEM) is employed to directly observe the structural elements of the skin, which are not visible under a typical microscope. TEM enables samples to be enlarged by up to 10 million times. While not commonly utilised in standard EB diagnosis, it can prove beneficial in resolving challenging cases.