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Immunofluorescence Mapping
Immunofluorescence Mapping
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- Immunofluorescence microscopy of a skin biopsy using antibodies against the dermo-epidermal junction zone, in order to determine the level at which blistering occurs.
- For this, a 10 mm spindle biopsy or 5mm punch biopsy, sent in sterile physiological saline solution or cell culture medium, is required.
- Details of how the biopsy should be taken and send, are given in our information sheet (Guidelines for taking skin biopsies for the diagnosis of epidermolysis bullosa).
Mutation analysis
Mutation analysis.pdf
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Since epidermolysis bullosa is an inherited skin disorder, the genes causing the disorder can be investigated using molecular genetic techniques, and changes within the gene sequence (mutations) can be detected. Mutation analysis is essential for prognostic predictions, for gene carrier analysis, as well as for genetic counselling and prenatal diagnosis.
For the above analyses, 10 ml EDTA blood (for small children 5-10ml is sufficient, for babies even less is sufficient, ca. 2-3 ml), is required. See information sheet (Blood samples for the molecular genetic analysis of inherited disorders).
