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Blood samples for the molecular genetic analysis
Mutation analysis.pdf
(87KB)
For the analysis we require 10ml EDTA blood (please not in heparin- or citrate) per person. For small children 5-10ml is sufficient, for babies even less is sufficient (ca. 2-3 ml).
Please mix the blood samples after the blood has been taken and send via post to the the address below. The samples do not need to be cooled or frozen. When packing please take care with the labelling and protection of the tubes.
Clinical information and pictures of the patients, as well as a family pedigree, will aid the investigation and assessment of the patient.
Skin biopsy for immunofluorescence mapping
Immunofluorescence Mapping
(53KB)
Download
When taking a skin biopsy for the diagnosis of epidermolysis bullosa or kindler syndrome, the following points should be noted:
Position of the biopsy: |
Please take the biopsy at the edge of a blister (not older than 12 hours), most part of the sample should be unaffected skin. If there is no new blister, rub unaffected skin with a sterile rubber glove to induce a blister before the biopsy. |
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Type of skin sample: |
A small spindle biopsy (approximately 10 mm long) or a 5 mm punch biopsy. |
Sampling technique: |
Beware of mechanical stress, the skin of a patient with EB can be very fragile! When bandageing, do not use plaster, use only a circular bandage, e.g. a gauze bandage |
Transport solution: |
The skin sample should be sent to us in sterile physiological saline solution or cell culture medium. We require a fresh, untreated skin sample. Please do not fix the sample, do not use formalin, do not freeze! |
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Please do not fix the sample, do not use formalin, do not freeze! |
