Molecular diagnosis of dystrophic epidermolysis bullosa (c.425A>G in COL7A1)

Epidermolysis bullosa is the collective term for approximately 30 different diseases characterised by a hereditary propensity to develop blisters on the skin and, in some cases, the mucous membranes. The term epidermolysis describes the shedding of the epidermis and bullosa refers to the formation of blisters. Epidermolysis bullosa can be divided into three types depending on the layer of skin in which the blisters form, the degree of severity, and whether there is a propensity for scar tissue to form. There are epidermolysis bullosa simplex, junctional and dystrophic epidermolysis bullosa.

Laboratory for molecular biomedicine uses sequencing to detect mutations in the third exon of COL7A1. Mutation c.425А>G, which is one of the most frequent ones detected in European populations and is associated with dystrophic epidermolysis bullosa, is located in the third exon of COL7A1 gene.

Alternatively, the simultaneous analysis of all genes responsible for epidermolysis bullosa (COL17A1, COL7A1, DSP, DST, FERMT1 (KIND1), ITGA6, ITGB4, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC1) could be applied to speed up the diagnostic process (http://imgge.bg.ac.rs/index.php/en/services?layout=edit&id=1193).

It is necessary to deliver 2.5 ml of peripheral blood using 3.8% sodium citrate as anticoagulant. It is possible to deliver a blood sample that has already been frozen. The samples are accepted every day from 10 to 13h. There is possibility to deliver the sample via post express service. The analysis is performed within 10 working days. The results and the bill are sent to the patient's home address, or can be collected personally at the Institute from 10 to 16h every day.

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CONTACT:

dr Maja Stojiljković

dr Sonja Pavlović

Tel: +381 11 3976 445

Mob: +381 65 3976 445

Fax: +381 11 3975 808

e-mail: zmzg@sezampro.rs

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