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Molecular diagnosis of junctional epidermolysis bullosa (COL17A1, ITGB4, ITGA6, LAMA3, LAMB3, LAMC2 genes)

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Last update: November 2016

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

Additional information

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.