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Molecular diagnosis of dominant dystrophic epidermolysis bullosa (COL7A1 gene)

  • Zespol Pracowni Genetyki Molekularnej
  • Zaklad Gentyki Medycznej
  • Instytut Matki i Dziecka
  • Kasprzaka 17a
  • 01-211 WARSZAWA
  • POLAND
  • Director of laboratory : Pr Jerzy BAL
  • More information
  • Phone : 48 22 32 77 361
  • Additional Phone : 48 22 32 77 152
  • Fax : 48 22 32 77 361
  • Website
  • Contact
Last update: October 2017

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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.