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Diagnosis of mitochondrial disease by mutation of nuclear genes (panel)

  • Unit fonctionnelle d'histologie molculaire
  • Service de Pathologie
  • CHU de Bordeaux-GH Pellegrin
  • Place Amlie Raba-Lon
  • 33076 BORDEAUX CEDEX
  • FRANCE
  • Director of laboratory : Pr Batrice VERGIER
  • More information
  • Phone : 33 (0)5 56 79 56 02
  • Additional Phone : -
  • Fax : 33 (0)5 56 79 60 88
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
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