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Diagnosis of mitochondrial disease (exhaustive study of mtDNA by NGS and Surveyor technics)

  • Laboratoire de Gntique, Hmatologie et Immunologie
  • Service de Gntique , hmatologie et Immunologie
  • CHU de Reims - Hpital Maison Blanche
  • 45 rue Cognacq-Jay
  • 51092 REIMS CEDEX
  • FRANCE
  • Director of laboratory : Pr Anne-Sophie LEBRE
  • More information
  • Phone : 33 (0)3 26 78 85 82
  • Additional Phone : -
  • Fax : 33 (0)3 26 78 41 45
  • Website
Last update: February 2018

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

List of diseases and genes

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.