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Diagnosis of mitochondrial oxidative phosphorylation disorders due to nuclear DNA anomalies (Panel)

  • Service de biochimie
  • Ple Biologie, Pharmacie et Hygine
  • CHU de Caen - Hpital de la Cte de Nacre
  • Avenue de la Cte de Nacre
  • 14033 CAEN CEDEX 9
  • FRANCE
  • Director of laboratory : Pr Stphane ALLOUCHE
  • More information
  • Phone : 33 (0)2 31 06 45 61
  • Additional Phone : 33 (0)2 31 06 48 72
  • Fax : 33 (0)2 31 06 51 72
  • 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
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (59)
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