Orphanet: Diagnostic de la maladie de Charcot Marie Tooth Panel

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Diagnosis of Charcot-Marie-Tooth disease (Panel)

  • Laboratoire de génétique moléculaire
  • Département de génétique médicale
  • CHU de Marseille - Hôpital de la Timone
  • 19-21 Boulevard Jean Moulin
  • 13005 MARSEILLE
  • Director of laboratory : Dr Martin KRAHN
  • More information
  • Phone : 33 (0)4 91 38 77 87
  • Additional Phone : -
  • Fax : 33 (0)4 91 38 46 73
  • Website
Last update: February 2019

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (69)

Quality management


EQA scheme(s) organized by EMQN

CMT (Charcot-Marie-Tooth disease)
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