Orphanet: Diagnostic de la maladie de Charcot Marie Tooth Panel
x

Search for a diagnostic test

* (*) mandatory field

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
  • FRANCE
  • 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

Purpose(s)

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
 EQA

EQA scheme(s) organized by EMQN

CMT (Charcot-Marie-Tooth disease)
2014
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.