Orphanet: Diagnostic de la maladie de Charcot Marie Tooth Panel
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Diagnosis of Charcot-Marie-Tooth disease (Panel)

  • UF de Biologie Moléculaire
  • Département de Biochimie et Génétique
  • CHU d'Angers
  • 4 rue Larrey
  • 49933 ANGERS CEDEX 9
  • FRANCE
  • Director of laboratory : Pr Vincent PROCACCIO
  • More information
  • Phone : 33 (0)2 41 35 38 69
  • Additional Phone : -
  • Fax : 33 (0)2 41 35 58 83
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Targeted mutation analysis
MLPA based techniques
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques
Deletion / Duplication analysis
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (133)

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.