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

  • UF de Neurogénétique Moléculaire et Cellulaire
  • Centre de génétique moléculaire et chromosomique
  • APHP.Sorbonne Université, Hôpital de la Pitié-Salpêtrière
  • 47-83 boulevard de l'Hôpital
  • 75013 PARIS
  • FRANCE
  • Director of laboratory : Dr Eric LE GUERN
  • More information
  • Phone : 33 (0)1 42 17 76 52
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
  • Contact
Last update: February 2020

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
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (52)
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.