Orphanet: Diagnostic de la maladie de Charcot Marie Tooth autosomique dominante type 2 g�ne MFN2
x

Search for a diagnostic test

* (*) mandatory field

Diagnosis of autosomal dominant Charcot-Marie-Tooth disease type 2 (MFN2 gene)

  • Service Toxicologie et Gnopathies - UF "Gnopathies"
  • Institut de Biochimie et Biologie Molculaire
  • CHU de Lille - Centre de Biologie Pathologie Gntique
  • Boulevard du Pr Jules Leclercq
  • 59037 LILLE CEDEX
  • FRANCE
  • Director of laboratory : Pr Franck BROLY
  • More information
  • Phone : 33 (0)3 20 44 48 01
  • Additional Phone : -
  • Fax : 33 (0)3 20 44 49 57
  • Website
Last update: February 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Mutation scanning/screening and sequence analysis of selected exons
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of genes tested (including panels) (1)
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.