Orphanet: Diagnostic de la maladie de Charcot Marie Tooth et neuropathies de diagnostic diff�rentiel: dHMN et dHSN Panel

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Diagnosis of Charcot-Marie-Tooth disease and differential Diagnosis neuropathies: dHMN and dHSN (Panel)

  • Service de biochimie et de gntique molculaire
  • Centre de Biologie et de Recherche en Sant (CBRS)
  • CHU de Limoges - Hpital Dupuytren
  • 2 Avenue Martin Luther King
  • Director of laboratory : Pr Franck STURTZ
  • More information
  • Phone : 33 (0)5 55 05 63 41
  • Additional Phone : -
  • Fax : 33 (0)5 55 05 64 02
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (98)
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