Orphanet: Diagn�stico de la enfermedad de Charcot Marie Toothneuropat�a sensitivo motora hereditaria panel
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Diagnosis of Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (panel)

  • Phone : 34 985 10 61 00 ext 37482
  • Additional Phone : -
  • Fax : 34 985 27 36 57
  • Website
Last update: March 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)
Deletion / Duplication analysis
MLPA based techniques

List of diseases and genes

List of diseases tested (69)

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

CMT/HNPP (Charcot-Marie-Tooth disease / Hereditary Neuropathy with Pressure Palsies)
2017, 2018, 2019
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