Orphanet: Diagnosi molecolare della malattia di Charcot Marie Tooth tipo 1, 2A2, 2B1 geni EGR2, MPZ, PMP22, LMNA, MFN2

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Molecular diagnosis of Charcot-Marie-Tooth disease (type 1, 2A2, 2B1) (EGR2, MPZ, PMP22, LMNA, MFN2 genes)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 07/09/2011
  • Laboratorio di Biologia Molecolare Clinica e Citogenetica
  • Diagnostica e Ricerca San Raffaele S.p.A.
  • IRCCS Ospedale San Raffaele
  • Via Olgettina 60
  • 20132 MILANO
  • Director of laboratory : Pr Maurizio FERRARI
  • More information
  • Phone : 39 02 26432130
  • Additional Phone : 39 02 26434759
  • Fax : 39 02 26434351
  • Website
Last update: September 2011

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics

List of diseases and genes

List of genes tested (including panels) (5)
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