Orphanet: Diagnostik der Charcot Marie Tooth Krankheit DNM2, GDAP1, GJB1, LMNA, MFN2 und PMP22 Gen

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Diagnosis of Charcot-Marie-Tooth disease (DNM2, GDAP1, GJB1, LMNA, MFN2, and PMP22 genes)

  • Neuromuskulńres Forschungszentrum
  • Zentrum fŘr Anatomie und Zellbiologie
  • Medizinische Universitńt Wien
  • 1090 WIEN
  • Director of laboratory : Pr Reginald BITTNER
  • More information
  • Phone : +43 (0)1 40160 37508
  • Additional Phone : -
  • Fax : +43 (0)1 40160 937500
  • Website
  • Contact
Last update: January 2018

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

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

Quality management


EQA scheme(s) organized by EMQN

CMT (Charcot-Marie-Tooth disease)
2014, 2015, 2016, 2018, 2019
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