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
  • AUSTRIA
  • 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

Purpose(s)

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
 EQA

EQA scheme(s) organized by EMQN

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