Orphanet: Diagnostik des Charcot Marie Tooth Syndroms NGS Screening Panel, 27 Gene
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Diagnosis of Charcot-Marie-Tooth disease (NGS screening panel, 27 genes)

  • Institut für Humangenetik
  • Universität Würzburg - Biozentrum
  • Am Hubland
  • 97074 WÜRZBURG
  • GERMANY
  • Director of laboratory : Dr Simone ROST
  • More information
  • Phone : 49 (0)931 318 4070
  • Additional Phone : -
  • Fax : 49 (0)931 318 4434
  • Website
  • Contact
Last update: January 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

List of diseases tested (50)

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

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