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Diagnosis of myopathies (NGS screening panel: 60 genes)

  • Institut für Humangenetik
  • Universitätsklinikum Aachen
  • Pauwelsstr. 30
  • 52074 AACHEN
  • Director of laboratory : Pr Ingo KURTH
  • More information
  • Phone : 49 (0)241 80 80178
  • Additional Phone : -
  • Fax : 49 (0)241 80 82580
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test


Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
NGS sequencing (except WES)
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (70)
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