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Diagnosis of congenital myopathy (Panel)

  • Laboratoire de Gntique Molculaire: maladies hrditaires et oncologie
  • Service de biochimie, biologie molculaire et toxicologie environnementale
  • CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
  • Boulevard de la Chantourne
  • 38043 GRENOBLE CEDEX 9
  • FRANCE
  • Director of laboratory : Dr Julien FAURE
  • More information
  • Phone : 33 (0)4 76 76 55 73
  • Additional Phone : -
  • Fax : 33 (0)4 76 76 56 64
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

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

List of diseases and genes

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