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Diagnosis of myofibrillar myopathy (Panel)

  • UF de cardiogénétique et myogénétique moléculaire et cellulaire
  • Centre de génétique moléculaire et chromosomique
  • CHU Paris-GH La Pitié Salpêtrière-Charles Foix - Hôpital Pitié-Salpêtrière
  • 47-83 boulevard de l'Hôpital
  • 75013 PARIS
  • FRANCE
  • Director of laboratory : Dr Pascale A RICHARD
  • More information
  • Phone : 33 (0)1 42 17 76 47/ 76 64
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
Last update: February 2018

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Mutation scanning/screening and sequence analysis of selected exons
NGS sequencing (except WES)
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