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Diagnosis of myopathies associated with a rigid spine syndrome (SEPN1 gene)

  • UF de cardiogénétique et myogénétique moléculaire et cellulaire
  • Centre de génétique moléculaire et chromosomique
  • APHP.Sorbonne Université, Hôpital de la 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 64
  • Additional Phone : -
  • Fax : 33 (0)1 42 17 76 18
  • Website
  • Contact
Last update: February 2020

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes

List of diseases tested (4)
Congenital fiber-type disproportion myopathy
Desmin-related myopathy with Mallory body-like inclusions
Multiminicore myopathy
Rigid spine syndrome
List of genes tested (including panels) (1)
SELENON
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