Orphanet: Diagnostic de la myotonie congénitale de Thomsen et Becker gène CLCN1
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Diagnosis of Thomsen and Becker disease (CLCN1 gene)

  • UF de cardiogntique et myogntique molculaire et cellulaire
  • Centre de gntique molculaire et chromosomique
  • CHU Paris-GH La Piti Salptrire-Charles Foix - Hpital Piti-Salptrire
  • 47-83 boulevard de l'Hpital
  • 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 2019

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
Targeted mutation analysis
Sanger sequencing
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (1)
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.