Orphanet: Diagnostic de la maladie de Steinert g�ne DMPK
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Diagnosis of Steinert myotonic dystrophy (DMPK gene)

  • Service Toxicologie et Gnopathies - UF
  • Institut de Biochimie et Biologie Molculaire
  • CHU de Lille - Centre de Biologie Pathologie Gntique
  • Boulevard du Pr Jules Leclercq
  • 59037 LILLE CEDEX
  • FRANCE
  • Director of laboratory : Pr Franck BROLY
  • More information
  • Phone : 33 (0)3 20 44 48 01
  • Additional Phone : -
  • Fax : 33 (0)3 20 44 49 57
  • Website
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
MLPA based techniques
Targeted mutation analysis
PCR based techniques

List of diseases and genes

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

Quality management

EQA
 EQA

EQA scheme(s) organized by EMQN

DM (Myotonic dystrophy)
2016
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