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Diagnosis of proximal myotonic myopathy (CNBP gene)

  • Servicio de Laboratorio
  • Servicio de Medicina Gentica y Molecular
  • Hospital Sant Joan de Du Barcelona
  • Paseo de Sant Joan de Du, 2
  • 08950 ESPLUGUES DE LLOBREGAT
  • SPAIN
  • Director of laboratory : Dr Bonaventura RUIZ MONTASELL
  • More information
  • Phone : 34 93 253 21 00
  • Additional Phone : -
  • Fax : -
  • Website
Last update: July 2018

Responsible of diagnostic test

Purpose(s)

Antenatal diagnosis
Post-natal diagnosis
Pre-symptomatic diagnosis

Technical procedure(s)

Molecular genetics
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)
2019
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