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Molecular diagnosis of Myotonic Dystrophy type 1 and 2 (DMPK and CNBP gene)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 29/12/2015
  • Sectie Genoomdiagnostiek / Genome Diagnostics Nijmegen
  • Afdeling Genetica
  • Radboudumc - Radboud universitair medisch centrum
  • Geert Grooteplein-Zuid 10
  • 6525 GA NIJMEGEN
  • NETHERLANDS
  • Director of laboratory : Dr H.G. [Helger] IJNTEMA
  • More information
  • Phone : +31 (0)24 361 3799
  • Additional Phone : -
  • Fax : +31 (0)24 361 6658
  • Website
  • Contact
Last update: December 2015

Responsible of diagnostic test

Purpose(s)

Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
Sanger sequencing

List of diseases and genes

List of diseases tested (1)
List of genes tested (including panels) (2)

Additional information

Quality management

EQA
 EQA

EQA scheme(s) organized by UKNEQAS

Myotonic dystrophy
2015, 2016, 2017
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.