1. Genetic tests
  2. Steinert myotonic dystrophy - DMPK gene CTG repeat expansion

Steinert myotonic dystrophy - DMPK gene CTG repeat expansion

Genetic test Export to PDF
Full name:
Steinert myotonic dystrophy - DMPK gene CTG repeat expansion
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Predictive and Pre-symptomatic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
Cell culture
Method category:
Targeted variant analysis
Method technique:
PCR based technique
Southern blot
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565456-565460
EQA:
  • 2015 Myotonic Dystrophy EMQN
  • 2016 Myotonic Dystrophy EMQN
  • 2017 Myotonic Dystrophy EMQN
  • 2018 Myotonic Dystrophy EMQN
  • 2019 Myotonic Dystrophy EMQN
  • 2020 Myotonic Dystrophy EMQN
  • 2021 Myotonic Dystrophy EMQN
Accreditation (ISO 15189):
2021-10-07 / 2026-06-14
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Document(s):
Created:
31 Jul 2019 - 13:59
Changed:
09 Mar 2023 - 16:31
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:ziekte%20van%20Steinert&&&&&1…