1. Genetic tests
  2. Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier)

Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier)

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Full name:
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G) (1st tier)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Skin biopsy,
Liver biopsy,
Muscle biopsy,
Amniotic fluid,
Chorionic villi,
Cell culture,
Skin fibroblasts
Method category:
Targeted variant analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565390-565401
EQA:
  • 2015 Mitochondrial disorders (including POLG) GenQA (Genomics Quality Assessment)
  • 2016 Mitochondrial disorders (including POLG) GenQA (Genomics Quality Assessment)
  • 2017 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2018 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2019 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2020 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2021 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2022 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
Accreditation (ISO 15189):
2021-10-07 / 2026-06-14
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Created:
07 Aug 2019 - 15:08
Changed:
09 Mar 2023 - 16:17
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:MERF