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

Genetic test Export to PDF
Full name:
Myoclonic epilepsy associated with ragged-red fibers (MERFF) (hot spot mutation - m.8344A>G)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Method technique:
Laboratory:
RIZIV code:
EQA:
  • 2018 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2017 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2020 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2023 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
07 Aug 2019 - 15:08
Changed:
22 Jan 2024 - 09:58