Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)

Genetic test Export to PDF
Full name:
Leber hereditary optic neuropathy (LHON) (hot spot mutations - p.Ala53Thr in MT-ND1; p.Arg340His in MT-ND4; p.Met64Val in MT-ND6)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
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
Method category:
Method technique:
Laboratory:
RIZIV code:
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)
Document(s):
Created:
07 Aug 2019 - 11:43
Changed:
09 Mar 2023 - 15:59
URL: