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  2. Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)

Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)

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Full name:
Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome (hot spot mutation - m.8993T>C/G)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Targeted variant analysis
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565390-565401
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:
08 Aug 2019 - 09:54
Changed:
22 Jan 2024 - 09:59