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Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome

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Full name:
Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Skin biopsy,
Liver biopsy,
Muscle biopsy
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565493-565504
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
Document(s):
Created:
26 Aug 2019 - 17:36
Changed:
09 Mar 2023 - 16:08
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:&&5&21&&1106&ANALYSIS&4