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  2. Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)

Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)

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Full name:
Chronic progressive external ophthalmoplegia (CPEO) (Full sequencing of mtDNA genome)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Skin biopsy,
Liver biopsy,
Muscle biopsy,
Amniotic fluid,
Chorionic villi
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
Southern blot
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565493-565504
EQA:
  • 2018 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2019 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2017 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
Turnaround time (maximum):
6 months (10 working days for prenatal diagnosis)
Document(s):
Created:
23 Aug 2019 - 21:53
Changed:
01 Mar 2023 - 16:31
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:&&5&21&&2895&COLLECTION&4