1. Genetic tests
  2. Leigh / NARP Syndrome

Leigh / NARP Syndrome

Genetic test Export to PDF
Full name:
Leigh / NARP Syndrome
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Mutation confirmation,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Skin biopsy,
Liver biopsy,
Muscle biopsy
Method category:
Sequence analysis: entire coding region
Mutation screening and sequence analysis of selected exons
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
Turnaround time (maximum):
6 months
Document(s):
Created:
26 Aug 2019 - 11:36
Changed:
09 Mar 2023 - 16:00
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Leigh&&&&&2897&COLLECTION&0
  • Leigh syndrome (mtDNA / 37 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    MT-ND1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND4L 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND4 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND5 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ND6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CO1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CO2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CO3 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ATP8 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-ATP6 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-CYB 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TF 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TQ 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TW 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TL1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TH 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TS1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TS2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TP 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TK 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TT 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TL2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TV 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TE 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TI 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TM 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TN 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TA 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TC 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TG 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TR 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TY 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-TD 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-RNR1 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations
    MT-RNR2 0.00 0 No known value for % of coding sequence sufficiently covered to detect heterozygous mutations