1. Genetic tests
  2. Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)

Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)

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Full name:
Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
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:
Bi-directional Sanger Sequence analysis
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
  • 2020 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
  • 2023 Mitochondrial DNA (mtDNA) Metabolic Disorders EMQN
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
06 Aug 2019 - 13:11
Changed:
22 Jan 2024 - 09:57