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  2. Charcot-Marie-Tooth (CMT1A, GJB1)

Charcot-Marie-Tooth (CMT1A, GJB1)

Genetic test Export to PDF
Full name:
Charcot-Marie-Tooth (CMT1A, GJB1)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Mutation confirmation,
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Next Generation Sequencing (NGS)
MLPA based techniques
Laboratory:
Centre de Génétique Humaine - Erasme ULB
RIZIV code:
565456-565460
EQA:
  • 2017 Charcot-Marie-Tooth disease EMQN
  • 2020 Charcot-Marie-Tooth disease EMQN
  • 2021 Charcot-Marie-Tooth disease/HNPP GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2021-03-25 / 2024-09-09
Turnaround time (maximum):
3 months
Document(s):
Created:
13 Dec 2019 - 11:11
Changed:
19 Jan 2024 - 09:09
URL:
https://ulbgenetics.be/compendium-des-analyses/#GM19