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Achondroplasia (hot spot mutation - p.Gly380Arg)

Genetic test Export to PDF
Full name:
Achondroplasia (hot spot mutation - p.Gly380Arg)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid,
DNA
Method category:
Targeted variant analysis
Method technique:
Bi-directional Sanger Sequence analysis
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565390-565401
EQA:
  • 2016 Skeletal dysplasis GenQA (Genomics Quality Assessment)
  • 2020 Skeletal dysplasis GenQA (Genomics Quality Assessment)
Accreditation (ISO 15189):
2022-02-24 / 2026-02-23
Turnaround time (maximum):
21 days
Document(s):
Created:
26 Jul 2019 - 12:45
Changed:
28 Sep 2023 - 09:30
URL:
https://www.chuliege.be/jcms/c_525267/fr/achondroplasie