1. Genetic tests
  2. Hypochondroplasia (Hotspot mutation p.(Asn540Lys))

Hypochondroplasia (Hotspot mutation p.(Asn540Lys))

Genetic test Export to PDF
Full name:
Hypochondroplasia (Hotspot mutation p.(Asn540Lys))
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Post-natal Diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
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:
  • 2020 Skeletal dysplasis GenQA (Genomics Quality Assessment)
Turnaround time (maximum):
21 days
Document(s):
Created:
07 Aug 2019 - 11:17
Changed:
23 Jan 2023 - 13:04
URL:
https://www.chuliege.be/jcms/c_525353/fr/hypochondroplasie