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Leri-Weill dyschondrosteosis / ISS

Genetic test Export to PDF
Full name:
Leri-Weill dyschondrosteosis / ISS
Description:

Petite taille liée à un déficit du gène SHOX
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Mutation confirmation,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
DNA
Method category:
Sequence analysis: entire coding region
Deletion/duplication analysis
Method technique:
Bi-directional Sanger Sequence analysis
MLPA based techniques
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565471-565482
EQA:
  • 2015 Familial SHOX-related disorders EMQN
  • 2019 Familial SHOX-related disorders EMQN
  • 2022 Familial SHOX-related disorders EMQN
Accreditation (ISO 15189):
2022-02-24 / 2026-02-23
Turnaround time (maximum):
1,5 months
Document(s):
Created:
02 Sep 2019 - 07:33
Changed:
23 Jan 2023 - 13:11
URL:
https://www.chuliege.be/jcms/c_525428/fr/syndrome-de-shox