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  2. Leri-Weill dyschondrosteosis / SHOX-related short stature

Leri-Weill dyschondrosteosis / SHOX-related short stature

Genetic test Export to PDF
Full name:
Leri-Weill dyschondrosteosis / SHOX-related short stature
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
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-Institut de Pathologie et de Génétique (IPG)
RIZIV code:
565471-565482
EQA:
  • 2016 Familial SHOX-related disorders EMQN
  • 2019 Familial SHOX-related disorders EMQN
  • 2020 Familial SHOX-related disorders EMQN
  • 2022 Familial SHOX-related disorders EMQN
Accreditation (ISO 15189):
2022-10-07 / 2027-10-06
Turnaround time (maximum):
20 - 60 days
Document(s):
Created:
30 Jul 2019 - 13:26
Changed:
24 Jan 2023 - 11:31