1. Genetic tests
  2. Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes)

Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes)

Genetic test Export to PDF
Full name:
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (SMN1 & SMN2 genes)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Pre-implantation genetic diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi,
Cell culture
Method category:
Deletion/duplication analysis
Method technique:
MLPA based techniques
Laboratory:
Centrum Medische Genetica - UZ Brussel VUB
RIZIV code:
565456-565460
EQA:
  • 2015 Spinal Muscular Atrophy EMQN
  • 2016 Spinal Muscular Atrophy EMQN
  • 2017 Spinal Muscular Atrophy EMQN
  • 2018 Spinal Muscular Atrophy EMQN
  • 2019 Spinal Muscular Atrophy EMQN
  • 2020 Spinal Muscular Atrophy EMQN
  • 2021 Spinal Muscular Atrophy EMQN
  • 2022 Spinal Muscular Atrophy EMQN
Accreditation (ISO 15189):
2021-10-07 / 2026-06-14
Turnaround time (maximum):
3 months (10 working days for prenatal diagnosis)
Document(s):
Created:
23 Jul 2019 - 12:08
Changed:
09 Mar 2023 - 16:30
URL:
https://laboguide.uzbrussel.be/laboguide#Analyses:Spinale%20spieratrofie&&&&&97…