1. Genetic tests
  2. Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (Full sequencing)

Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (Full sequencing)

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Full name:
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4 (Full sequencing)
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Amniotic fluid,
Chorionic villi
Method category:
Sequence analysis: entire coding region
Method technique:
Next Generation Sequencing (NGS)
Laboratory:
Centre de Génétique Humaine - CHU Sart-Tilman
RIZIV code:
565456-565460
EQA:
  • 2015 Spinal Muscular Atrophy EMQN
  • 2020 Spinal Muscular Atrophy EMQN
  • 2023 Spinal Muscular Atrophy EMQN
Turnaround time (maximum):
1 - 2 months
Created:
23 Jul 2019 - 12:08
Changed:
16 Jan 2024 - 15:00