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

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

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Full name:
Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
Test type:
Clinical
Test specialty:
Molecular Genetics
Test purpose:
Carrier diagnosis,
Post-natal Diagnosis,
Prenatal diagnosis
Specimen:
Peripheral (whole) blood on EDTA,
Chorionic villi,
Amniotic fluid
Method category:
Deletion/duplication analysis
Method technique:
MLPA based techniques
Laboratory:
Centre de Génétique Médicale UCL
RIZIV code:
565456-565460
EQA:
  • 2015 Spinal Muscular Atrophy EMQN
  • 2019 Spinal Muscular Atrophy EMQN
  • 2020 Spinal Muscular Atrophy EMQN
  • 2022 Spinal Muscular Atrophy EMQN
Accreditation (ISO 15189):
2022-12-22 / 2027-12-21
Turnaround time (maximum):
2 months
Document(s):
Created:
23 Jul 2019 - 12:08
Changed:
25 Jan 2023 - 09:17