Genetic Test Details
Spinal muscular atrophy (SMA)
Test Information
- Titre
-
Spinal muscular atrophy (SMA)
- Catégorie
- Neurogenetics
- Sub Category
-
Spinal muscular atrophy
- Gene/Platform/Region List
-
SMN1, SMN2
- Test type
- Gene Panel
- Samples Accepted
- Blood, DNA, Cultured Cells, Amniocyte, CVS
- Indications
- Diagnostics, Carrier Cascade Testing, Prenatal
- Test Methodology
- CNV
- Methodology Notes
-
MLPA Exon 7
- Disease/Condition
-
Spinal muscular atrophy (SMA), SMA I (Werdnig-Hoffmann disease, acute SMA), SMA II (Chronic SMA, Dubowitz disease), SMA III (Kugelberg-Welander disease, juvenile SMA), SMA IV (adolescent-SMA, adult-onset SMA)
Dernière Mise à Jour: 04 juin 2026
