Genetic Test Details
Spinal muscular atrophy
Test Information
- Titre
- Spinal muscular atrophy
- Catégorie
- Neurogenetics
- Sub Category
- Spinal muscular atrophy
- Gene/Platform/Region List
- SMN1, SMN2
- Test type
- Gene Panel
- Samples Accepted
- DNA , Blood , Cultured Cells , CVS , Amniocyte
- Indications
- Carrier Cascade Testing , Diagnosis , 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: 18 juin 2025