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
- Single Gene
- Samples Accepted
- Blood, DNA, Dried Blood Spot – Dx collected Dried Blood Spot* (NBS DBS are considered in exceptional circumstances)
- Indications
- Carrier Cascade Testing, Diagnostics
- Test Methodology
- MLPA
- Methodology Notes
-
ddPCR and MLPA - Copy Number Only
- Disease/Condition
-
Spinal Muscular Atrophy
Dernière Mise à Jour: 04 juin 2026