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Spinal muscular atrophy
Test Information
- Title
-
Spinal muscular atrophy
- Category
- Neurogenetics
- Test Name (CMS Title)
-
Spinal muscular atrophy
- Gene/Platform/Region List
-
SMN1, SMN2
- Test type
- Samples Accepted
- Blood, DNA
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- 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)
Last Updated: December 09, 2025
