Spinal muscular atrophy

Test Information

Title
Spinal muscular atrophy
Lab
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: November 14, 2025

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