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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