Spinal Muscular Atrophy

Test Information
Test Name Spinal Muscular Atrophy
Lab (Location) The Hospital for Sick Children
Category Neurogenetics
Subcategory Spinal Muscular Atrophy
Gene/Platform/Region List SMN1, SMN2, SMNC, SMNT
Test type Gene Panel
Samples Accepted Blood
Indications Diagnosis Diagnosis, Carrier / Cascade Testing, Prenatal
Test Methodology CNV
Methodology Notes MLPA: SM1/SM2
Diseases/Conditions Spinal Muscular Atrophy