| Test Information |
| Test Name |
Spinal muscular atrophy |
| Lab (Location) |
Children's Hospital of Eastern Ontario |
| Category |
Neurogenetics |
| Subcategory |
Spinal muscular atrophy |
| Gene/Platform/Region List |
SMN1, SMN2
|
| Test type |
Gene Panel |
| Samples Accepted |
Blood, DNA, Cultured Cells, Amniocyte, CVS |
| Indications Diagnosis |
Diagnosis, Carrier / Cascade Testing, Prenatal |
| Test Methodology |
CNV |
| Methodology Notes |
MLPA Exon 7 |
| Diseases/Conditions |
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) |
