Spinal muscular atrophy
| 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) |