Oculopharyngeal muscular dystrophy
| Test Information | |
|---|---|
| Test Name | Oculopharyngeal muscular dystrophy |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Neurogenetics |
| Subcategory | Oculopharyngeal muscular dystrophy (OPMD) |
| Gene/Platform/Region List | PABPN1 |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Carrier / Cascade Testing, Diagnosis |
| Test Methodology | PCR |
| Methodology Notes | PABPN1 GCN repeat expansion analysis |
| Diseases/Conditions | Oculopharyngeal muscular dystrophy (OPMD) |