Oculopharyngeal muscular dystrophy (OPMD)
| Test Information | |
|---|---|
| Test Name | Oculopharyngeal muscular dystrophy (OPMD) |
| Lab (Location) | North York General Hospital |
| Category | Neurogenetics |
| Subcategory | Oculopharyngeal muscular dystrophy (OPMD) |
| Gene/Platform/Region List | PABPN1 (GCN repeats) |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA, Tissue |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Electrophoresis, PCR |
| Methodology Notes | TP-PCR and fragment analysis |
| Diseases/Conditions | Oculopharyngeal muscular dystrophy (OPMD) |