Myotonic dystrophy type 2
| Test Information | |
|---|---|
| Test Name | Myotonic dystrophy type 2 |
| Lab (Location) | Children's Hospital of Eastern Ontario |
| Category | Neurogenetics |
| Subcategory | Myotonic dystrophy type 2 |
| Gene/Platform/Region List | CNBP |
| Test type | Single Gene |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Carrier / Cascade Testing, Diagnosis |
| Test Methodology | PCR |
| Methodology Notes | CNBP CCTG repeat expansion analysis |
| Diseases/Conditions | Proximal Myotonic Myopathy (PROMM) |