Genetic Test Details
Oculopharyngeal muscular dystrophy
Test Information
- Title
- Oculopharyngeal muscular dystrophy
- Category
- Neurogenetics
- Sub Category
- Oculopharyngeal muscular dystrophy (OPMD)
- Gene/Platform/Region List
- PABPN1
- Test type
- Single Gene
- Samples Accepted
- DNA , Blood
- Indications
- Carrier Cascade Testing , Diagnosis
- Test Methodology
- PCR
- Methodology Notes
- PABPN1 GCN repeat expansion analysis
- Disease/Condition
- Oculopharyngeal muscular dystrophy (OPMD)
Last Updated: June 23, 2025