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
- Blood , DNA
- 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