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