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
- Indications
- Diagnosis, Carrier Cascade Testing
- Test Methodology
- Methodology Notes
-
TP-PCR and fragment analysis
- Disease/Condition
-
Oculopharyngeal muscular dystrophy (OPMD)
Last Updated: November 26, 2025