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