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
Methodology Notes
PABPN1 GCN repeat expansion analysis
Disease/Condition
Oculopharyngeal muscular dystrophy (OPMD)

Last Updated: November 26, 2025