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Oculopharyngeal muscular dystrophy

Test Information

Title
Oculopharyngeal muscular dystrophy
Category
Neurogenetics
Test Name (CMS Title)
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: December 09, 2025