Oculopharyngeal muscular dystrophy (OPMD)

Test Information

Title
Oculopharyngeal muscular dystrophy (OPMD)
Lab
Category
Neurogenetics
Test Name (CMS Title)
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: November 14, 2025

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