Genetic Test Details | Ontario Health

Oculopharyngeal muscular dystrophy

Test Information

Title: Oculopharyngeal muscular dystrophy
Lab: Children's Hospital of Eastern Ontario
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)

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