
1033
GTD Indications
Carrier / Cascade Testing
Diagnosis
GTD Samples Accepted
Blood
DNA
GTD Test Methodology
PCR
GTD Methodology Notes
PABPN1 GCN repeat expansion analysis
Generic Test name (cms title)
Oculopharyngeal muscular dystrophy (OPMD)
GTD Test type
Single Gene
GTD Location
Children's Hospital of Eastern Ontario
GTD Gene/Platform/Region List
PABPN1
GTD Category
Neurogenetics
GTD Disease/Condition
Oculopharyngeal muscular dystrophy (OPMD)