Genetic Test Details

Oculopharyngeal muscular dystrophy (OPMD)

Test Information

Titre
Oculopharyngeal muscular dystrophy (OPMD)
Catégorie
Neurogenetics
Sub Category
Oculopharyngeal muscular dystrophy (OPMD)
Gene/Platform/Region List
PABPN1 (GCN repeats)
Test type
Single Gene
Samples Accepted
Blood, DNA, Tissue
Indications
Diagnostics, Carrier Cascade Testing
Test Methodology
Electrophoresis, PCR
Methodology Notes
TP-PCR and fragment analysis
Disease/Condition
Oculopharyngeal muscular dystrophy (OPMD)

Dernière Mise à Jour: 05 septembre 2025