Oculopharyngeal muscular dystrophy (OPMD)

PABPN1 - oculopharyngeal muscular dystrophy

This test is available for the following conditions:

• Conditions > Neuromuscular > Oculopharyngeal muscular dystrophy (OPMD)

This product is also part of the following panels:

• Mendelian inherited disorders panel with genome wide CNV analysis
• Muscle disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

• PCR followed by fragment (length) analysis

Remarks
OPMD is caused by a polyalanine tract expansion in exon 1. Therefore only this exon is analyzed.

OMIM: 602279
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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