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:

** % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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




€ 320

Products Conditions Neuromuscular Oculopharyngeal muscular dystrophy (OPMD)
Gene

PABPN1 - oculopharyngeal muscular dystrophy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 320

PABPN1 - oculopharyngeal muscular dystrophy



€ 320