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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 320

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- Radboudumc & MaasrichtUMC+

Oculopharyngeal muscular dystrophy (OPMD)

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Gene

PABPN1 - oculopharyngeal muscular dystrophy

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

Performing laboratory
Radboudumc

€ 320

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PABPN1 - oculopharyngeal muscular dystrophy

GEN

complete analysis

targeted analysis of a familial mutation

€ 320

Add Update Remove

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