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:
- WES Mendelian inherited disorders (% *)
- WES muscle disorders (% *)
* % 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
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