Gene

RBCK1 - polyglucosan body myopathy type 1 with or without immunodeficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 619

RBCK1 - polyglucosan body myopathy type 1 with or without immunodeficiency



€ 619

RBCK1 - polyglucosan body myopathy type 1 with or without immunodeficiency

This test is available for the following conditions:

  • Conditions > Neuromuscular > Polyglucosan body myopathy

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

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 615895
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 619