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:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders panel¹
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Metabolic disorders panel
  • Muscle disorders panel
  • Primary immunodeficiencies panel

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



€ 377
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Gene

RBCK1 - polyglucosan body myopathy type 1 with or without immunodeficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377
View Add

RBCK1 - polyglucosan body myopathy type 1 with or without immunodeficiency


€ 377
Add