RYR1 - autosomal dominant congenital myopathy type 1A

This test is available for the following conditions:

  • Conditions > Neuromuscular > Central Core Disease

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Mendelian inherited disorders panel
  • Mitochondrial disorders panel
  • Muscle disorders panel

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

Method

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

OMIM: 180901
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane



€ 1065
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Gene

RYR1 - autosomal dominant congenital myopathy type 1A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 1065
View Add

RYR1 - autosomal dominant congenital myopathy type 1A


€ 1065
Add