Polyglucosan body myopathy

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

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