Myofibrillar myopathy

BAG3 - myofibrillar myopathy

This test is available for the following conditions:

• Conditions > Neuromuscular > Myofibrillar myopathy

This product is also part of the following panels:

• Dilated cardiomyopathy panel¹
• Heart disorders panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• Muscle disorders panel
• Polyneuropathies panel¹

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

Method

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

OMIM: 603883
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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FLNC - myofibrillar myopathy

This test is available for the following conditions:

• Conditions > Neuromuscular > Myofibrillar myopathy

This product is also part of the following panels:

• Aritmogene cardiomyopathy panel¹
• Arrhythmia and cardiac conduction disorders panel¹
• Dilated cardiomyopathy panel¹
• Fetal akinesia panel
• Heart disorders panel¹
• Hypertrophic cardiomyopathy panel¹
• Mendelian inherited disorders panel with genome wide CNV analysis
• 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: 102565
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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