Centronuclear myopathy

DNM2 - centronuclear myopathie

This test is available for the following conditions:

• Conditions > Neuromuscular > Centronuclear myopathy

This product is also part of the following panels:

• Comprehensive preconception carrier test panel¹
• Fetal akinesia panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic disorders panel
• Mitochondrial disorders panel
• 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: 602378
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MTM1 - X-linked myotubular myopathy type 1 (CNMX)

This test is available for the following conditions:

• Conditions > Neuromuscular > Centronuclear myopathy

This product is also part of the following panels:

• Fetal akinesia panel
• Liver disorders panel
• Mendelian inherited disorders panel with genome wide CNV analysis
• Metabolic 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: 300415
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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MYF6 - centronuclear myopathie

This test is available for the following conditions:

• Conditions > Neuromuscular > Centronuclear myopathy

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

Method

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

OMIM: 159991
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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