NL
MYH2 - proximal myopathy and ophthalmoplegia, autosomal recessive
This test is available for the following conditions:
- Conditions > Neuromuscular > Proximal myopathy and ophthalmoplegia
This product is also part of the following panels:
- Comprehensive preconception carrier test 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:
605637
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
MYH2 - proximal myopathy and ophthalmoplegia, autosomal dominant
This test is available for the following conditions:
- Conditions > Neuromuscular > Proximal myopathy and ophthalmoplegia
This product is also part of the following panels:
- Comprehensive preconception carrier test 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:
605637
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
