NL
COL6A1 - Bethlem myopathy
This test is available for the following conditions:
- Conditions > Neuromuscular > Bethlem 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
- Movement 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:
120220
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
COL6A3 - Bethlem myopathy
This test is available for the following conditions:
- Conditions > Neuromuscular > Bethlem 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
- Movement 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:
120250
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
