COL6A2 - 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: 120240
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 509

Gene

COL6A1 - Bethlem myopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

COL6A1 - Bethlem myopathy



€ 509

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




€ 509
Gene

COL6A2 - Bethlem myopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 509

COL6A2 - Bethlem myopathy



€ 509
Gene

COL6A3 - Bethlem myopathy

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 715

COL6A3 - Bethlem myopathy



€ 715

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




€ 715