ANO5 - limb-girdle muscular dystrophy type 2L

This test is available for the following conditions:

  • Conditions > Neuromuscular > Limb-girdle muscular dystrophy

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
  • Short stature/skeletal dysplasia panel with genome wide CNV analysis

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

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries
  • Deletion/duplication analysis (MLPA)
Remarks
MLPA analysis if only one variant has been found in an autosomal recessive disease.

OMIM: 608662
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 492

Gene

ANO5 - limb-girdle muscular dystrophy type 2L

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 492

ANO5 - limb-girdle muscular dystrophy type 2L



€ 492
Gene

CAPN3 - limb-girdle muscular dystrophy type 2A

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 501

CAPN3 - limb-girdle muscular dystrophy type 2A



€ 501

CAPN3 - limb-girdle muscular dystrophy type 2A

This test is available for the following conditions:

  • Conditions > Neuromuscular > Limb-girdle muscular dystrophy

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: 253600
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 501
Gene

DYSF - limb-girdle muscular dystrophy type 2B

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 773

DYSF - limb-girdle muscular dystrophy type 2B



€ 773

DYSF - limb-girdle muscular dystrophy type 2B

This test is available for the following conditions:

  • Conditions > Neuromuscular > Limb-girdle muscular dystrophy

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: 603009
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 773
Gene

FKRP - limb-girdle muscular dystrophy type 2I

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 361

FKRP - limb-girdle muscular dystrophy type 2I



€ 361

FKRP - limb-girdle muscular dystrophy type 2I

This test is available for the following conditions:

  • Conditions > Neuromuscular > Limb-girdle muscular dystrophy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Fetal akinesia panel
  • Heart disorders panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • 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: 606596
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 361
Gene

SGCB - limb-girdle muscular dystrophy type 2E

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 360

SGCB - limb-girdle muscular dystrophy type 2E



€ 360

SGCB - limb-girdle muscular dystrophy type 2E

This test is available for the following conditions:

  • Conditions > Neuromuscular > Limb-girdle muscular dystrophy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders 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: 600900
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 360
Gene

TCAP - limb-girdle muscular dystrophy type 2G

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 327

TCAP - limb-girdle muscular dystrophy type 2G



€ 327

TCAP - limb-girdle muscular dystrophy type 2G

This test is available for the following conditions:

  • Conditions > Neuromuscular > Limb-girdle muscular dystrophy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Heart disorders 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: 604488
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 327
Gene

TRAPPC11 - limb-girdle muscular dystrophy type 2S

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 541

TRAPPC11 - limb-girdle muscular dystrophy type 2S



€ 541

TRAPPC11 - limb-girdle muscular dystrophy type 2S

This test is available for the following conditions:

  • Conditions > Neuromuscular > Limb-girdle muscular dystrophy

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel with genome wide CNV analysis
  • 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: 615356
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 541