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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
- Muscle disorders panel
- Short stature/skeletal dysplasia panel
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)
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
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
- 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
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
- 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
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
- Mendelian inherited disorders panel
- 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
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
- 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
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
- Mendelian inherited disorders panel
- 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
