NL
ACTA1 - nemalin myopathy type 3
This test is available for the following conditions:
- Conditions > Neuromuscular > Nemaline myopathy
This product is also part of the following panels:
- Comprehensive preconception carrier test panel¹
- Fetal akinesia panel
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Mitochondrial disorders panel
- Muscle disorders panel
Turnaround time
Complete analysis: 6 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
102610
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
CFL2 - nemalin myopathy type 7
This test is available for the following conditions:
- Conditions > Neuromuscular > Nemaline myopathy
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:
601443
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
KBTBD13 - nemaline myopathy type 6
This test is available for the following conditions:
- Conditions > Neuromuscular > Nemaline myopathy
This product is also part of the following panels:
- Heart disorders panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Muscle disorders panel
- Polyneuropathies panel¹
Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
613727
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TPM2 - nemaline myopathy type 4
This test is available for the following conditions:
- Conditions > Neuromuscular > Nemaline myopathy
This product is also part of the following panels:
- Fetal akinesia panel
- 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:
190990
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
TPM3 - nemaline myopathy type 1
This test is available for the following conditions:
- Conditions > Neuromuscular > Nemaline 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
- 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:
191030
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
