Amyotrophic lateral sclerosis, ALS panel
This test is available for the following conditions:
- Conditions > Neurological > Amyotrophic lateral sclerosis
Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Method
- Exome analysis (WES or WGS data)
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed.
Panel version:
DG-4.0.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)
ALS2 - juvenile amyotrophic lateral sclerosis
This test is available for the following conditions:
- Conditions > Neurological > Amyotrophic lateral sclerosis
This product is also part of the following panels:
- Amyotrophic lateral sclerosis, ALS panel
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement 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:
606352
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SETX - amyotrophic lateral sclerosis type 4
This test is available for the following conditions:
- Conditions > Neurological > Amyotrophic lateral sclerosis
This product is also part of the following panels:
- Amyotrophic lateral sclerosis, ALS panel
- Comprehensive preconception carrier test panel¹
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement 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
- Deletion/duplication analysis (MLPA)
MLPA analysis if only one variant has been found in an autosomal recessive disease.
OMIM:
608465
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
VCP - frontotemporal dementia and/or amyotrophic lateral sclerosis 6
This test is available for the following conditions:
- Conditions > Neurological > Amyotrophic lateral sclerosis
This product is also part of the following panels:
- Amyotrophic lateral sclerosis, ALS panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- Movement disorders panel
- 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:
611745
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane