Amyotrophic lateral sclerosis

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)

Remarks
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)

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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

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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
• Neuropathies 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)

Remarks
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

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SPG11 - amyotrophic lateral sclerosis type 5

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
• Intellectual disability panel with genome wide CNV analysis
• Mendelian inherited disorders panel with genome wide CNV analysis
• Movement disorders panel
• Neuropathies 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)

Remarks
Deletions are rare. Only if one mutation (by sequencing) is found a deletion/duplication (MLPA) analysis will be performed.

OMIM: 610844
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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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
• Neuropathies 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

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