Amyotrophic lateral sclerosis

WES amyotrophic lateral sclerosis, ALS

This test is available for the following conditions:

• Conditions > Neurological > Amyotrophic lateral sclerosis

Turnaround time
Regular: 2-3 months / Rapid: 15 working days

Method

• Whole exome sequencing (WES)

Remarks
This test is inclusive panelwide CNV analysis. Upon request a genomewide CNV analysis can be performed. This panel contains 27 genes.

Panel version: DG 3.5
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA

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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:

• WES amyotrophic lateral sclerosis, ALS (100.0% *)
• WES comprehensive preconception carrier test ¹
• WES Mendelian inherited disorders (100.0% *)
• WES movement disorders (100.0% *)
• WES neuropathies¹ (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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:

• WES amyotrophic lateral sclerosis, ALS (100.0% *)
• WES comprehensive preconception carrier test ¹
• WES intellectual disability (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES movement disorders (100.0% *)
• WES neuropathies¹ (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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:

• WES amyotrophic lateral sclerosis, ALS (100.0% *)
• WES Mendelian inherited disorders (100.0% *)
• WES movement disorders (100.0% *)
• WES muscle disorders (100.0% *)
• WES neuropathies¹ (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

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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