C9orf72 - frontotemporal dementia and/or amyotrophic lateral sclerosis 1

This test is available for the following conditions:

  • Conditions > Neurological > Frontotemporal dementia
  • Conditions > Neurological > Amyotrophic lateral sclerosis

This product is also part of the following panels:

** % 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

  • PCR followed by fragment (length) analysis
  • Detection of (expanded) repeats using fragment length analysis of triple primed PCR product.

OMIM: 105550
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 377

Products Conditions Neurological Amyotrophic lateral sclerosis
Exome

WES amyotrophic lateral sclerosis, ALS

Turnaround time
Regular: 4 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 990

WES amyotrophic lateral sclerosis, ALS




€ 990

WES amyotrophic lateral sclerosis, ALS

This test is available for the following conditions:

  • Conditions > Neurological > Amyotrophic lateral sclerosis

Turnaround time
Regular: 4 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 22 genes.

Panel version: DG 2.15
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA





€ 990
Gene

ALS2 - juvenile amyotrophic lateral sclerosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 583

ALS2 - juvenile amyotrophic lateral sclerosis



€ 583

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:

** % 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: 606352
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 583
Gene

C9orf72 - frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 377

C9orf72 - frontotemporal dementia and/or amyotrophic lateral sclerosis 1



€ 377
Gene

SETX - amyotrophic lateral sclerosis type 4

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 600

SETX - amyotrophic lateral sclerosis type 4



€ 600

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:

** % 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)

OMIM: 608465
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 600
Gene

SPG11 - amyotrophic lateral sclerosis type 5

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 649

SPG11 - amyotrophic lateral sclerosis type 5



€ 649

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:

** % 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
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




€ 649
Gene

VCP - amyotrophic lateral sclerosis

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 426

VCP - amyotrophic lateral sclerosis



€ 426

VCP - 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:

** % 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




€ 426