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
  • Mendelian inherited disorders panel
  • 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




€ 426

Exome

Amyotrophic lateral sclerosis, ALS panel

Turnaround time
Regular: 2-3 months / Rapid: 15 working days
Performing laboratory
Radboudumc
€ 750

Amyotrophic lateral sclerosis, ALS panel




€ 750

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-3.9.0
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood (preferably), isolated DNA (only when EDTA blood is not an option)





€ 750
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:

  • Amyotrophic lateral sclerosis, ALS panel
  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel
  • 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




€ 583
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:

  • Amyotrophic lateral sclerosis, ALS panel
  • Comprehensive preconception carrier test panel¹
  • Mendelian inherited disorders panel
  • 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




€ 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:

  • Amyotrophic lateral sclerosis, ALS panel
  • Comprehensive preconception carrier test panel¹
  • Intellectual disability panel
  • Mendelian inherited disorders panel
  • 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




€ 649
Gene

VCP - frontotemporal dementia and/or amyotrophic lateral sclerosis 6

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

VCP - frontotemporal dementia and/or amyotrophic lateral sclerosis 6



€ 426