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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)

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report Panel analysis directly followed by an exome wide analysis (if the gene panel analysis does not reveal the genetic cause of the disorder)

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days This test is designed for prenatal anomalies, newborn or early childhood (severe/life-threatening) conditions or conditions in need of gene specific treatment options.

Rapid Single analysis of proband only - TAT: <15 business days This test is designed for severe/life-threatening conditions or conditions in need of gene-specific treatment options AND when trio/de novo analysis is not an option or common practice.

€ 750

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Amyotrophic lateral sclerosis, ALS panel

Type of exome analysis

Gene panel analysis

Gene panel analysis and exome wide analysis - 1 report

Form of analysis

Single analysis of proband only (DNA parents for storage) - TAT: 2-3 months

Trio/de novo analysis of proband and both parents - TAT: 2-3 months

Single analysis of proband only - TAT: 2-3 months

Rapid Trio/de novo analysis of proband and both parents - TAT: <15 business days

Rapid Single analysis of proband only - TAT: <15 business days

€ 750

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ALS2 - juvenile amyotrophic lateral sclerosis

GEN

complete analysis

targeted analysis of a familial mutation

€ 583

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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 583

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SETX - amyotrophic lateral sclerosis type 4

GEN

complete analysis

targeted analysis of a familial mutation

€ 600

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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 600

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SPG11 - amyotrophic lateral sclerosis type 5

GEN

complete analysis

targeted analysis of a familial mutation

€ 649

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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 649

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VCP - frontotemporal dementia and/or amyotrophic lateral sclerosis 6

GEN

complete analysis

targeted analysis of a familial mutation

€ 426

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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

GEN

complete analysis

targeted analysis of a familial mutation

€ 426

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