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Exome

WES aritmogene cardiomyopathy ¹

Turnaround time
8 weeks

Performing laboratory
Maastricht UMC+

€ 750

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WES aritmogene cardiomyopathy ¹

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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WES aritmogene cardiomyopathy ¹

This test is available for the following conditions:

Conditions > Cardiovascular > Arrhythmogenic right ventricular cardiomyopathy (ARVD)
Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM)

Turnaround time
8 weeks

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 9 genes.

Panel version: DG 3.6
Performing laboratory: Maastricht UMC+
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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Exome

WES dilated cardiomyopathy ¹

Turnaround time
8 weeks

Performing laboratory
Maastricht UMC+

€ 750

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WES dilated cardiomyopathy ¹

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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WES dilated cardiomyopathy ¹

This test is available for the following conditions:

Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM)

Turnaround time
8 weeks

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 21 genes.

Panel version: DG 3.6
Performing laboratory: Maastricht UMC+
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

€ 750

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Exome

WES hypertrophic cardiomyopathy ¹

Turnaround time
8 weeks

Performing laboratory
Maastricht UMC+

€ 750

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WES hypertrophic cardiomyopathy ¹

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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WES hypertrophic cardiomyopathy ¹

This test is available for the following conditions:

Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM)

Turnaround time
8 weeks

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 21 genes.

Panel version: DG 3.6
Performing laboratory: Maastricht UMC+
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

€ 750

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Gene

FLNC - cardiomyopathy ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Maastricht UMC+

€ 583

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FLNC - cardiomyopathy ¹

GEN

complete analysis

targeted analysis of a familial mutation

€ 583

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Gene

TTN - cardiomyopathy ¹

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Performing laboratory
Maastricht UMC+

€ 674

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TTN - cardiomyopathy ¹

GEN

complete analysis

targeted analysis of a familial mutation

€ 674

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TTN - cardiomyopathy ¹

This test is available for the following conditions:

Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM)

This product is also part of the following panels:

WES dilated cardiomyopathy ¹ (99.1% *)
WES fetal akinesia (99.1% *)
WES heart disorders¹ (99.1% *)
WES Mendelian inherited disorders (99.1% *)
WES muscle disorders (99.1% *)

* % 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: 188840
Performing laboratory: Maastricht UMC+
Authorized material(s): FFPE

GEN

complete analysis

targeted analysis of a familial mutation

€ 674

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