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)
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)
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)
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)
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)
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)
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