Cardiomyopathy (HCM/DCM)

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)

---

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)

---

FLNC - cardiomyopathy ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Cardiomyopathy (HCM/DCM)

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

Method

• Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 102565
Performing laboratory: Maastricht UMC+
Authorized material(s): FFPE

---

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

---