Arrhythmogenic right ventricular cardiomyopathy (ARVD)

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, Isolated DNA

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panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Arrhythmogenic right ventricular cardiomyopathy (ARVD)
• Conditions > Cardiovascular > Brugada syndrome
• Conditions > Cardiovascular > Long QT syndrome
• Conditions > Cardiovascular > Short QT syndrome
• Conditions > Cardiovascular > Sick sinus syndrome

Turnaround time
8 weeks

Method

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

Remarks
It includes sequencing of all coding regions of the following 13 genes: CACNA1C, CALM1, CASQ2, HCN4, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, LMNA, RYR2, SCN5A en TRDN.

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

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