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, Isolated DNA
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
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