NL
WES arrhythmia and cardiac conduction disorders ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Long QT syndrome
- Conditions > Cardiovascular > Short QT syndrome
- Conditions > Cardiovascular > Sick sinus syndrome
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 26 genes.
Panel version:
DG 3.6
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
WES long QT syndrome ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Long QT syndrome
- Conditions > Cardiovascular > Short QT syndrome
- Conditions > Cardiovascular > Sick sinus syndrome
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 10 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
panel sick sinus syndrome (SCN5A, HCN4) ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Sick sinus syndrome
Turnaround time
8 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA
HCN4 - Sick sinus syndrome ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Sick sinus syndrome
This product is also part of the following panels:
- panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
- panel sick sinus syndrome (SCN5A, HCN4) ¹
- WES arrhythmia and cardiac conduction disorders ¹ (100.0% *)
- WES dilated cardiomyopathy ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % 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:
605206
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
SCN5A - Sick sinus syndrome ¹
This test is available for the following conditions:
- Conditions > Cardiovascular > Sick sinus syndrome
This product is also part of the following panels:
- panel Arrhythmia targeting (13 genes) - LQT, SQT, BrS, CPVT, SSS ¹
- panel sick sinus syndrome (SCN5A, HCN4) ¹
- WES arrhythmia and cardiac conduction disorders ¹ (100.0% *)
- WES dilated cardiomyopathy ¹ (100.0% *)
- WES heart disorders¹ (100.0% *)
- WES long QT syndrome ¹ (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
* % 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
- Whole exome sequencing (WES)
This test is inclusive panelwide CNV analysis.
OMIM:
600163
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane
