Brugada syndrome

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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SCN5A - Brugada syndrome ¹

This test is available for the following conditions:

• Conditions > Cardiovascular > Brugada 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 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)

Remarks
CNV analysis is included.

OMIM: 600163
Performing laboratory: Maastricht UMC+
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane

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