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Brugada Syndrome Test

A targeted analysis of the SCN5A gene for diagnosing Brugada syndrome, utilizing next-generation sequencing to detect variants and copy number changes.

Turnaround

6-21 days

Turnaround Requery

≤ 5 days

Test Description

Channelopathies are a broad spectrum of arrhythmogenic and electrophysiological disorders affecting heart ion channels. There are many different causes of channelopathies, which range from environmental exposures, such as medications, to inherited genetic risk factors. In cases where an external cause is not identified, or a family history is suspicious of a hereditary risk of channelopathy, diagnostic genetic testing may be ordered.

This test evaluates for Brugada syndrome through analysis of the SCN5A gene.

View the complete description of this test

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Our team is available Monday through Friday, 9am-5pm Pacific Time.

(844) 211 2070clinicalsupport@helix.com

Indications for Testing

Providing a genetic evaluation for individuals with a personal or family history suggestive of a hereditary Brugada syndrome. Establishing a diagnosis of Brugada syndrome.

Methodology

This test utilizes next-generation sequencing to detect single nucleotide variants, insertions and deletions up to 20 bp, and copy number variants in the SCN5A gene, which is associated with Brugada syndrome.

Technical Specifications

Analytical sensitivity (SNV)> 99%Analytical sensitivity (indel)> 99%Analytical specificity> 99%CNV sensitivity (multi-exon)> 99%CNV sensitivity (single-exon)> 90%Gene notesN/AGenomic buildGRCh38

Genes Tested

SCN5A

Showing 1 of 1 genes in this panel

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Important Test Information

Turnaround time: Typically 7-21 days (standard), Typically < 5 days (requery)

Preferred specimen: BD Vacutainer Whole Blood K2 EDTA Collection Tube 4mL or Oragene Dx Saliva Collection Kit

Shipping instructions: Specimens to arrive at Helix within 96 hours of collection at ambient temperature.

Brugada syndrome (BrS) is an electrophysiologic disorder of the heart that is characterized by pathognomonic electrocardiogram (ECG) findings. These findings are associated with increased risk for arrhythmogenic events which may result in syncope or, in rare cases, cardiac arrest or sudden death.

Hereditary forms of BrS have been seen to follow an autosomal dominant inheritance pattern.

All detected variants are evaluated according to American College of Medical Genetics and Genomics recommendations. Variants are classified based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.