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.
6-21 days
≤ 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.
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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
> 99%
> 99%
> 99%
> 99%
> 90%
N/A
GRCh38
Genes Tested
Showing 1 of 1 genes in this panel