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
Requery (SOQO)
≤ 5 days
Genes Tested
1
Panel 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.
Order This Test
Contact our clinical team to order this panel or learn more.
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 notes
N/A
Genomic build
GRCh38
Genes Tested
1 genes included in this panel
Ordering Information
Turnaround Time
Typically 6-21 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.
Clinical 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.
Ready to order this test?
Contact our clinical team to order the Brugada Syndrome Test for your patients.