• Test code: 02212
  • Turnaround time:
    10–21 calendar days (14 days on average)
  • Preferred specimen:
    3mL whole blood in a purple-top EDTA tube (K2EDTA or K3EDTA)
  • Alternate specimens:
    Saliva, assisted saliva, buccal swab and gDNA
  • Sample requirements
  • Request a sample kit

Invitae Brugada Syndrome Test

Test description

This test is for individuals with a clinical diagnosis of Brugada syndrome. The panel includes up to 20 genes associated with Brugada syndrome or other inherited arrhythmia conditions that may present with clinical features similar to Brugada syndrome.

Individuals with clinical symptoms of Brugada syndrome may benefit from diagnostic genetic testing to establish or confirm diagnosis, clarify risks, or inform management. Asymptomatic members of a family with a known pathogenic variant may also benefit by avoiding activities and medications that can trigger symptoms.

Order test

Primary panel (1 gene)
Add-on Preliminary-evidence Genes for Brugada Syndrome (19 genes)

Preliminary-evidence genes currently have early evidence of a clinical association with the specific disease covered by this test. Some clinicians may wish to include genes which do not currently have a definitive clinical association, but which may prove to be clinically significant in the future. These genes can be added at no additional charge. Visit our Preliminary-evidence genes page to learn more.


Alternative tests to consider

Brugada syndrome can also be ordered as part of broader panels to test for arrhythmia disorders. Depending on the individual’s family history, one of these broader panels may be appropriate. Any of these broader panels can be ordered at no additional charge.

The SCN5A gene can also be selected as a single gene test. Some clinicians may wish to test for only the SCN5A gene in individuals with a suspected diagnosis of Brugada syndrome because variants in this gene account for the vast majority of inherited Brugada syndrome.

  • Brugada syndrome (BrS)

Brugada syndrome is a cardiac condition that primarily affects the electrical system of the heart. Brugada syndrome is defined by characteristic ST-segment elevations on an electrocardiogram (ECG). These ST-segment elevations are seen in certain areas of the ECG (leads V1-V3). Individuals with Brugada syndrome may have symptoms related to arrhythmia, such as dizziness, syncope (fainting), or cardiac arrest. Symptoms related to Brugada syndrome can occur at rest but can also be triggered by fever, dehydration/electrolyte imbalance, or the use of certain medications.

This test covers the most common genetic cause of Brugada syndrome: pathogenic variants in the gene SCN5A. Pathogenic variants in the SCN5A gene account for 15%-30% of Brugada syndrome cases. Adding the limited-evidence genes will not increase the clinical sensitivity of the test at this time.

Brugada syndrome is an autosomal dominant condition. Variants in the preliminary evidence gene KCNE5 are inherited in an X-linked manner.

Brugada syndrome exhibits reduced penetrance, meaning that not everyone who inherits a predisposition to develop Brugada syndrome will go on to manifest symptoms. For example, only approximately 20%-30% of individuals with a pathogenic variant in the SCN5A gene have an abnormal resting ECG.

Brugada syndrome typically manifests in adulthood, with a mean age of onset at 40 years, but symptoms can present at any age, from infancy into adulthood.

According to a 2013 consensus statement from HRS/EHRA/APHRS, no precise data are available on the epidemiology of Brugada syndrome. However, its prevalence is much higher in Asian and Southeast Asian countries—especially Thailand, the Philippines, and Japan, reaching 0.5–1 in 1,000 persons. Brugada syndrome is eight to ten times more likely to express in men than in women.

This test may be considered for individuals with:

  • arrhythmia consistent with a diagnosis of Brugada syndrome
  • sudden, unexplained cardiac arrest

  1. Hosseini, SM, et al. Reappraisal of Reported Genes for Sudden Arrhythmic Death: An Evidence-Based Evaluation of Gene Validity for Brugada Syndrome. Circulation. 2018; :None. PMID: 29959160
  2. Priori, SG, et al. Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of individuals with inherited primary arrhythmia syndromes. 2013. Heart Rhythm, Dec;10(12):e85-108. PMID: 23916535
  3. Ackerman MJ, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). 2011 Heart Rhythm Aug; 8(8):1308-1339. PMID: 21787999
  4. January CT, et al. AHA/ACC/HRS guideline for the management of patients with atrial fibrillation: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines and the Heart Rhythm Society. 2014 J Am Coll Cardiol. Dec; 2:64(21):e1-76. PMID: 24685669
  5. Antzelevitch C, et al. Brugada syndrome: report of the second consensus conference. 2005: Heart Rhythm, 2005 Apr;2(4):429-40. PMID: 15898165
  6. Cerrone M et al. Desmosomes and the sodium channel complex: implications for arrhythmogenic cardiomyopathy and Brugada syndrome. Trends Cardiovasc Med. 2014 Jul; 24(5):184-190. PMID: 24656989
  7. Hedly, PL, et al. The genetic basis of Brugada syndrome: a mutation update. 2009: Human Mutation, Sep; 30(9):1256-66. PMID: 19606473
  8. Kapplinger J et al. An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm, 2010 Jan; 7(1):33-36. PMID: 20129283
  9. NCBI GeneReviews. Brugada Syndrome....
  10. Wang, Q., et al. Gain-of-Function KCNH2 Mutations in Individuals with Brugada Syndrome. Journal of Cardiovascular Electrophysiology. 2014 May;25(5):522-30. PMID: 24400717
  11. Kaufman, ES. Genetic Testing in Brugada Syndrome. J Am Coll Cardiol. 2012 Oct 9;60(15):1419-20. PMID: 22840525
  12. Brugada, R, et al. Brugada Syndrome. 2005 Mar 31. In: Pagon, RA, et al, editors. GeneReviews (Internet). University of Washington, Seattle; Available from: http://www.ncbi.nlm.nih.gov/books/NBK1517/ PMID: 20301690

For links to published management guidelines for cardiology conditions, please refer to our Management guidelines page.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons and 10 to 20 base pairs of adjacent intronic sequence on either side of the coding exons in the transcript listed below, depending on the specific gene or test. In addition, the analysis covers select non-coding variants. Any variants that fall outside these regions are not analyzed. Any limitations in the analysis of these genes will be listed on the report. Contact client services with any questions.

Based on validation study results, this assay achieves >99% analytical sensitivity and specificity for single nucleotide variants, insertions and deletions <15bp in length, and exon-level deletions and duplications. Invitae's methods also detect insertions and deletions larger than 15bp but smaller than a full exon but sensitivity for these may be marginally reduced. Invitae’s deletion/duplication analysis determines copy number at a single exon resolution at virtually all targeted exons. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. Certain types of variants, such as structural rearrangements (e.g. inversions, gene conversion events, translocations, etc.) or variants embedded in sequence with complex architecture (e.g. short tandem repeats or segmental duplications), may not be detected. Additionally, it may not be possible to fully resolve certain details about variants, such as mosaicism, phasing, or mapping ambiguity. Unless explicitly guaranteed, sequence changes in the promoter, non-coding exons, and other non-coding regions are not covered by this assay. Please consult the test definition on our website for details regarding regions or types of variants that are covered or excluded for this test. This report reflects the analysis of an extracted genomic DNA sample. In very rare cases, (circulating hematolymphoid neoplasm, bone marrow transplant, recent blood transfusion) the analyzed DNA may not represent the patient's constitutional genome.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
ABCC9 NM_005691.3
CACNA1C* NM_000719.6; NM_001129840.1
CACNA2D1 NM_000722.3
CACNB2 NM_201590.2
GPD1L NM_015141.3
HCN4 NM_005477.2
KCND3 NM_004980.4
KCNE3 NM_005472.4
KCNE5 NM_012282.2
KCNH2 NM_000238.3
KCNJ8 NM_004982.3
PKP2 NM_004572.3
RANGRF NM_016492.4
SCN10A NM_006514.3
SCN1B NM_199037.3; NM_001037.4
SCN2B NM_004588.4
SCN3B NM_018400.3
SCN5A NM_198056.2
SLMAP NM_007159.2
TRPM4 NM_017636.3

CACNA1C: Deletion/duplication and sequencing analysis is not offered for exons 44-45.