Brugada Syndrome Panel / J Wave Syndrom Panel [27 genes]

These two diseases are caused by abnormal functioning of some cardiac ion channels. They are included together in this panel because their pathophysiological mechanism is very similar; some authors even suggest that they are part of the same spectrum of diseases. They manifest themselves by abnormalities in ECG surface with a predisposition to the development of ventricular arrhythmias that may produce syncope, cardiac arrest, or sudden death; these often being the first manifestations of the disease.

  • Patients with an electrocardiographic pattern compatible with Brugada syndrome (ST segment elevation ≥2 mm in more than one right precordial lead (V1-V3), followed by a negative T waves) or a diagnosis of early repolarization (J point elevation of ≥1 mm in ≥2 contiguous inferior and/or lateral leads).
  • Patients under diagnostic suspicion of the disease presenting some of the following characteristics: Subjects with a personal or familiar history of sudden death. Subjects with a history of syncope of unknown origin. Subjects with ventricular fibrillation of unknown origin.
  • Relatives of patients with a genetic diagnosis of Brugada or J wave syndrome (familiar screening).

The probability of detecting a likely causal mutation in a patient under suspicion of Brugada syndrome is approximately 30%. As for J wave syndrome, the probability has not been clearly established.

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1. Download & fill out

Please cover as many fields as possible in both documents

2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

3. Pack the sample

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4. Send the sample & the request

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5. Result: the report

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Brugada Syndrome Panel / J Wave Syndrom Panel

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Turnaround time (TAT): 4 weeks

Ref. S-201906404

Brugada Syndrome Panel / J Wave Syndrom Panel: View panel

  • The panel includes the main gene associated with Brugada syndrome (SCN5A), as well as a group of genes with clinical and functional evidence of association with the entity.
  • Certain cases of Brugada syndrome in which mutations in SCN5A are not identified can present potentially pathogenic mutations in the group of genes additionally included in this panel.

  • CACNA1C
  • CACNB2
  • SCN5A
  • ANK2
  • CACNA2D1
  • GPD1L
  • HCN4
  • KCND3
  • KCNE3
  • KCNE5
  • KCNJ8
  • SCN1B
  • SCN2B
  • TRPM4
  • ABCC9*
  • ANK3*
  • CACNA1D*
  • FGF12*
  • IRX3*
  • KCND2*
  • KCNH2*
  • PKP2*
  • RANGRF*
  • SCN10A*
  • SCN3B*
  • SCN4B*
  • SLMAP

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Related panels
Arrhythmias and Sudden Death without Structural Cardiopathy General Panel [90 genes]

Panel that include Brugada syndrome and J Wave syndrome genes

Cardiomyopathies, Arrhythmias, and Sudden Death General Panel [251 genes]

Panel that include Brugada syndrome and J Wave syndrome genes

Cardiovascular Diseases General Panel [405 genes]

Panel that include Brugada syndrome and J Wave syndrome genes

References

  • HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC in June 2013. Priori SG et al. Heart Rhythm. 2013 Dec;10(12):1932-63.
  • 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). Ackerman MJ, Priori SG, et al. Europace. 2011 Aug;13(8):1077-109.

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