Brugada / J Wave

Brugada / J Wave

Brugada syndrome / J wave syndrome panel [27 genes]: 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.

Informed consent
CACNA1CCACNB2SCN5AANK2CACNA2D1GPD1LHCN4KCND3KCNE3KCNE5
KCNJ8SCN1BSCN2BTRPM4ABCC9*ANK3*CACNA1D*FGF12*IRX3*KCND2*
KCNH2*PKP2*RANGRF*SCN10A*SCN3B*SCN4B*SLMAP*

Ventricular arrhythmia and sudden death without structural heart disease panel [90 genes]: this panel is mainly oriented at diagnosing of phenotypes that present ventricular arrhythmias as a primary manifestation of the disease without apparent structural heart disease and not clearly defined phenotype.

It is intended for those individuals whose clinical or anatomopathological study does not show structural alterations, and would be the testing of choice in cases of sudden death with negative autopsy.

It should be especially considered in patients with personal or family history of sudden death, subjects with a history of syncope of undetermined origin, or individuals with idiopathic ventricular fibrillation without structural heart disease.

Study requisition form
Informed consent

Cardiovascular diseases global panel [405 genes]: this panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk. It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them.

It is also useful when a multigenic etiology is suspected. It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent

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.

Informed consent
CACNA1CCACNB2SCN5AANK2
CACNA2D1GPD1LHCN4KCND3
KCNE3KCNE5KCNJ8SCN1B
SCN2BTRPM4ABCC9*ANK3*
CACNA1D*FGF12*IRX3*KCND2*
KCNH2*PKP2*RANGRF*SCN10A*
SCN3B*SCN4B*SLMAP*

his panel is mainly oriented at diagnosing of phenotypes that present ventricular arrhythmias as a primary manifestation of the disease without apparent structural heart disease and not clearly defined phenotype.

It is intended for those individuals whose clinical or anatomopathological study does not show structural alterations, and would be the testing of choice in cases of sudden death with negative autopsy.

It should be especially considered in patients with personal or family history of sudden death, subjects with a history of syncope of undetermined origin, or individuals with idiopathic ventricular fibrillation without structural heart disease.

Study requisition form
Informed consent

This panel includes all genes associated or potentially associated with the development of inherited cardiovascular diseases as well as genes associated with increased global/general cardiovascular risk. It covers a group of heterogeneous diseases, and genetic testing allows for the differential diagnosis between them. It is also useful when a multigenic etiology is suspected.

It should be considered when an exhaustive study of all genes related to cardiovascular pathologies is intended, especially in cases of sudden death where clinical or pathological information is incomplete or the diagnosis is unclear.

As for research, it is an attractive alternative to the exomes because it includes both genes with proven pathogenicity and candidate genes. The study ensures maximum yield with adequate coverages (which allows for assessing structural variants, such as large deletions and duplications).

Study requisition form
Informed consent
  • 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).
  • 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.

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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