Brugada Syndrome
NGS panel

Genes
(full
coding region):		 ABCC9, AKAP9, ANK2, CASQ2, CACNA1C, CACNA2D1, CACNB2, DSG, DSP, FGF12, GPD1L, HCN4, HEY2, KCNAB2, KCNB2, KCND3, KCNE3, KCNE5, KCNH2, KCNJ8, KCNJ16, LRRC10, PKP2, PLN, RANGRF, RYR2, SCN4A, SCN5A, SCN1B, SCN2B, SCN3B, SCN10A, SCNN1A, SEMA3A, SLMAP, TBX5, TKT, TTN, TRPM4, XIRP1, XIRP2

List of diseases covered by the panel
Lab method: NGS panel with CNV analysis
TAT: 6-9 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the SCN5A gene

Genes: SCN5A
Lab method: MLPA
TAT: 4-6 weeks
Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.
Ordering information: Go to online ordering or download sample submission form

Indications for genetic testing:

  1. Confirmation of clinical diagnosis
  2. Risk assessment of at-risk relatives
  3. Prenatal diagnosis for known familial mutation
  4. Differential diagnosis of Brugada syndrome from other genetic heart conditions
  5. Genetic counseling

Brugada syndrome, caused by an ion channelopathy, is characterized by ST-segment abnormalities in leads V1-V3 on ECG and an increased risk of sudden death in patients with structurally normal hearts. Brugada syndrome manifests predominantly during adulthood, in patients between ages 20 to 40.

Symptoms include ventricular arrhythmia, syncope, and cardiac arrest usually during sleep or rest. In some patients sudden cardiac death may occur without any sign of clinical symptoms. Brugada syndrome may overlap with conduction disease. Symptoms such as first-degree AV block, intraventricular conduction delay, right bundle branch block, and sick sinus syndrome could be included in a differential diagnosis.

The prevalence of Brugada syndrome is estimated to affect 5 in 10,000 people worldwide. Although Brugada syndrome affects both men and women, the condition is more prevalent among men.

Brugada syndrome is inherited in an autosomal dominant manner.

References:

Antzelevitch C et al. Brugada Syndrome. Report of the second consensus conference. Heart Rhythm 2005; 2 (4): 429–440
Brugada R et al. Brugada Syndrome. GeneReviews® 2005 Mar 31 (Updated 2014 Apr 10).
Fowler SJ, Priori SG. Curr Opin Cardiol. 2008; 24:74-81.