• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    CACNA1C • CACNB2 • GPD1L • HCN4 • KCNE3 • SCN1B • SCN3B • SCN5A • TRPM4
  • CPT Code(s):
    Contact KDL for billing information
Background:

The inherited arrhythmias comprise a group of genetically heterogeneous diseases Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Long QT Syndrome, and Short QT Syndrome.  These disorders have an impact across all age groups. 

Brugada syndrome is a cardiac conduction abnormality that can lead to ventricular arrhythmia, syncope, seizures, difficulty breathing, or sudden death.  The prevalence of Brugada syndrome is currently unknown. This next-generation sequencing test is designed to detect mutations in the coding region of 9 genes associated with Brugada Syndrome.

Reasons for Referral:

  • Presence of arrhythmia.
  • Clinical presentation consistent with Brugada syndrome.
  • Positive family history for arrhythmia (targeted testing is available if familial mutation is known).
  • Carrier testing.
For detailed information and ordering instructions, please refer to Full Gene Analysis (1240). Genes may be added or removed from the list below if clinically indicated.

The 9 Brugada associated genes are listed below:
CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A, TRPM4

Methodology:

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References:

  1. GeneReviews:Brugada et al., 2014, http://www.ncbi.nlm.nih.gov/books/NBK1517/
  2. Genetics Home Reference: http://ghr.nlm.nih.gov/condition/brugada-syndrome

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