• Test Code:
  • Department:
    Molecular Genetics
  • Test Synonyms:
    Ventricular Tachycardia • CPVT • ANK2 • CALM1 • CASQ2 • KCNJ2 • RYR2 • TRDN
  • 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. 

Individuals with CPVT experience episodes of ventricular tachycardia induced by exercise or acute emotions which can lead to light-headedness, dizziness, and syncope. The prevalence of CPVT is estimated at 1/10,000. This next-generation sequencing test is designed to detect mutations in the coding region of 6 genes associated with Catecholaminergic Polymorphic Ventricular Tachycardia.

Reasons for Referral:

  • Presence of arrhythmia.
  • Clinical presentation consistent with CPVT.
  • 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.

Catecholaminergic Polymorphic Ventricular Tachycardia (6 genes):  
ANK2, CALM1, CASQ2, KCNJ2, RYR2, TRDN

Methodology:

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Test Performed (Days):

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References:

  1. GeneReviews: Napolitano et al., 2014, http://www.ncbi.nlm.nih.gov/books/NBK1289/
  2. Genetics Home Reference: http://ghr.nlm.nih.gov/condition/catecholaminergic-polymorphic-ventricular-tachycardia

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