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  • Test Synonyms:
    Syncopal EpisodesTorsades de pointes tachyarrythmiaAtrial FibrillationAKAP9ANK2CACNA1CCALM1CASQ2CAV3 KCNE1KCNE2KCNH2KCNJ2KCNQ1RYR2SCN4BSCN5ASNTA1
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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. 

Long QT syndrome and Short QT syndrome are repolarization disorders characterized by prolonged QT intervals and very short QT intervals, respectively. These conditions are associated with syncopal episodes, potentially lethal torsades de pointes tachyarrhythmias, atrial fibrillation, and sudden cardiac death at a young age. The prevalence is Long QT Syndrome is estimated to at 1/2,000; however, the prevalence of Short QT Syndrome is currently unknown. This next-generation sequencing test is designed to detect mutations in the coding region of 13 genes associated with Long QT Syndrome and Short QT Syndrome.

 Reasons for Referral:

  • Presence of arrhythmia.
  • Clinical presentation consistent with Long QT or Short QT 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.

Long QT Syndrome and Short QT Syndrome (13 genes):  


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  1. GeneReviews: Alders et al., 2015, http://www.ncbi.nlm.nih.gov/books/NBK1129/

Additional Info:

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