• Test Code:
  • Department:
  • Test Synonyms:
    Syncopal EpisodesTorsades de pointes tachyarrythmiaAtrial FibrillationAKAP9ANK2CACNA1CCALM1CASQ2CAV3 KCNE1KCNE2KCNH2KCNJ2KCNQ1RYR2SCN4BSCN5ASNTA1
  • CPT Code(s):

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.


Next generation sequencing using Illumina NextSeq 500 technology of the 13 Long QT Syndrome and Short QT Syndrome-associated genes listed below:

Long QT Syndrome and Short QT Syndrome (13 genes):  AKAP9, ANK2, CACNA1C, CALM1, CASQ2, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, RYR2, SCN4B, SCN5A, SNTA1

Specimen Requirements:

Blood: EDTA or ACD (Solution A or B):

  • Adult: 5 mL
  • Child: 5 mL
  • Infant: 2-3 mL

A REQUISITION FORM MUST ACCOMPANY ALL SAMPLES.  Please include detailed clinical information, including ethnicity, clinical history, and family history.

Test Performed (Days):


Turn Around Time:

8 weeks

Shipment Sensitivity Requirements:

  • Package and ship specimen to remain cold, but not frozen. 
  • Ship via overnight express, using the FedEx priority overnight label provided. 
  • Contact Client Services for shipping kits and instructions at (855) 535-1522.


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

Additional Info:

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