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Short QT Syndrome Panel

The Short QT Syndrome Panel is a comprehensive NGS panel that can be used to confirm a clinical diagnosis of Short QT syndrome or identify at-risk individuals. Short QT syndrome is characterized by a dysfunction of the heart’s electrical system which causes a shortened QT interval on ECG and can lead to irregular heart rhythms. Individuals with short QT syndrome experience episodes of irregular heartbeat which can lead to syncope (fainting), or, in severe cases, cardiac arrest and sudden death. The symptoms of short QT syndrome can present in childhood or adulthood, and most commonly occur during periods of intense exercise or emotional distress, although they can occur even when the patient is at rest.


Short QT syndrome is a rare condition, although the exact prevalence is unknown.

Included disorders

This panel includes genes associated with:

  • Short QT syndrome

Inheritance and Penetrance

Short QT syndrome is inherited in an autosomal dominant manner. The penetrance of short QT syndrome is unknown.

Clinical Sensitivity

The yield of genetic testing in individuals with short QT syndrome is unknown (Ackerman et al, 2011). The Short QT Syndrome Panel includes all of the genes commonly associated with this condition.

Methodology and Analytical Sensitivity

Next-generation sequencing technology is used to test clinically relevant portions of each gene, including coding exons, adjacent intron/exon boundaries, and selected introns/noncoding variants. Pathogenic and likely pathogenic variants are confirmed by orthogonal methods. Copy number variants, including intragenic deletions and duplications are detected to a resolution of single exon. To request analysis of a specific single exon copy number variant, please contact our Client Services team prior to ordering. Analytical sensitivity of the assay is 99.5%.

Indications for Testing

  • Confirmation of a clinical diagnosis
  • Unexplained cardiac arrest
  • Arrhythmia suggestive of short QT syndrome
  • Risk assessment for asymptomatic family of members of proband with molecular diagnosis of short QT syndrome

Included Genes (6)



  1. Ackerman MJ, Priori SG, Willems S, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace. 2011;13(8):1077-109.