Arrhythmias

Arboretum Hereditary Arrhythmia Test

Inherited arrhythmia syndromes cause abnormal heart rhythms that can lead to fainting, cardiac arrest, and sudden death, particularly in young and otherwise healthy individuals. Long QT Syndrome, one of the most common forms, affects approximately 1 in 2,000 people. Genetic testing identifies the cause in about 75-80% of clinically diagnosed cases. The Arboretum Hereditary Arrhythmia Test analyzes 28 genes associated with inherited heart rhythm disorders including Long QT Syndrome, Brugada Syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Short QT Syndrome, and Progressive Cardiac Conduction Disease.

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Clinical Indications

Consider testing for individuals with a diagnosed or suspected inherited arrhythmia, unexplained fainting or cardiac arrest (particularly before age 40), ECG findings suggesting an inherited rhythm disorder, early onset atrial fibrillation, a family member who died suddenly and unexpectedly, or a close relative with a known genetic variant associated with an arrhythmia syndrome.

Scope / Genes Tested

ABCC9, ANK2, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CTNNA3, GJA5, HCN4, KCNA5, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ8, KCNQ1, NPPA, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, TECRL, TRDN, TRPM4

Test Details

  • Specimen Source: Buccal (cheek) swab
  • Sequencing Technology: Whole Exome Sequencing

Analytical Performance

This test detects >99.5% of described mutations in the targeted genes, including single nucleotide variants, small insertions and deletions, and multi-exon copy number changes.

Clinical Utility

Inherited arrhythmia syndromes are among the areas where genetic results most directly guide treatment. A positive result can help determine optimal medication choices, inform decisions about implantable cardiac devices, guide activity and exercise recommendations, and identify family members who should be evaluated and monitored.

Variant Reclassification & Ongoing Monitoring

The Science Evolves
A variant that is uncertain today could be reclassified as new research emerges. Your report is a point-in-time result, and Arboretum keeps it up to date.
Your Report Stays Current
Every test includes annual report reissuing at no additional cost. If new evidence changes a result, we update your report and notify your provider.
Built for Providers and Patients
Providers choose how and when updates reach their patients. Patients can join our research registry to access additional genetic insights over time.
Advancing Public Science
We submit novel findings and reclassified variants to public databases like ClinVar and support provider publications.

Sample Report

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Supporting Links and Documents

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