Long QT Panel, Sequencing and Deletion/Duplication

Casandra

Casandra Test Code AR54508Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3001603CPT Codes 81403, 81404, 81406, 81407, 81414, 81479

Long QT Panel, Sequencing and Deletion/Duplication

Also known as: LQT NGS

Clinical Use

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Use

This test is used to determine the etiology of long QT syndrome (LQTS) in symptomatic individuals. It is also useful for presymptomatic testing in individuals with a family history of LQTS or sudden cardiac death. The test can help identify pathogenic variants that cause LQTS, aiding in the diagnosis and management of the condition. LQTS is characterized by prolongation of the QTc interval and T-wave abnormalities on electrocardiogram, associated with tachyarrhythmias and potentially serious cardiac events such as syncope, ventricular fibrillation, or sudden cardiac death.

Special Instructions

Counseling and informed consent are recommended for genetic testing, and consent forms are available online. Informed consent for genetic testing is required for New York patients. Ensure proper specimen handling and transportation to maintain integrity.

Limitations

A negative result does not exclude a heritable form of long QT syndrome. The test detects variants within the coding regions and intron-exon boundaries of the targeted genes, but deletions, duplications, and insertions of any size may not be detected by massively parallel sequencing. Regulatory region variants and deep intronic variants are not identified. Single exon deletions and duplications may be reported at a lower sensitivity. Diagnostic errors may occur due to rare sequence variations, presence of pseudogenes, repetitive, or homologous regions, and other technical limitations.

Test Details