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GTR Home > Tests > Short QT Syndrome Gene Panel

Overview

Test order codeHelp: SQTSG

Test name

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Short QT Syndrome Gene Panel (SQTSG)

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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https://www.mayocliniclabs.com/test-catalog/Overview/617463#Specimen
Order URL Help: https://www.mayocliniclabs.com/order-tests/index.html

Specimen source

Peripheral (whole) blood

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000
  • Other
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina NovaSeq 6000
  • Other

Summary of what is tested

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Clinical utility

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Establish or confirm diagnosis

Citations
  • 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). - PubMed ID: 26320108
  • The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. - PubMed ID: 28569435
  • Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. - PubMed ID: 29167417
  • Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. - PubMed ID: 31315195
  • Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death. - PubMed ID: 34557911

Predictive risk information for patient and/or family members

Citations
  • 2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: The Task Force for the Management of Patients with Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC). - PubMed ID: 26320108
  • The new kids on the block of arrhythmogenic disorders: Short QT syndrome and early repolarization. - PubMed ID: 28569435
  • Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome. - PubMed ID: 29167417
  • Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants. - PubMed ID: 31315195
  • Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death. - PubMed ID: 34557911

Clinical validity

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Not provided

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.