1151 – Six Genetic tests for the Diagnosis of Inheritable Cardiac Conduction Disorders

New MBS item.

These genetic tests are used to detect the presence of mutations in the KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, and SCN5A genes. Testing for mutations in all six of these genes (diagnostic testing) can be used to diagnose Long QT syndrome (LQTS) in individuals clinically suspected of this condition on the basis of their clinical presentation, or a family history of sudden death in a first degree relative and suggestive findings on clinical investigations (ECG or exercise testing). A genetic test for a single mutation (predictive testing) in the above genes, can be used to determine whether an individual has inherited the gene causing the familial risk of arrhythmia or sudden death that has been previously demonstrated in a genetic relative.

Type: Investigative

Long QT syndrome (LQTS) is an inherited disorder of electrical conduction in the heart and a leading cause of sudden death in apparently healthy individuals. LQTS can arise from mutation of one of several genes. In the main, encoding proteins for voltage gated potassium and sodium channels in the membrane of cells responsible for electrical conduction in the heart. Mutations in any of these genes can create abnormal proteins in these channels, which stop them generating and conducting electrical impulses normally, causing heart rhythm disturbances (irregular heartbeats that may result in fainting or cardiac arrest). The disease prevalence is estimated at close to one in 2, 500 live births. LQTS can be treated and sudden death can be prevented when at-risk individuals can be identified.

• PASC meeting: 
  • 17 February 201
  • 13 - 14 April 2011
• ESC meeting: 9 - 10 February 2012
• MSAC meeting: -