Applications

1598 – Genetic testing for diagnosis of inheritable cardiac rhythm disorders

Find out about the service or technology in this application and the medical condition it addresses. You can also view the application documents, the deadlines for providing consultation input and the outcome of the application when the MSAC process is complete.

  • Status Complete
  • Type -
  • Pre-PASC consultation -
  • Pre-MSAC consultation -
  • Outcome Supported

Application details

Reason for application

New MBS item.

Service or technology in this application

Genetic testing of inherited cardiac arrhythmia disorders, through examining the following genes:

KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CACNA1C, RYR2, CASQ2, CAV3, SCN4B, AKAP9, SNTA1, KCNJ5, ALG10, CALM1, CALM2, ANK2, TECRL, and TRDN

Testing is conducted for clinically-affected individuals, to make a genetic diagnosis and thus estimate their predisposition for future risk of further disease. Where appropriate, cascade testing is also offered to family members, for any individuals who test positive to one or more relevant mutations, to make a genetic diagnosis and thus estimate each family member’s predisposition to future risk of developing the clinical disease (and, less commonly, future risk of further disease if the disease has already been diagnosed).

Type: Investigative

Medical condition this application addresses

Inherited arrhythmia syndromes or channelopathies: long QT syndromes (LQT1-LQT13), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia and Jervell and Lange-Nielsen syndrome.

Application documents

Meetings to consider this application

  • PASC meeting: 5 to 6 December 2019
  • ESC meeting: 8 to 9 October 2020
  • MSAC meeting: 26 to 27 November 2020