1598 - Clinical utility card for inherited cardiac arrhythmia disorders

Page last updated: 17 October 2019

Application Detail

Description of Medical Service

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).

Description of Medical Condition

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

Reason for Application

New MBS item

Medical Service Type

Investigative

Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

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Consultation Survey

Feedback and comments are welcome at any stage during the MSAC process. Please provide comments on Application 1598 via a maximum of two A4 pages to HTA@health.gov.au (making sure that you type the application number at the start of your comments and in the subject heading of your email).

PICO Confirmation

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Assessment Report

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Public Summary Document

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Meetings for this Application

PASC

5-6 December 2019

ESC

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MSAC

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