Description of Medical ServiceGenetic 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 ConditionInherited arrhythmia syndromes or channelopathies: long QT syndromes (LQT1-LQT13), Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia and Jervell and Lange-Nielsen syndrome.
Reason for ApplicationNew MBS item
Medical Service TypeInvestigative
Previous Application Number/sNot Applicable
Consultation SurveyFeedback 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 ConfirmationPICO Confirmation (PDF 1960 KB)
PICO Confirmation (Word 430 KB)