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 itemMedical Service Type
InvestigativePrevious Application Number/s
Not ApplicableAssociated Documentation
Application Form
-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
PICO Confirmation (PDF 1960 KB)PICO Confirmation (Word 430 KB)
Assessment Report
-Public Summary Document
Public Summary Document (PDF 756 KB)Public Summary Document (Word 395 KB)