1599 - Genetic testing for the diagnosis of cardiomyopathies

Page last updated: 25 September 2019

Application Detail

Description of Medical Service

Diagnostic genetic testing of affected individuals: Characterisation of germline gene variants for inherited cardiomyopathies, in patients where clinical criteria or a family history indicate genetic testing is warranted.

HCM: MYBPC3, MYH7, TNNI3, TNNT2, TPM1, ACTC1, MYL2, MYL3 plus “mimic” genes PRKAG2, LAMP2, GLA.
DCM: LMNA, SCN5A, TTN, RBM20, PLN, DSP, MYH7.
ARVC: DSC2, DSG2, DSP, JUP, PKP2, and TMEM43.

Predictive genetic testing of family members: Detection of a clinically-actionable pathogenic variant, previously identified in a first-degree relative. Variant-specific genetic testing is recommended for family members and appropriate relatives, following the identification of causative variant in an index case, after clinical evaluation by a cardiologist.

Description of Medical Condition

Cardiomyopathies comprise a small group of related, but clinically-distinct, primary diseases of the heart muscle, and are one of the major causes of sudden cardiac death and/or progressive heart failure. The most common cardiomyopathies are usually inherited as autosomal-dominant, and include hypertrophic cardiomyopathy, dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. The phenotypic spectrum of many inherited cardiomyopathies can be varied, and in some cases sub-classification by genotype is increasingly a more clinically useful approach (i.e. LMNA-cardiomyopathy). In many cases, clinical management will not change for patients with a positive genetic diagnosis; however, identification of variant negative family members will represent significant savings to the health system, by reducing the number of patients who require ongoing clinical monitoring.

Reason for Application

New MBS item

Medical Service Type

-

Previous Application Number/s

Not Applicable

Associated Documentation

Application Form

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Consultation Survey

Consultation Survey (PDF 486 KB)
Consultation Survey (Word 70 KB)

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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