Description of Medical ServiceDiagnostic 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 ConditionCardiomyopathies 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 ApplicationNew MBS item
Medical Service Type-
Previous Application Number/sNot Applicable
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