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Category 6 - PATHOLOGY SERVICES
PN.0.27
Germline gene mutation tests (Items 73416 and 73392)
Genomic testing methods for future re-analysis
Items 73416 and 73392
The rapidly expanding field of genomic medicine has resulted in recognition of an increasing number of genetic causes of cardiac diseases. Use of genomic testing methods that permit reanalysis of existing data for variants in newly described clinically relevant genes are recommended/encouraged.
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Category 6 - PATHOLOGY SERVICES
73392 - Additional Information
Characterisation of pathogenic or likely pathogenic germline gene variants, requested by a specialist or consultant physician:
(a) in at least the following genes:
(i) MYBPC3;
(ii) MYH7;
(iii) TNNI3;
(iv) TNNT2;
(v) TPM1;
(vi) ACTC1;
(vii) MYL2;
(viii) MYL3;
(ix) PRKAG2;
(x) LAMP2;
(xi) GLA;
(xii) LMNA;
(xiii) SCN5A;
(xiv) TTN;
(xv) RBM20;
(xvi) PLN;
(xvii) DSP;
(xviii) DSC2;
(xix) DSG2;
(xx) JUP;
(xxi) PKP2;
(xxii) TMEM43; and
(b) for a patient for whom clinical history, family history or laboratory findings suggest there is a high probability of one or more of the following heritable cardiomyopathies in the patient:
(i) hypertrophic cardiomyopathy;
(ii) dilated cardiomyopathy;
(iii) arrhythmogenic cardiomyopathy
Applicable once per lifetime
Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,097.60
(See para PN.0.23, PN.0.27 of explanatory notes to this Category)
Category 6 - PATHOLOGY SERVICES
73416 - Additional Information
Detection of germline gene variants, including copy number variation, requested by a specialist or consultant physician:
(a) in at least the following genes:
(i) KCNQ1;
(ii) KCNH2;
(iii) SCN5A;
(iv) KCNE1;
(v) KCNE2;
(vi) KCNJ2;
(vii) CACNA1C;
(viii) RYR2;
(ix) CASQ2;
(x) CAV3;
(xi) SCN4B;
(xii) AKAP9;
(xiii) SNTA1;
(xiv) KCNJ5;
(xv) ALG10;
(xvi) CALM1;
(xvii) CALM2;
(xviii) ANK2;
(xix) TECRL;
(xx) TRDN; and
(b) for a patient for whom clinical or family history criteria is suggestive of inherited cardiac arrhythmias or channelopathies that place the patient at greater than 10% risk of having a pathogenic variant
Applicable once per lifetime
Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,097.60
(See para PN.0.23, PN.0.27 of explanatory notes to this Category)
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- Anaes - Anaesthetic Values Amended
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- Renum - Item Number Change (renumbered)
- New - New Item
- NewMin - New Item (previous Ministerial Determination)
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