Medicare Benefits Schedule - Note PN.0.23

Prior to ordering these tests (73297, 73300, 73305, 73334, 73339, 73340, 73393, 73394, 73417 and 73418) the ordering practitioner should ensure the patient (or approximate proxy) has given informed consent. Testing should only be performed after genetic counselling. Appropriate genetic counselling should be provided to the patient either by the specialist treating practitioner, a genetic counselling service or a clinical geneticist on referral. Further counselling may be necessary upon receipt of the test results.

Related Items: 73297 73300 73305 73334 73339 73340 73393 73394 73417 73418

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Characterisation of germline gene variants, including copy number variation:

1. in one or more of the following genes:
   1. BRCA1;
   2. BRCA2;
   3. STK11;
   4. PTEN;
   5. CDH1;
   6. PALB2;
   7. TP53; and
2. in a patient who:
   1. is a biological relative of a patient who has had a pathogenic or likely pathogenic gene variant identified in one or more of the genes mentioned in paragraph (a); and
   2. has not previously received a service to which item 73295, 73296 or 73302 applies;

requested by a specialist or consultant physician

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

(See para PN.0.23 of explanatory notes to this Category)

Detection of mutation of the FMR1 gene where:

(a) the patient exhibits intellectual disability, ataxia, neurodegeneration, or premature ovarian failure consistent with an FMRI mutation; or

(b) the patient has a relative with a FMR1 mutation

1 or more tests

Fee: $101.30 Benefit: 75% = $76.00 85% = $86.15

(See para PN.0.23 of explanatory notes to this Category)

Detection of mutation of the FMR1 gene by Southern Blot analysis where the results in item 73300 are inconclusive

Fee: $202.65 Benefit: 75% = $152.00 85% = $172.30

(See para PN.0.23 of explanatory notes to this Category)

Detection of germline mutations of the von Hippel-Lindau (VHL) gene in biological relatives of a patient with a known mutation in the VHL gene

Fee: $340.00 Benefit: 75% = $255.00 85% = $289.00

(See para PN.0.23 of explanatory notes to this Category)

Detection of germline mutations in the RET gene in patients with a suspected clinical diagnosis of multiple endocrine neoplasia type 2 (MEN2) requested by a specialist or consultant physician who manages the treatment of the patient.

One test.  (Item is  subject to rule 25)

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

(See para PN.0.23 of explanatory notes to this Category)

Detection of a known mutation in the RET gene in an asymptomatic relative of a patient with a documented pathogenic germline RET mutation requested by a specialist or consultant physician who manages the treatment of the patient.

One test.  (Item is subject to rule 25)

Fee: $200.00 Benefit: 75% = $150.00 85% = $170.00

(See para PN.0.23 of explanatory notes to this Category)

Characterisation of one or more pathogenic or likely pathogenic germline gene variants, requested by a specialist or consultant physician, if:

(a) a service described in item 73392 has not previously been performed for the patient; and

(b) the patient is a first-degree biological relative (or a second-degree biological relative if a first-degree biological relative is unavailable) of a person who has a pathogenic or likely pathogenic germline gene variant that is confirmed by laboratory findings; and

(c) the service is performed for the purpose of assessing present or future risk of any of the following heritable cardiomyopathies in the patient:

(i) hypertrophic cardiomyopathy;

(ii) dilated cardiomyopathy;

(iii) arrhythmogenic cardiomyopathy

Applicable once per variant per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

(See para PN.0.23 of explanatory notes to this Category)

Characterisation of one or more recessive pathogenic or likely pathogenic germline genes, requested by a specialist or consultant physician, for the purpose of determining the reproductive risk of heritable cardiomyopathy in a patient:

(a) who is a reproductive partner of a known carrier of a pathogenic or likely pathogenic germline gene that is confirmed by laboratory findings ; and

(b) for whom carrier status of a pathogenic or likely pathogenic germline gene is unknown; and

(c) who has a clinical history, family history or laboratory findings suggesting there is a low probability of heritable cardiomyopathy

Applicable once per gene per lifetime

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,112.10

(See para PN.0.23 of explanatory notes to this Category)

Characterisation of one or more pathogenic or likely pathogenic germline gene variants, requested by a specialist or consultant physician, if:

(a) the patient is a first-degree or second‑degree biological relative of a person with a pathogenic or likely pathogenic germline gene variant that is confirmed by laboratory findings; and

(b) the service is performed for the purpose of assessing present or future risk of a cardiac arrhythmia or channelopathy; and

(c) a service to which item 73416 applies has not previously been performed for the patient

Applicable once per variant per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

(See para PN.0.23 of explanatory notes to this Category)

Characterisation of one or more recessive pathogenic or likely pathogenic germline genes, requested by a specialist or consultant physician, for the purpose of determining the reproductive risk of cardiac arrhythmia or channelopathy in a patient:

(a) who is a reproductive partner of a person who is a known carrier of a pathogenic or likely pathogenic germline gene variant of a gene confirmed by laboratory findings; and

(b) for whom a service to which item 73416 applies has not previously been performed; and

(c) for whom carrier status of a pathogenic or likely pathogenic germline gene variant is unknown; and

(d) who has a clinical history, family history or laboratory findings suggesting there is a low probability of cardiac arrhythmia or channelopathy

Applicable once per variant per lifetime

Fee: $400.00 Benefit: 75% = $300.00 85% = $340.00

(See para PN.0.23 of explanatory notes to this Category)