Medicare Benefits Schedule - Note PN.0.23

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Category 6 - PATHOLOGY SERVICES

PN.0.23

Informed consent and genetic counselling for genetic tests

Items 73297, 73300, 73305, 73334, 73339, 73340, 73393, 73394, 73417, 73418, 73440, 73441, 73442, 73443, and 73444


Prior to ordering these tests the ordering practitioner should ensure the patient (or approximate proxy) has given written 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.

Items 73295, 73296, 73304, 73333, 73392, 73395, 73416 and 73419

Patients who are found to have any form of affected allele should be referred for post-test genetic counselling as there may be implications for other family members. 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.

Related Items: 73295 73296 73297 73300 73304 73305 73333 73334 73339 73340 73392 73393 73394 73395 73416 73417 73418 73419 73440 73441 73442 73443 73444


Related Items

Category 6 - PATHOLOGY SERVICES

73295

73295 - Additional Information

Item Start Date:
01-Sep-2022
Description Updated:
01-Sep-2022
Schedule Fee Updated:
01-Feb-2017

Detection of germline BRCA1 or BRCA2 pathogenic or likely pathogenic gene variants, in a patient with advanced (FIGO III-IV) high-grade serous or high-grade epithelial ovarian, fallopian tube or primary peritoneal cancer for whom testing of tumour tissue is not feasible, requested by a specialist or consultant physician, to determine eligibility for treatment with a poly (adenosine diphosphate [ADP]-ribose) polymerase (PARP) inhibitor under the Pharmaceutical Benefits Scheme (PBS) 

Maximum of one test per patient’s lifetime

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

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

Category 6 - PATHOLOGY SERVICES

73296

73296 - Additional Information

Item Start Date:
01-Nov-2017
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2017

Characterisation of germline gene variants, including copy number variation where appropriate, requested by a specialist or consultant physician:

(a) in genes associated with breast, ovarian, fallopian tube or primary peritoneal cancer, which must include at least:

(i) BRCA1 and BRCA 2 genes; and

(ii) one or more STK11, PTEN, CDH1, PALB2 and TP53 genes; and

(b) in a patient:

(i) with breast, ovarian, fallopian tube or primary peritoneal cancer; and

(ii) for whom clinical and family history criteria place the patient at greater than 10% risk of having a pathogenic or likely pathogenic gene associated with breast, ovarian, fallopian tube or primary peritoneal cancer

Once per cancer diagnosis

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

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

Category 6 - PATHOLOGY SERVICES

73297

73297 - Additional Information

Item Start Date:
01-Nov-2017
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2017

Characterisation of germline gene variants, including copy number variation where appropriate, requested by a specialist or consultant physician:

(a) in genes associated with breast, ovarian, fallopian tube or primary peritoneal cancer, which may include the following genes:

(i) BRCA1 or BRCA2;

(ii) STK11, PTEN, CDH1, PALB2 and TP53; and

(b) in a patient:

(i) who has a biological relative who has had a pathogenic or likely pathogenic gene variant identified in one or more of the genes mentioned in paragraph (a); or

(ii) who has not previously received a service to which item 73295, 73296 or 73302 applies

Once per variant

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

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

Category 6 - PATHOLOGY SERVICES

73300

73300 - Additional Information

Item Start Date:
01-May-2003
Description Updated:
01-May-2009
Schedule Fee Updated:
01-Jan-2013

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, PN.7.16 of explanatory notes to this Category)

Category 6 - PATHOLOGY SERVICES

73304

73304 - Additional Information

Item Start Date:
01-Apr-2022
Description Updated:
01-Apr-2022
Schedule Fee Updated:
01-Apr-2022

Detection of germline BRCA1 or BRCA2 pathogenic or likely pathogenic gene variants, in a patient with metastatic castration‑resistant prostate cancer, for whom testing of tumour tissue is not clinically feasible, requested by a specialist or consultant physician, to determine eligibility for olaparib under the Pharmaceutical Benefits Scheme.

Applicable once per lifetime

Fee: $1,000.00 Benefit: 75% = $750.00 85% = $901.30

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

Category 6 - PATHOLOGY SERVICES

73305

73305 - Additional Information

Item Start Date:
01-May-2003
Description Updated:
01-Nov-2008
Schedule Fee Updated:
01-Jan-2013

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, PN.7.16 of explanatory notes to this Category)

Category 6 - PATHOLOGY SERVICES

73333

73333 - Additional Information

Item Start Date:
01-Nov-2012
Description Updated:
31-Jan-2023
Schedule Fee Updated:
01-Nov-2012

Detection of germline mutations of the von Hippel‑Lindau (VHL) gene:

(a) in a patient who has a clinical diagnosis of VHL syndrome and:

(i) a family history of VHL syndrome and one of the following:

(A) haemangioblastoma (retinal or central nervous system);

(B) phaeochromocytoma;

(C) renal cell carcinoma; or

(ii) 2 or more haemangioblastomas; or

(iii) one haemangioblastoma and a tumour or a cyst of:

(A) the adrenal gland; or

(B) the kidney; or

(C) the pancreas; or

(D) the epididymis; or

(E) a broad ligament (other than epididymal and single renal cysts, which are common in the general population); or

(b) in a patient presenting with one or more of the following clinical features suggestive of VHL syndrome:

(i) haemangiblastomas of the brain, spinal cord, or retina;

(ii) phaeochromocytoma;

(iii) functional extra‑adrenal paraganglioma

Fee: $600.00 Benefit: 75% = $450.00 85% = $510.00

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

Category 6 - PATHOLOGY SERVICES

73334

73334 - Additional Information

Item Start Date:
01-Nov-2012
Description Updated:
01-Nov-2012
Schedule Fee Updated:
01-Nov-2012

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)

Category 6 - PATHOLOGY SERVICES

73339

73339 - Additional Information

Item Start Date:
01-Nov-2014
Description Updated:
01-Nov-2014
Schedule Fee Updated:
01-Nov-2014

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)

Category 6 - PATHOLOGY SERVICES

73340

73340 - Additional Information

Item Start Date:
01-Nov-2014
Description Updated:
01-Nov-2014
Schedule Fee Updated:
01-Nov-2014

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)

Category 6 - PATHOLOGY SERVICES

73392

73392 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Jul-2022
Schedule Fee Updated:
01-Jul-2022

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% = $1,101.30

(See para PN.0.23, PN.0.27 of explanatory notes to this Category)

Category 6 - PATHOLOGY SERVICES

73393

73393 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Jul-2022
Schedule Fee Updated:
01-Jul-2022

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)

Category 6 - PATHOLOGY SERVICES

73394

73394 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Jul-2022
Schedule Fee Updated:
01-Jul-2022

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% = $1,101.30

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

Category 6 - PATHOLOGY SERVICES

73395

73395 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Jul-2022
Schedule Fee Updated:
01-Jul-2022

Re‑analysis of whole exome or genome data that is obtained in performing a service to which item 73392 applies, for characterisation of previously unreported germline gene variants related to the clinical phenotype, if:

(a) the re-analysis is requested by a consultant physician practising as a clinical geneticist or a cardiologist; and

(b) the patient is strongly suspected of having a heritable cardiomyopathy; and

(c) the re-analysis is performed at least 18 months after a service to which item 73392 or this item applies is performed for the patient

Applicable twice per lifetime

Fee: $500.00 Benefit: 75% = $375.00 85% = $425.00

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

Category 6 - PATHOLOGY SERVICES

73416

73416 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Jul-2022
Schedule Fee Updated:
01-Jul-2022

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% = $1,101.30

(See para PN.0.23, PN.0.27 of explanatory notes to this Category)

Category 6 - PATHOLOGY SERVICES

73417

73417 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Jul-2022
Schedule Fee Updated:
01-Jul-2022

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)

Category 6 - PATHOLOGY SERVICES

73418

73418 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2023

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 gene per lifetime

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

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

Category 6 - PATHOLOGY SERVICES

73419

73419 - Additional Information

Item Start Date:
01-Jul-2022
Description Updated:
01-Jul-2022
Schedule Fee Updated:
01-Jul-2022

Re‑analysis of whole exome or genome data that was obtained in performing a service to which item 73416 applies, for characterisation of previously unreported germline gene variants related to the clinical phenotype, if:

(a) the re-analysis is requested by a consultant physician practising as a clinical geneticist or a cardiologist; and

(b) the patient is strongly suspected of having inheritable cardiac arrhythmia or channelopathies; and

(c) the service is performed at least 18 months after a service to which item 73416 or this item applies was performed for the patient

Applicable twice per lifetime

Fee: $500.00 Benefit: 75% = $375.00 85% = $425.00

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

Category 6 - PATHOLOGY SERVICES

73440

73440 - Additional Information

Item Start Date:
01-Nov-2023
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2023

Genomic testing and copy number variant analysis of genes known to be causative or likely causative of childhood hearing loss in a patient, if:
(a) the testing and analysis is requested by a specialist or consultant physician; and
(b) the patient has congenital or childhood onset hearing loss that presented before the patient was 18 years of age and is permanent moderate, severe, or profound (>40 dB in the worst ear over 3 frequencies) and classified as sensorineural, auditory neuropathy or mixed; and
(c) the patient is not eligible for a service to which item 73358 or 73359 applies; and
(d) the testing and analysis is not associated with a service to which item 73441 applies

Applicable once per lifetime

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

(See para PN.0.23, PN.7.13 of explanatory notes to this Category)

Category 6 - PATHOLOGY SERVICES

73441

73441 - Additional Information

Item Start Date:
01-Nov-2023
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2023

Genomic testing and copy number variant analysis of relevant genes known to be causative or likely causative of childhood hearing loss in a patient, if:
(a) the testing and analysis is requested by a specialist or consultant physician; and
(b) the patient has congenital or childhood onset hearing loss that presented before the patient was 18 years of age and is permanent bilateral moderate, severe, or profound (>40 dB in the worst ear over 3 frequencies) and classified as sensorineural, auditory neuropathy or mixed; and
(c) the testing and analysis is performed using a sample from the patient and a sample from each of the patient’s biological parents; and
(d) the patient is not eligible for a service to which item 73358 or 73359 applies; and
(e) the testing and analysis is not associated with a service to which item 73440 applies

Applicable once per lifetime

Fee: $2,100.00 Benefit: 75% = $1,575.00 85% = $2,001.30

(See para PN.0.23, PN.7.13 of explanatory notes to this Category)

Category 6 - PATHOLOGY SERVICES

73442

73442 - Additional Information

Item Start Date:
01-Nov-2023
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2023

Re-analysis of whole exome or genome data obtained under a service to which item 73440 or 73441 applies, for characterisation of previously unreported germline gene variants for childhood hearing loss in a patient, if:
(a) the re-analysis is requested by a specialist or consultant physician; and
(b) the re-analysis is performed at least 24 months after:
(i) the service to which items 73440 or 73441 applies has been provided to the patient; or
(ii) a service to which this item applies is performed for the patient

Applicable twice per lifetime

Fee: $500.00 Benefit: 75% = $375.00 85% = $425.00

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

Category 6 - PATHOLOGY SERVICES

73443

73443 - Additional Information

Item Start Date:
01-Nov-2023
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2023

Characterisation of one or more familial germline gene variants known to be causative or likely causative of childhood hearing loss in a person, if:
(a) the person tested is a biological relative of a patient with a germline gene variant known to be causative or likely causative of hearing loss confirmed by laboratory findings; and
(b) the result of a previous proband testing is made available to the laboratory undertaking the characterisation

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

(See para PN.0.23, PN.7.13 of explanatory notes to this Category)

Category 6 - PATHOLOGY SERVICES

73444

73444 - Additional Information

Item Start Date:
01-Nov-2023
Description Updated:
01-Nov-2023
Schedule Fee Updated:
01-Nov-2023

Characterisation of all germline variants in one or more genes known to cause hearing loss in a person, if:
(a) the characterisation is requested by a specialist or consultant physician; and
(b) the characterisation is for the reproductive partner of a patient with a pathogenic or likely pathogenic recessive germline gene variant known to cause hearing loss confirmed by laboratory findings; and
(c) the result of the patient’s previous testing is made available to the laboratory undertaking the characterisation

Fee: $1,200.00 Benefit: 75% = $900.00 85% = $1,101.30

(See para PN.0.23, PN.7.13 of explanatory notes to this Category)


Legend

  • Assist - Addition/Deletion of (Assist.)
  • Amend - Amended Description
  • Anaes - Anaesthetic Values Amended
  • Emsn - EMSN Change
  • Fee - Fee Amended
  • Renum - Item Number Change (renumbered)
  • New - New Item
  • NewMin - New Item (previous Ministerial Determination)
  • Qfe - QFE Change