MBS Item Tracker

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

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 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

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

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

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

Characterisation of a variant or variants in a panel of at least 25 genes using DNA and RNA, requested by a specialist or consultant physician, to determine the diagnosis, prognosis and/or management of a patient presenting with a clinically suspected haematological malignancy of myeloid origin Applicable once per diagnostic episode, at diagnosis, disease progression or relapse

Characterisation of a variant or variants in a panel of at least 25 genes using DNA and RNA, requested by a specialist or consultant physician, to determine the diagnosis, prognosis and/or management of a patient presenting with a clinically suspected haematological malignancy of lymphoid origin Applicable once per diagnostic episode, at diagnosis, disease progression or relapse

Characterisation of a variant or variants in a panel of at least 25 genes using DNA, requested by a specialist or consultant physician, to determine the diagnosis, prognosis and/or management of a patient presenting with a clinically suspected haematological malignancy of myeloid origin Applicable once per diagnostic episode, at diagnosis, disease progression or relapse

Characterisation of a variant or variants in a panel of at least 25 genes using DNA, requested by a specialist or consultant physician, to determine the diagnosis, prognosis and/or management of a patient presenting with a clinically suspected haematological malignancy of lymphoid origin Applicable once per diagnostic episode, at diagnosis, disease progression or relapse

Testing of a patient (who is pregnant or planning pregnancy) to identify carrier status for pathogenic or likely pathogenic variants in a gene mentioned in paragraph (a), (b) or (c), to determine: (a) for the cystic fibrosis transmembrane conductance regulator (CFTR) gene—reproductive risk of cystic fibrosis; (b) for the survival motor neuron 1 (SMN1) gene—reproductive risk of spinal muscular atrophy; (c) for the fragile X messenger ribonucleoprotein 1 (FMR1) gene—reproductive risk of fragile X syndrome; (other than a service associated with a service to which item 73300, 73305, 73345, 73346, 73347, 73348, 73349 or 73350 applies) One test per lifetime

Testing of the reproductive partner of a patient who has been found to be a carrier of a pathogenic or likely pathogenic variant in the CFTR or SMN1 gene identified by testing under item 73451, for the purpose of determining the couple’s reproductive risk of cystic fibrosis or spinal muscular atrophy One test per condition per lifetime

Characterisation of germline pathogenic or likely pathogenic gene variants: (a) in at least the following genes: (i) ASPA; (ii) BLM; (iii) CFTR; (iv) ELP1; (v) FANCA; (vi) FANCC; (vii) FANCG; (viii) FMR1; (ix) G6PC1; (x) GBA1; (xi) HEXA; (xii) MCOLN1; (xiii) SLC37A4; (xiv) SMN1; (xv) SMPD1; and (b) in a patient of reproductive age who is of Ashkenazi Jewish descent for the purpose of ascertaining the patient’s carrier status for the following: (i) Bloom syndrome (ii) Canavan disease (iii) Cystic fibrosis (iv) Familial dysautonomia (v) Fanconi anaemia type C (vi) Fragile-X syndrome (vii) Gaucher disease (viii) Glycogen storage disease type I (ix) Mucolipidosis type IV (x) Niemann-Pick disease type A 7 (xi) Spinal muscular atrophy (xii) Tay-Sachs disease Applicable once per lifetime

Whole gene sequencing of a gene or genes described in item 73453, in a patient who is the reproductive partner of an individual who is affected by, or is a known genetic carrier of, one or more conditions described in item 73453 (other than cystic fibrosis, fragile‑X syndrome or spinal muscular atrophy), for the purpose of determining the couple’s combined reproductive risk of the conditions, if: (a) the patient is not eligible for a service to which item 73453 applies; and (b) the patient has not received a service to which item 73453 applies; and (c) the patient has not received a service to which this item applies for the purpose of determining the patient’s reproductive risk with the patient’s current reproductive partner Applicable once per couple per lifetime

Testing of a pregnant patient, if at least one prospective parent is known to be affected by, or is a genetic carrier of, one or more conditions described in item 73453, for the purpose of determining whether a familial variant or variants are present in the fetus, if: (a) the testing is requested by a specialist or consultant physician; and (b) there is at least a 25% risk of the fetus inheriting a condition described in paragraph (b) of item 73453

Characterisation by whole genome sequencing, or by either or both whole exome sequencing and mitochondrial DNA sequencing, of germline variants present in nuclear DNA and in mitochondrial DNA of a patient with a strong suspicion of a mitochondrial disease, if: (a) the characterisation is requested by a specialist or consultant physician; and (b) the characterisation is requested because of the onset of one or more clinical features indicative of mitochondrial disease, including at least one or more of the following: (i) meeting the clinical criteria of a probable indicator of mitochondrial disease on a relevant scoring system; (ii) evident mitochondrial dysfunction or decompensation; (iii) unexplained hypotonia or weakness, profound hypoglycaemia or “failure to thrive” in the presence of a metabolic acidosis; (iv) unexplained single or multi-organ dysfunction or fulminant failure (including, but not limited to, neuropathies, myopathies, hepatopathy, pancreatic and/or bone marrow failure); (v) refractory or atypical seizures, developmental delays or cognitive regression, or progressive encephalopathy or progressive encephalomyopathy; (vi) cardiomyopathy and/or cardiac arrythmias; (vii) rapid hearing or painless visual loss or ptosis; (viii) stroke-like episodes or nonvasculitic strokes; (ix) ataxia, encephalopathy, seizures, muscle fatigue or weakness; (x) external ophthalmoplegia; (xi) hearing loss, diabetes, unexplained short stature, or endocrinopathy; (xii) family history of mitochondrial disease, or any of the above; and (c) the service is not a service associated with a service to which item 73358, 73359 or 73457 applies Applicable only once per lifetime

Characterisation by whole genome sequencing, or either or both whole exome sequencing and mitochondrial DNA sequencing, of germline variants present in nuclear DNA and in mitochondrial DNA, of a patient with a strong suspicion of a mitochondrial disease, if: (a) the characterisation is performed using a sample from the patient and a sample from each of the patient’s biological parents; and (b) the request for the characterisation states that singleton testing is inappropriate; and (c) the characterisation is requested by a specialist or consultant physician; and (d) the characterisation is requested because of the onset of one or more clinical features indicative of mitochondrial disease, including at least one or more of the following: (i) meeting the clinical criteria of a probable indicator of mitochondrial disease on a relevant scoring system; (ii) evident mitochondrial dysfunction or decompensation; (iii) unexplained hypotonia or weakness, profound hypoglycaemia or “failure to thrive” in the presence of a metabolic acidosis; (iv) unexplained single or multi-organ dysfunction or fulminant failure (including, but not limited to, neuropathies, myopathies, hepatopathy, pancreatic and/or bone marrow failure); (v) refractory or atypical seizures, developmental delays or cognitive regression, or progressive encephalopathy or progressive encephalomyopathy; (vi) cardiomyopathy and/or cardiac arrythmias; (vii) rapid hearing or painless visual loss or ptosis; (viii) stroke-like episodes or nonvasculitic strokes; (ix) ataxia, encephalopathy, seizures, muscle fatigue or weakness; (x) external ophthalmoplegia; (xi) hearing loss, diabetes, unexplained short stature, or endocrinopathy; (xii) family history of mitochondrial disease; and (e) the service is not a service associated with a service to which item 73358, 73359 or 73456 applies Applicable only once per lifetime

Re-analysis of whole genome or whole exome or mitochondrial DNA data obtained in performing a service to which item 73456 or 73457 applies, for characterisation of previously unreported germline variants related to the clinical phenotype, if: (a) the re-analysis is requested by a specialist or consultant physician; and (b) the patient is strongly suspected of having a monogenic mitochondrial disease; and (c) the re-analysis is performed at least 24 months after: (i) the service to which item 73456 or 73457 applies; or (ii) a service to which this item applies Applicable twice per lifetime

Testing for diagnostic purposes of a pregnant patient, for detection in the fetus of a gene variant or variants present in the parents, if: (a) the gene variant or variants are: (i) a variant or variants in the mitochondrial genome identified in the oocyte donating parent; or (ii) autosomal recessive variants identified in both biological parents within the same gene; or (iii) an autosomal dominant or X-linked variant identified in either biological parent; or (iv) identified in a biological sibling of the fetus; and (b) the causative variant or variants for the condition of the fetus’ first-degree relative have been confirmed by laboratory findings; and (c) the detection is requested by a specialist or consultant physician; and (d) the service is not a service associated with a service to which item 73361, 73362, 73363 or 73462 applies

Characterisation of mitochondrial DNA deletion or variant for diagnostic purposes in a patient suspected to have mitochondrial disease, if: (a) the characterisation is requested by the specialist or consultant physician managing the patient’s treatment; and (b) the patient displays onset of one or more clinical features indicative of mitochondrial disease, including at least one or more of the following: (i) meeting the clinical criteria of a probable indicator of mitochondrial disease on a relevant scoring system; (ii) evident mitochondrial dysfunction or decompensation; (iii) unexplained hypotonia or weakness, profound hypoglycaemia or ‘failure to thrive’ in the presence of a metabolic acidosis; (iv) unexplained single or multi-organ dysfunction or fulminant failure (including, but not limited to, neuropathies, myopathies, hepatopathy, pancreatic and/or bone marrow failure); (v) refractory or atypical seizures, developmental delays or cognitive regression, or progressive encephalopathy or progressive encephalomyopathy; (vi) cardiomyopathy and/or cardiac arrythmias; (vii) rapid hearing or painless visual loss or ptosis; (viii) stroke-like episodes or nonvasculitic strokes; (ix) ataxia, encephalopathy, seizures, muscle fatigue or weakness; (x) external ophthalmoplegia; (xi) hearing loss, diabetes, unexplained short stature, or endocrinopathy; (xii) family history of mitochondrial disease; and (c) the service is performed following a service to which items 73292, 73358, 73359, 73456 or 73457 applies for the same patient if the results were non-informativeApplicable 3 times per lifetime

Whole gene testing of a person for the characterisation of all germline gene variants within the same gene in which the person’s reproductive partner has a pathogenic or likely pathogenic germline recessive gene variant for mitochondrial disease, if: (a) the partner’s germline recessive gene variant is confirmed by laboratory findings; and (b) the characterisation is requested by a specialist or consultant physician

Testing of a person for the detection of a single gene variant, if: (a) the person tested has a biological relative with a known pathogenic or likely pathogenic mitochondrial disease variant confirmed by laboratory findings; and (b) the testing is requested by a specialist or consultant physician; and (c) the service is not a service associated with a service to which item 73361, 73362 or 73363 applies

Semen examination for presence of spermatozoa or examination of cervical mucus for spermatozoa (Huhner's test)

Semen examination (other than post-vasectomy semen examination), including: (a) measurement of volume, sperm count and motility; and (b) examination of stained preparations; and (c) morphology; and (if performed) (d) differential count and 1 or more chemical tests; (Item is subject to rule 25)

Sperm antibodies - sperm-penetrating ability - 1 or more tests

Human chorionic gonadotrophin (HCG) - detection in serum or urine by 1 or more methods for diagnosis of pregnancy - 1 or more tests

Human chorionic gonadotrophin (HCG), quantitation in serum by 1 or more methods (except by latex, membrane, strip or other pregnancy test kit) for diagnosis of threatened abortion, or follow up of abortion or diagnosis of ectopic pregnancy, including any services performed in item 73527 - 1 test

Semen examination for presence of spermatozoa

Leucocyte count, erythrocyte sedimentation rate, examination of blood film (including differential leucocyte count), haemoglobin, haematocrit or erythrocyte count - 1 test

2 tests described in item 73802

3 or more tests described in item 73802

Microscopy of urine, excluding dipstick testing.

Pregnancy test by 1 or more immunochemical methods

Microscopy for wet film other than urine, including any relevant stain

Microscopy of Gram-stained film, including (if performed) a service described in item 73805 or 73807

Chemical tests for occult blood in faeces by reagent stick, strip, tablet or similar method

Microscopy for fungi in skin, hair or nails - 1 or more sites

Mantoux test

Quantitation of glycated haemoglobin (HbA1c) performed in the management of established diabetes, if performed: (a) as a point‑of‑care test; and (b) by or on behalf of a medical practitioner who works in a general practice that is accredited to the Royal Australian College of General Practitioners Standards for point‑of-care testing under the National General Practice Accreditation Scheme; and (c) using a method certified by the National Glycohemoglobin Standardization Program (NGSP), if the instrumentation used has a total coefficient variation less than 3.0% at 48 mmol/mol (6.5%) Applicable not more than 3 times per 12 months per patient

Detection performed by, or on behalf of, a medical practitioner of: (a) chlamydia trachomatis (CT) and neisseria gonorrhoeae (NG) via molecular point-of-care testing for the diagnosis of CT or NG infection; and (b) trichomonas vaginalis (TV) via molecular point-of-care testing for the diagnosis of TV infection

Detection performed by a participating nurse practitioner of: (a) chlamydia trachomatis (CT) and neisseria gonorrhoeae (NG) via molecular point-of-care testing for the diagnosis of CT or NG infection; and (b) trichomonas vaginalis (TV) via molecular point-of-care testing for the diagnosis of TV infection

Quantitation of glycated haemoglobin (HbA1c) performed by a participating nurse practitioner in the management of established diabetes when performed: (a) as a point‑of‑care test; (b) by a nurse practitioner who works in a general practice that is accredited to the Royal Australian College of General Practitioners Standards for point-of-care testing under the National General Practice Accreditation Scheme; and (c) using a method and instrument certified by the National Glycohemoglobin Standardization Program (NGSP), if the instrument has a total coefficient variation less than 3.0% at 48 mmol/mol (6.5%) Applicable not more than 3 times per 12 months per patient

Semen examination for presence of spermatozoa by a participating nurse practitioner

Leucocyte count, erythrocyte sedimentation rate, examination of blood film (including differential leucocyte count), haemoglobin, haematocrit or erythrocyte count by a participating nurse practitioner - 1 test

2 tests described in item 73829 by a participating nurse practitioner

3 or more tests described in item 73829 by a participating nurse practitioner

Microscopy of urine, excluding dipstick testing by a participating nurse practitioner.

Pregnancy test by 1 or more immunochemical methods by a participating nurse practitioner

Microscopy for wet film other than urine, including any relevant stain by a participating nurse practitioner

Microscopy of Gram-stained film, including (if performed) a service described in item 73832 or 73834 by a participating nurse practitioner

Chemical tests for occult blood in faeces by reagent stick, strip, tablet or similar method by a participating nurse practitioner