Medicare Benefits Schedule - Item 73300

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.1.2, PN.7.16 of explanatory notes to this Category)

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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

Satisfying requirements described in pathology service 

Unless the contrary intention appears, a requirement contained in the description of a pathology service in Part 2 is satisfied if: 

(a)        for a requirement for information - the information:

(i)         is included in the request for the service; or

(ii)        was supplied in writing on an earlier occasion to the approved pathology authority that rendered the service, and has been kept by the approved pathology authority; or

(b)        for a requirement for laboratory test results - the results are:

(i)         included in the request for the service; or

(ii)        obtained from another laboratory test performed in the same patient episode; or

(iii)       included in results from an earlier laboratory test that have been kept by the approved pathology authority. 

Services Where Request Not Required 

A pathologist-determinable service is a pathology service: 

(a)        that is rendered by or on behalf of an approved pathology practitioner for a person who is a patient of that approved pathology practitioner who has determined that the service is necessary.

(b)        that is specified in item 73319, 73332, 73336, 73337, 73389, 73341, 73342, 73344, 73436, 73429 or only one immunohistochemistry items 72846, 72847, 72848, 72849, 72850 and 72860 or electronmicroscopy items 72851 and 72852 or immunocytochemistry items 73059, 73060 or 73061, and 73364 to 73383 or biomarker testing items 73437 to 73439 and is considered necessary by the approved pathology practitioner as a consequence of information resulting from a pathology service contained in tissue examination items 72813 to 72838 or cytology items 73045 to 73051 respectively. 

Please note: a written request is required for a service contained in items 72813 to 72838 and items 73045 to 73051. 

(c)        that is specified in one of the antigen detection items 69494, 69495 or 69496 is considered necessary by the approved pathology practitioner as a consequence of information provided by the requesting practitioner or by the nature or appearance of the specimen or as a consequence of information resulting from a pathology service contained in items 69303, 69306, 69312, 69318, 69321 and 69345.  

Please note: a written request is required for a service contained in items 69303, 69306, 69312, 69318, 69321 and 69345. 

(d)        that is specified in item 73320, HLA-B27 typing by nucleic acid amplification, and is considered necessary by the approved pathology practitioner because the results of HLA-B27 typing described in item 71147 are unsatisfactory. 

(e)         that is specified in item 73305, detection of mutation of the FMRI gene by Southern Blot analysis where the results in item 73300 are inconclusive.

(f)         that is specified in alpha thalassaemia genetic testing items 73411, 73412 or 73413 and is considered necessary by the approved pathology practitioner because the results of testing described in item 73410 were inconclusive. 

(g)        that is specified in item 66839, rendered in the same patient episode as a service to which item 66838 applies if the result of that service is inconclusive or abnormal

(h)        that is specified in item 66842, where the patient obtained inconclusive results from a service described in item 66839

Related Items: 66838 66839 66842 69303 69306 69312 69318 69321 69345 69494 69495 69496 71147 72813 72838 72846 72847 72848 72849 72850 72851 72852 72860 73045 73051 73059 73060 73061 73300 73305 73319 73320 73332 73336 73337 73342 73344 73364 73383 73389 73410 73411 73412 73413 73429 73436 73437 73438 73439

MBS items 73451 and 73452

Fragile X syndrome (FXS) is inherited in an X-linked dominant fashion.

The sex chromosomal pattern of a patient determines the likelihood of being a genetic carrier of FXS and the risk of FXS carriers passing on a variant(s) in the FMR1 gene that would cause their child to be born with the condition. Patients with certain sex chromosomal patterns have no risk of influencing whether their child is born with FXS, regardless of whether they are a carrier of the condition.

The intent of MBS item 73451 is to test a patient who:

(a) is either planning a pregnancy or is already pregnant; and
(b) if found to be a genetic carrier of fragile X syndrome, is at risk of passing on a variant(s) in the FMR1 gene that would cause their child to be born with the condition

The intent of MBS item 73452 is to test a patient who:

(a) is the reproductive partner of the patient planning pregnancy or already pregnant tested under item 73451.
(b) is not at risk of passing on a variant(s) in the FMR1 gene that would cause their child to be born with fragile X syndrome, regardless of whether they are a genetic carrier of the condition
 

The patient who is planning pregnancy or already pregnant must be tested first under MBS item 73451 prior to testing the reproductive partner patient under MBS item 73452, to ensure an informative and clinically relevant test result is obtained in the FMR1 gene.

MBS item 73451

The laboratory used to undertake reproductive carrier testing under item 73451 should use a methodology appropriate to the clinical setting with:

(a) sufficient diagnostic range and sensitivity to detect at least 95% of pathogenic variants likely to be present in the patient; and
(b) at least 50 of the most frequently encountered cystic fibrosis transmembrane conductance regulator variants in the Australian population.

Related Items: 73300 73305 73345 73346 73347 73348 73349 73350 73451 73452