Medicare Benefits Schedule - Note PN.7.16

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

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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)

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)

Testing of a patient for pathogenic cystic fibrosis transmembrane conductance regulator variants for the purpose of investigating, making or excluding a diagnosis of cystic fibrosis or a cystic fibrosis transmembrane conductance regulator related disorder when requested by a specialist or consultant physician who manages the treatment of the patient, not being a service associated with a service to which item 73347, 73348, or 73349 applies.

The patient must have clinical or laboratory findings suggesting there is a high probability suggestive of cystic fibrosis or a cystic fibrosis transmembrane conductance regulator related disorder.

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

(See para PN.7.3, PN.7.16 of explanatory notes to this Category)

Testing of a pregnant patient whose carrier status for pathogenic cystic fibrosis transmembrane conductance regulator variants, as well as their reproductive partner carrier status is unknown, for the purpose of determining whether pathogenic cystic fibrosis transmembrane conductance regulator variants are present in the fetus, in order to make or exclude a diagnosis of cystic fibrosis or a cystic fibrosis transmembrane conductance regulator related disorder in the fetus when requested by a specialist or consultant physician who manages the treatment of the patient, not being a service associated with a service to which item 73350 applies.

The fetus must have ultrasonic findings of echogenic gut, with unknown familial cystic fibrosis transmembrane conductance regulator variants.

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

(See para PN.7.3, PN.7.16 of explanatory notes to this Category)

Testing of a prospective parent for pathogenic cystic fibrosis transmembrane conductance regulator variants for the purpose of determining the risk of their fetus having pathogenic cystic fibrosis transmembrane conductance regulator variants. This is indicated when the fetus has ultrasonic evidence of echogenic gut when requested by a specialist or consultant physician who manages the treatment of the patient, not being a service associated with a service to which item 73345, 73348, or 73349 applies.

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

(See para PN.7.3, PN.7.16 of explanatory notes to this Category)

Testing of a patient with a laboratory-established family history of pathogenic cystic fibrosis transmembrane conductance regulator variants, for the purpose of determining whether the patient is an asymptomatic genetic carrier of the pathogenic cystic fibrosis transmembrane conductance regulator variants that have been laboratory established in the family history, not being a service associated with a service to which item 73345, 73347, or 73349 applies.

The patient must have a positive family history, confirmed by laboratory findings of pathogenic cystic fibrosis transmembrane conductance regulator variants, with a personal risk of being a heterozygous genetic carrier of at least 6%. (This includes family relatedness of: parents, children, full-siblings, half-siblings, grand-parents, grandchildren, aunts, uncles, first cousins, and first cousins once-removed, but excludes relatedness of second cousins or more distant relationships).

Fee: $250.00 Benefit: 75% = $187.50 85% = $212.50

(See para PN.7.3, PN.7.16 of explanatory notes to this Category)

Testing of a patient for pathogenic cystic fibrosis transmembrane conductance regulator variants for the purpose of determining the reproductive risk of the patient with their reproductive partner because their reproductive partner is already known to have pathogenic cystic fibrosis transmembrane conductance regulator variants requested by a specialist or consultant physician who manages the treatment of the patient, not being a service associated with a service to which item 73345, 73347, or 73348 applies.

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

(See para PN.7.3, PN.7.16 of explanatory notes to this Category)

Testing of a pregnant patient, where one or both prospective parents are known to be a genetic carrier of pathogenic cystic fibrosis transmembrane conductance regulator variants for the purpose of determining whether pathogenic cystic fibrosis transmembrane conductance regulator variants are present in the fetus in order to make or exclude a diagnosis of cystic fibrosis or a cystic fibrosis transmembrane conductance regulator related disorder in the fetus, when requested by a specialist or consultant physician who manages the treatment of the patient, not being a service associated with a service to which item 73346 applies.

The fetus must be at 25% or more risk of cystic fibrosis or a cystic fibrosis transmembrane conductance regulator related disorder because of known familial cystic fibrosis transmembrane conductance regulator variants.   

Fee: $250.00 Benefit: 75% = $187.50 85% = $212.50

(See para PN.7.3, PN.7.16 of explanatory notes to this Category)

Testing of a patient who is pregnant, or planning pregnancy, to identify carrier status for pathogenic or likely pathogenic variants in the following genes, for the purpose of determining reproductive risk of cystic fibrosis, spinal muscular atrophy or fragile X syndrome:

1. CFTR;
2. SMN1;
3. FMR1

One test per lifetime.

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

(See para PN.7.16 of explanatory notes to this Category)

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

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

(See para PN.7.16 of explanatory notes to this Category)