Medicare Benefits Schedule - Item 73451

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 mental retardation 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

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

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

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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