Medicare Eligibility Criteria
Bulk-billed genetic carrier screening is now available to determine a couple’s combined risk of having a child with a genetic condition. Testing is available for all individuals, even those with no symptoms or family history. Male partners of the biologically female positive cases for CF or SMA (not FXS) are eligible for testing under Medicare cover. Please see below for specific Medicare criteria. Private fee may apply if criteria are not met.
New items 73451 and 73452
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 relevant gene.
73451
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:
a. CFTR;
b. SMN1;
c. FMR1.
One test per lifetime.
The intent of MBS item 73451 is to test an asymptomatic female chromosomal sex patient who is either planning a pregnancy or is already pregnant.
73452
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.
The intent of MBS item 73452 is to test an asymptomatic male chromosomal sex patient who is the reproductive partner of the patient planning pregnancy or already pregnant and has been tested under item 73451.