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MBS Item numbers for genomic testing for childhood syndromes

What do Medicare item numbers 73358–73363 for genomic testing mean for families?

From May 1 2020 some genomic tests for intellectual disability and childhood syndromes have been given a Medicare item. This means that some people can get genetic testing through their paediatrician without needing a separate appointment at a genetic clinic. In order to have a test covered by Medicare there is still a requirement for a consultation between a paediatrician and a clinical geneticist before arranging testing. A paediatrician can contact a local genetic service for more information.

Who can get the Medicare rebate for genomic testing?
To be eligible for the rebate, a child must be less than 10 years old, and are likely to have a genetic condition.

They must also have:

  • Specific physical features, developmental delay and/or learning disability of at least moderate severity, AND
  • Already had a test called a chromosome microarray (Medicare item number 73292). The item number must have been applied in order to access genomic testing under Medicare item numbers (73358 - 73363)

Are any other tests needed before genomic testing can be ordered?Ideally, other screening tests should also have been carried out previously, to rule out conditions that can cause the same symptoms. These tests are:
Fragile X syndrome testing (Medicare item number 73300)
Urine metabolic screening (Medicare item number 66756)

How is the test performed?
Genomic testing requires a DNA sample. This is usually collected from a blood sample or sometimes from a cheek swab.

Who is tested?

  • Testing should be performed on the person in the family most likely to have the condition.
  • Testing both biological parents at the same time as their child is called ‘trio’ testing, and can help the lab to give a faster and more informative (useful) result.

How to get genomic testing?

  • Through a paediatrician. A paediatrician can check whether a child meets the criteria for this testing.
  • Referral to a local genetic service. Sometimes a clinical genetics service may offer genomic testing even if Medicare criteria are not fulfilled, and there is a clinical reason to do the test
  • Families will be asked to give informed consent. This means that after talking about the test, possible results, and what the results could mean parents may be asked to sign a consent form if they choose to have the test.



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