Is Fragile X testing covered by Medicare?

Fragile X DNA testing is funded by Medicare under the following conditions:

  • Medicare item 73300 in the following circumstances: detection of genetic mutation of the FMR1 gene by nucleic acid amplification (NAA) where:
  • (a) The patient exhibits intellectual disabilities, ataxia, neurodegeneration, or premature ovarian failure consistent with a FMR1 mutation; or
  • (b) The patient has a relative with the FMR1 mutation.
  • Medicare item 73305: Detection of genetic mutation of the FMR1 gene southern blot where the results in item 73300 are inconclusive.The name of the test is DNA Studies for Fragile X syndrome. 
  • From 1 November 2023: Medicare item 73451 – reproductive carrier testing for Fragile X, Cystic Fibrosis, Spinal Muscular Atrophy (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)


Please check with Medicare if you have any concerns.


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The spectacular Bridge to Beach paddle race raises funds to help us support, connect and advocate for families around Australia! You can make a difference for the Fragile X community by making a donation to our Bridge to Beach campaign today! Donations of $2.00 and over are tax deductible.

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