Genetic carrier testing for fragile X syndrome (FXS)

  • FXS is the most common known cause of inherited intellectual disability.
  • About 1 in 3600 males and 1 in 4000 females have FXS.
  • About 1 in 150 females are carriers of FXS and are at risk of having a child with FXS.
  • You do not need to have a family history of FXS or intellectual disability to be a carrier of FXS.
  • A genetic (DNA) test is available that can tell you if you are a carrier of FXS.

The Fragile X Syndrome Carrier Screening Study

  • Genetic carrier testing for FXS is being offered to Victorian women over 18 years of age who are either not currently pregnant or are less than 12 weeks pregnant as part of a research study.
  • This research study is a collaborative study directed primarily through the Murdoch Childrens Research Institute and The University of Melbourne.
  • By taking part in this study you will be helping us to work out whether to offer future genetic carrier testing services to more people in the community.
  • You do not have to have the genetic test to take part in the study. We are interested in the opinions of women who choose not to have testing as well as those who choose to have testing.
  • The aim of this web site is to provide more detailed information for women who are participating or considering participating in the fragile X syndrome carrier screening study.

Click here to find out more about the Murdoch Childrens Research Institute.

This study is also supported by the Apex Foundation, the Shepherd Foundation and a National Health and Medical Research Council Project Grant (607320).