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Genetic carrier testing


  • Accurate genetic (DNA) testing is available that can measures the length of the gene that causes fragile X syndrome to see if an individual is a carrier of fragile X syndrome.
  • The DNA sample comes from cells from your mouth. Collecting the cells that are present in your saliva is painless and is done by you at home. You then post the sample to the laboratory for analysis.
  • Positive or inconclusive test results will be confirmed with a blood test.
  • It is best to have the genetic test either before pregnancy, or early in pregnancy, so that you have enough time to make decisions about family planning.
  • The results of the genetic test will usually be available within 1 month.
  • Genetic testing is free of charge if you are part of a research study. If you are not part of a study there is a cost for the test.

If you are part of the research study and have decided to have the genetic carrier test you will need to do the following:

  • Fill out the genetic carrier test for fragile X syndrome consent form.
  • Collect your saliva sample using the supplied kit. Click here for instructions.
  • Post the consent form, saliva kit (and questionnaire) using the reply paid envelope by regular mail.

The collected samples will be tested in the laboratory to find out the length of the gene associated with fragile X syndrome. We will only test the gene associated with fragile X syndrome. The results of the test will be kept completely confidential.