One of the clinically approved tests for CS is called sequencing. In sequencing, the individual components of the PTEN gene are examined for a gene change known to be associated with CS. This test is very accurate, but only about 80 percent of people strictly meeting the criteria for CS have an identifiable gene change. This means that 20 percent of people who meet the criteria for CS will not have an identifiable gene change and will have a negative test result even though they do have CS. This could be due to a limitation in the test or it could be that the person does have CS, but the diagnosis is the result of a change in another gene that has not been identified yet.

Research labs are searching for new ways to test for changes in PTEN to better identify patients with CS. Your physician and genetic counselor can help you if you are interested in participating in a research study. Often in research all of the identifiers (name, etc.) are removed from a sample in order provide confidentiality for the participant and to prevent bias in the study. Therefore, some labs will give the results of a test to the individual and their physician while other labs cannot provide this information.

Unlike clinical testing, research-based testing may take several months or years. Research testing offers a chance to obtain information and results that are not available on a clinical basis, usually without any cost to participants. You may wish to consider these issues as you decide whether you wish to pursue either clinical or research-based testing.

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