Bannayan-Riley-Ruvalcaba Syndrome
A Guide for patients and their families
Tests Available
Sarah Burton, UI Health Care
Joy Larsen Haidle, MS, CGC, UI Health Care
Heather Hampel, MS, CGC, Ohio State University
Peer Review Status: Internally reviewed by the authors
First Published: 2002
Last Revised: 2002
Are Tests for Bannayan-Riley-Ruvalcaba Syndrome Available?
Genetic testing of the PTEN gene can identify if someone has a gene change that is able to cause Bannayan-Riley-Ruvalcaba syndrome. Clinically approved testing is offered by accredited laboratories that have established procedures and turnaround times for the testing they offer. There is usually a charge for services provided by clinically approved laboratories. These charges may or may not be covered by insurance. One of the clinically approved tests for BRR is called sequencing. In sequencing, the individual components of the PTEN gene are examined for a gene change known to be associated with Bannayan-Riley-Ruvalcaba syndrome. This test is very accurate, but only about 50 to 60 percent of people meeting the criteria for Bannayan-Riley-Ruvalcaba syndrome have an identifiable gene change. This means that 40 to 50 percent of people who meet the criteria for Bannayan-Riley-Ruvalcaba syndrome will not have an identifiable gene change and will have a negative test result even though they do have Bannayan-Riley-Ruvalcaba syndrome. This could be due to a limitation in the test or it could be that the person does have Bannayan-Riley-Ruvalcaba syndrome, 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 and to better identify patients with Bannayan-Riley-Ruvalcaba syndrome. Your physician and genetic counselor can help 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 to 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 to obtain a result. Research testing does offer a chance for obtaining information and results that are not available on a clinical basis and there usually is not any financial cost to participate in research. You may wish to consider these issues as you decide whether or not you wish to pursue clinical or research based testing.
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