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Juvenile Polyposis:
A Guide for patients and their families

What Tests are Available for JP?

Joy Larsen Haidle, MS, CGC, UI Health Care
V. Kim Horton, RN, MS, CGC, UI Health Care
James R. Howe, MD, UI College of Medicine
Hope Bergemann, UI Health Care

Peer Review Status: Internally reviewed by the authors
First Published:
Last Revised: April 2002


Genetic testing can determine if someone has a gene change that may cause JP. Genetic testing is available through one of two routes, clinical testing or research-based testing.

Clinically approved testing is offered by accredited laboratories that have established procedures and turn-around times for the testing they offer. Clinically approved laboratories usually charge for services. These charges may be covered by insurance.Research labs are searching for new ways to test for changes in SMAD4, PTEN, BMPR1A, and other genes associated with JP. Your doctor and/or genetic counselor can help if you are interested in participating in a research study. In a typical research study, 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 doctor 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, which can be helpful for some families. There is usually no cost to participate in research.Testing for SMAD4, BMPR1A, and PTEN gene changes are now available on a clinical basis. JP testing remains available on a research basis. Research studies involving voluntary patient participation continue to help health professionals learn more about JP. As new information is discovered, new tests and treatments may become available for individuals affected with JP and their families. 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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Last modification date: Mon Aug 7 13:10:25 2006
URL: http://www.uihealthcare.com /topics/medicaldepartments/cancercenter/juvenilepolyposis/tests.html