Mayo Clinic Health Manager
Get free personalized health guidance for you and your family.
Get Started
About our e-newsletters
- Free e-newsletters
- Mayo Clinic expertise
- We do not share your e-mail address
Housecall, our weekly general-interest e-newsletter, keeps you up to date on a wide variety of health topics with timely, reliable, practical information, recipes, blogs, questions and answers with Mayo Clinic experts and more. Our biweekly topic-specific e-newsletters also include blogs, questions and answers with Mayo Clinic experts, and other useful information that will help you manage your health.
Housecall Archives
Mayo Clinic Housecall
Stay up to date on the latest health information.
What you get
- Free weekly e-newsletter
- Mayo Clinic expertise
- Recipes, tools and other helpful information
- We do not share your e-mail address
Results
By Mayo Clinic staffThe amount of time it takes for you to receive your genetic testing results will depend on the type of test and your health care facility. Talk to your doctor before the test about when you can expect the results. The lab will likely provide the test results to your doctor in writing. Your doctor will then discuss them with you.
Positive results
If the genetic test result is positive, that means the genetic alteration that was being tested for was detected. The steps you take after you receive a positive result will depend on the reason you underwent genetic testing. If the purpose was to diagnose a specific disease or condition, a positive result will help you and your doctor determine the right management plan.
If you were tested to find out if you are carrying an altered gene that could cause disease in your child, and the test is positive, your doctor or a genetic counselor can help you determine a child's risk of actually developing the disease. The test results can also provide information for you and your partner to consider as you make family planning decisions.
If you were having gene testing to determine if you might develop a certain disease, a positive test doesn't necessarily mean you will get that disorder. For example, having a breast cancer gene (BRCA1 or BRCA2) means you are at high risk of developing breast cancer at some point in your life, but it doesn't indicate that you will get breast cancer. However, there are some conditions, such as Huntington's disease, for which the altered gene does indicate that the disease will eventually develop.
Talk to your doctor about what a positive result means for your situation. In some cases, you can make lifestyle changes that may decrease your risk of developing a disease, even if you have an altered gene that makes you susceptible to a disorder.
Negative results
A negative result means a genetic alteration was not detected by the test. But a negative result doesn't guarantee that you don't have an alteration. The accuracy of genetic tests to detect alterations varies, depending on the condition being tested for and whether or not an alteration has been previously identified in a family member.
Even if you don't have the genetic alteration, that doesn't necessarily mean you will never get the disease. For example, people who don't have a breast cancer gene (BRCA1 or BRCA2) can still develop breast cancer. Also, genetic testing may not be able to detect all genetic defects.
Inconclusive results
In some cases, a genetic test may not be able to provide helpful information about the gene in question. Everyone has variations in the way genes appear (polymorphisms) and, often, these variations don't affect your health. But sometimes it can be difficult to distinguish between a disease-causing gene alteration and a harmless gene variation. In these situations, follow-up testing may be necessary.
No matter what the results of your genetic testing, talk with your doctor or genetic counselor about any questions or concerns you may have, so you understand what the results mean for you and your family.
- Frequently asked questions about genetic testing. National Human Genome Research Institute. http://www.genome.gov/19516567. Accessed Nov. 3, 2008.
- Genetics home reference: Genetic testing handbook. U.S. National Library of Medicine. http://ghr.nlm.nih.gov/handbook/testing/genetictesting. Accessed Nov. 3, 2008.
- Hunter DJ, et al. Letting the genome out of the bottle — Will we get our wish? The New England Journal of Medicine. 2008;358:106.
- Ensenauer RE, et al. Medical genomics: Primer on medical genomics part VIII: Essentials of medical genetics for the practicing physician. Mayo Clinic Proceedings 2003;78:846.
- Gene testing: Human Genome Project information. Human Genome Program. http://www.ornl.gov/sci/techresources/Human_Genome/medicine/genetest.shtml. Accessed Nov. 3, 2008.
- Kaye CI. Newborn screening fact sheets. Pediatrics. 2006;118:934.
- Pinksy, L. Overview of genetic assessment. http://www.uptodate.com/home/index.html. Accessed Nov. 3, 2008.
- Genetic testing: What it means for your health & for your family's health. National Human Genome Research Institute. http://www.genome.gov/Pages/Health/PatientsPublicInfo/GeneticTestingWhatItMeansForYourHealth.pdf. Accessed Nov. 3, 2008.
- Understanding cancer series: Gene testing. National Cancer Institute. http://www.cancer.gov/cancertopics/understandingcancer/genetesting. Accessed Nov. 12, 2008.
