When do you do genetic testing

Some examples of this are Duchene muscular dystrophy or sickle cell disease. Single gene testing is also used when there is a known genetic mutation in a family. Panel testing. A panel genetic test looks for changes in many genes in one test. Genetic testing panels are usually grouped in categories based on different kinds of medical concerns. Some examples of genetic panel tests are low muscle tone, short stature, or epilepsy.

Panel genetic tests can also be grouped into genes that are all associated with higher risk of developing certain kinds of cancer, like breast or colorectal colon cancer. Large-scale genetic or genomic testing. There are two different kinds of large-scale genetic tests. Exome and genome sequencing are ordered by doctors for people with complex medical histories. Large-scale genomic testing is also used in research to learn more about the genetic causes of conditions.

Large-scale genetic tests can have findings unrelated to why the test was ordered in the first place secondary findings. If you have a family history of a genetic condition, have symptoms of a genetic condition, or are interesting in learning about your chance of having a genetic condition, talk to your doctor about whether genetic testing is right for you. The decision to pursue prenatal testing is up to you.

If you're concerned about prenatal testing, discuss the risks and benefits with your health care provider. You might also meet with a genetic counselor for help choosing a test and understanding the results. Taking the time to evaluate your options will help you make the best decision for you and your baby.

There is a problem with information submitted for this request. Sign up for free, and stay up-to-date on research advancements, health tips and current health topics, like COVID, plus expert advice on managing your health.

Error Email field is required. Error Include a valid email address. To provide you with the most relevant and helpful information and to understand which information is beneficial, we may combine your e-mail and website usage information with other information we have about you.

If we combine this information with your PHI, we will treat all of that information as PHI, and will only use or disclose that information as set forth in our notice of privacy practices. You may opt-out of e-mail communications at any time by clicking on the Unsubscribe link in the e-mail. Our Housecall e-newsletter will keep you up-to-date on the latest health information. Mayo Clinic does not endorse companies or products. Advertising revenue supports our not-for-profit mission.

Any use of this site constitutes your agreement to the Terms and Conditions and Privacy Policy linked below. A single copy of these materials may be reprinted for noncommercial personal use only.

This site complies with the HONcode standard for trustworthy health information: verify here. Different types of genetic testing are done for different reasons:. Generally genetic tests have little physical risk. Blood and cheek swab tests have almost no risk. However, prenatal testing such as amniocentesis or chorionic villus sampling has a small risk of pregnancy loss miscarriage. Genetic testing can have emotional, social and financial risks as well. Discuss all risks and benefits of genetic testing with your doctor, a medical geneticist or a genetic counselor before you have a genetic test.

Before you have genetic testing, gather as much information as you can about your family's medical history. Then, talk with your doctor or a genetic counselor about your personal and family medical history to better understand your risk. Ask questions and discuss any concerns about genetic testing at that meeting. Also, talk about your options, depending on the test results. If you're being tested for a genetic disorder that runs in families, you may want to consider discussing your decision to have genetic testing with your family.

Having these conversations before testing can give you a sense of how your family might respond to your test results and how it may affect them. Not all health insurance policies pay for genetic testing.

So, before you have a genetic test, check with your insurance provider to see what will be covered. In the United States, the federal Genetic Information Nondiscrimination Act of GINA helps prevent health insurers or employers from discriminating against you based on test results.

Under GINA, employment discrimination based on genetic risk also is illegal. However, this act does not cover life, long-term care or disability insurance. Most states offer additional protection. Depending on the type of test, a sample of your blood, skin, amniotic fluid or other tissue will be collected and sent to a lab for analysis. The amount of time it takes for you to receive your genetic test results depends on the type of test and your health care facility.

Talk to your doctor, medical geneticist or genetic counselor before the test about when you can expect the results and have a discussion about them. If the genetic test result is positive, that means the genetic change that was being tested for was detected. The steps you take after you receive a positive result will depend on the reason you had genetic testing. Talk to your doctor about what a positive result means for you.

In some cases, you can make lifestyle changes that may reduce your risk of developing a disease, even if you have a gene that makes you more susceptible to a disorder. Results may also help you make choices related to treatment, family planning, careers and insurance coverage.

In addition, you may choose to participate in research or registries related to your genetic disorder or condition. These options may help you stay updated with new developments in prevention or treatment.