FAQs: Genetic testing
Answers for patients and individuals who have questions about genetic testing.
How it works
- How do I get an Invitae test?
It’s important to work with a healthcare provider when ordering a genetic test. For that reason, all Invitae tests must be ordered in consultation with a clinician.
Diagnostic testing only For diagnostic testing, you can either talk to your doctor about testing with us or initiate a test request online.How to order through your doctor
If you'd like your doctor to order diagnostic testing for you, we've developed a letter you can share with your doctor to get the process started:
- testing related to cancer
- testing related to heart disease, neurology, pediatrics and more
- testing related to genetic risk
How to request an order online
If you're unable to work with your own doctor, you have the option to initiate a diagnostic test request online through Invitae's website for:
- How do I provide a sample?
Once your test has been ordered, you will need to provide a DNA sample. Usually, this means either a blood sample or a saliva sample.
Saliva sample
For orders that you initiate online, you'll receive a saliva collection kit in the mail. If your doctor orders your test, they can also request that we ship a saliva sample collection kit to your home. Once you receive your kit, follow the instructions inside to submit your sample.
This video can also help:
Blood sample
If your doctor is placing the order for you, they can arrange to have your blood drawn. We can also arrange for a blood draw, either at your doctor’s office or in your own home, at no additional charge. To request this service, please have your doctor contact our Client Services team.
- I'm having trouble providing a saliva sample. Can you help?
The following video offers an overview of how to provide a saliva sample. If you're having trouble, this tips and tricks flyer can also help.
Looking for instructions in other languages? These videos and PDFs can help:
If your collection kit is blue and says, "saliva collection kit," use the following links:
- English video
- Español (Spanish) video
- Français (French) video
- Português (Portuguese) video
- 中国人 (Chinese) video
- عربى (Arabic) video
If your collection kit is pink and says, "buccal swab collection kit," use the following links:
- How is my DNA tested?
Once we receive your sample and test order from your doctor, our lab isolates your DNA, the source of your genetic information. Your DNA then goes through a thorough preparation process and is sequenced using cutting-edge technology called next-generation sequencing (NGS). We sequence each gene a few hundred times to generate reliable, informative data about the genetic changes that have been previously reported or would be expected to cause disease. Our highly trained clinical team evaluates the data generated from your DNA and prepares a report with the results. We'll send the report directly to your doctor, who will share it with you.
- How will you protect the privacy of my genetic test results?
Our laboratories are CLIA- and CAP-certified (Clinical Laboratory Improvement Amendments of 1988 and College of American Pathologists Laboratory Accreditation Program) and follow the same stringent medical privacy policies and practices shared by the rest of your medical team. This includes adhering to the safe and secure storage of all personal health information in a HIPAA-compliant manner (Health Insurance Portability and Accountability Act).
Learn more about our privacy policy here.
Genetic testing
- What is genetic testing?
Genetic testing analyzes your genes, which are the instructions encoded in your DNA. Your genes help determine your hair and eye color, height, and other physical traits that make you who you are. Genetic testing looks for variations in your genes that can potentially lead to disease. You or your doctor might consider genetic testing for various reasons, like confirming a disease you are suspected to have or understanding the cause of a disease that runs in your family.
Check out this introduction to genetic testing video as well:
- How do I know what type of genetic test is right for me?
Finding the right genetic test depends on your medical and family histories, your current medical conditions, and the kinds of answers you and your healthcare provider seek. Talk to your doctor about what type of genetic testing may be right for you.
- What can genetics tell me about specific diseases and conditions?
Genetic information can play an important role in diagnosing an inherited condition, understanding unexplained symptoms, and proactively preparing for the future.
Learn more:
- Genetic risk testing to stay healthy
- Diagnostic testing for cancer patients and their families
- Understanding a genetic condition
Looking for more in-depth information?
The guides below explain more about how genetics can be beneficial in relation to specific diseases and conditions.
Hereditary cancer
Genetic testing for hereditary cancer
Hereditary breast cancer
Hereditary gynecologic cancers
Hereditary colorectal cancer
Hereditary prostate cancer
Hereditary pancreatic cancer
Heart conditions
Hereditary heart conditions
Pediatric & rare disorders
Pediatric diagnostic testing - Do you have any information on genetic testing in languages other than English?
Yes, we have a number of patient guides available in languages other than English.
Español (Spanish):
- Hereditary cancer
- Hereditary breast cancer
- Hereditary gynecologic cancers
- Hereditary colorectal cancer
- Hereditary prostate cancer
Français (French):
- Will genetic testing impact my health, life, or disability insurance?
The federal Genetic Information Nondiscrimination Act of 2008 ("GINA") protects individuals against discrimination for the purpose of obtaining health insurance or employment. It doesn't extend those protections to life insurance or disability. However, it's possible there are state law protections depending on where a person lives. More details can be found at ginahelp.org. GINA only protects residents of the United States. If you are ordering a test outside of the United States, genetic discrimination laws may or may not have been enacted in your jurisdiction.
Testing options
- What types of testing are offered?
Our mission is to make high-quality genetic testing affordable and accessible through every stage of life.
Adult-onset and pediatric disorders
We offer both diagnostic testing and screening for patients who may have a genetic condition or whose family medical history suggests that they may have an increased risk of a genetic condition compared with someone in the general population.
- Diagnostic testing is ordered when your healthcare provider wishes to confirm or rule out a disorder based on your symptoms.
- Predictive testing is ordered when your healthcare provider considers that you may benefit from knowing your genetic risks or general genetic insights to inform your health. Even if you don’t meet genetic testing guidelines criteria or have a limited family history, your doctor may recommend predictive testing to help clarify your risk of developing diseases like cancer or cardiovascular disease in the future.
Genetic risk testing
Labcorp's Invitae Genetic Risk Panels are a patient-pay testing option for healthy adults who are unlikely to meet genetic testing guidelines criteria but still want to focus on prevention. Test results have a clear medical basis and are clinically actionable.
- How can I tell whether you offer a test for my condition?
Please talk to your doctor to discuss if genetic testing is right for you. You can also view our online test catalog for healthcare providers if you'd like to see the full list of our tests.
Sponsored testing
- What is a sponsored testing program?
We collaborate with other companies to offer sponsored, no-charge testing—and in some cases genetic counseling—for patients who meet eligibility criteria.
The potential benefits of our sponsored testing programs include the ability to:
- identify the risk of diseases for patients and their family members
- shorten the time to diagnosis and to prevent misdiagnosis
- help patients consider clinical trials
- make patients and providers aware of research opportunities and potential therapies
View all available sponsored testing programs here.
The biopharmaceutical companies that sponsor these testing programs receive de-identified patient data and contact information for the healthcare providers who use the programs.
We'll never share personal (identifiable) information with the sponsor unless a patient specifically authorizes us to do so. To learn more, please see our privacy policy.
Family variant testing
- Why is family variant testing helpful?
Genetic test results may have health implications not only for an individual, but for an entire family. If you receive a positive test result, testing family members as a next step can help identify if other family members are at risk for the same genetic condition. Family members who test positive can consider options for prevention and early detection of a condition as well as for family planning.
- How can I learn more about the medical condition in my family?
If a family member tested positive for a genetic condition, you may also be at increased risk for that same condition. Genetic testing can tell you for sure.
Family members who test positive can work with their doctors to make a plan for prevention or early detection of disease.
Talk to your doctor about getting tested for your family member's genetic variant. You can also speak with one of our genetic counselors Monday through Friday from 5:00 am - 5:00 pm Pacific. Just call us at 800-436-3037.
- How do I get family follow-up testing?
Genetic test results may have health implications not only for an individual, but for an entire family. If you receive a positive test result, family follow-up testing can help identify other family members at risk for the same genetic disease. Family members who test positive can work with their doctors to make a plan for prevention or early detection of disease.
When to consider family follow-up testing
I received a positive test result
If you tested positive for a disease-causing (pathogenic or likely pathogenic) variant, your family members have up to a 50% chance of having the same variant.If they also test positive, they may have an elevated risk of developing the disease and can look into options for prevention and early detection. If they test negative, their risk of developing the disease may be similar to the general population.
There are a few steps you can take:- Talk to your doctor or one of Invitae’s genetic counselors to determine which of your family members could be at risk.
- Call Invitae at 800-436-3037, Monday through Friday, 5:00 am to 5:00 pm Pacific.
- Encourage your family members to discuss the option of genetic testing with their doctor or a genetic counselor.
My family member received a positive test result
If your family member has a disease-causing (pathogenic or likely pathogenic) variant, you may have up to a 50% chance of having the same variant.If you also test positive, you may have an elevated risk of developing the disease. With this knowledge, you can consider options for prevention and early detection.
There are a few steps you can take:- Obtain a copy of your relative’s positive genetic test report.
- If you'd like your doctor to order genetic testing for you, bring one of these letters and your relative's test report to your doctor's appointment:
- Some doctors will order genetic testing directly, while others will refer you to a genetic counselor.
- You can also work with a genetics provider online who can order a test on your behalf. (Please note that there may be a cost associated with this option.)
Ready to get started?
Talk to your doctor or schedule an online appointment with Genome Medical to discuss your testing options.
Genetic risk tests
- What are Labcorp's Invitae Genetic Risk Panels?
We offer two genetic risk tests for healthy adults without a personal or strong family history of genetic conditions, such as cancer and cardiovascular conditions. These tests offer insights into important health risks you may or may not have based on your DNA. Learn more here.
- What if I don't have a family history of a genetic disease?
Scientific data has shown that no matter your family history, many healthy individuals may be at risk of carrying a disease-causing genetic change without knowing it. In addition, every person has some degree of risk for having genetic conditions or passing risks on to their children. Genetic risk testing may be appropriate if you are motivated to understand this risk.
- How will this type of genetic testing help me with my current and future healthcare?
Our studies have found that about 15% of healthy adults carry a health-related genetic risk1. Adults who learn that they have risk-related genetic changes can partner with their healthcare provider to seek early care, regular monitoring, and possibly initiate an early intervention to prevent the onset of disease. Additionally, lifestyle changes may be considered because of genetic test results.
Reference
1. Haverfield EV, et al. BMC Med. 2021 Aug 18;19(1):199. - Will this test tell me about my diabetes risk, weight loss potential, or other conditions like celiac disease?
The short answer is no.
Currently, the scientific data available to support the use of genetics for assessing a healthy individual’s risk for conditions such as diabetes and obesity is limited.
Although some scientists believe there are genetic markers or variants that can be used to predict these conditions in advance, the evidence remains inconclusive for these “complex diseases,” which are caused by a combination of genetic and environmental factors.
To provide a useful and scientifically sound genetic test, we've chosen to test only genes with established medical actionability, including those recommended by the American College of Medical Genetics and Genomics (ACMG) and other prominent genetics experts. Labcorp, including Invitae, conducts and supports ongoing research to evaluate the role of genetics in many diseases and conditions.
Labcorp's Invitae Genetic Risk Panels provide results with an actionable medical path forward. We focus on medical conditions that can be prevented or treated if discovered early.
In other words, you can work with your doctor to take action based on your genetic information.
- How are Invitae's genetic tests different from other genetic tests that are advertised as providing information about ancestry and health issues?
Our genetic risk tests are different from many other consumer-ordered DNA tests which are for general interest. Invitae tests provide comprehensive, medical-grade results about a variety of important medical conditions that have an actionable path forward.
We focus on medical conditions that can be prevented or treated if discovered early. Your results have a clear medical path forward. In fact, in most cases, a 'positive' result from consumer tests would require further testing because they do not provide the necessary medical information.
In other words, you can take action based on your genetic information.
We did the comparison so you don't have to:
Invitae Consumer-focused genetic testing labs The same tests doctors use and trust? Yes No Information you can use to make health decisions? Yes No Pay with your FSA/HSA? Yes. After testing with other labs, your doctor will need to order a medical-grade test to confirm the results—that test is us! No Support from healthcare providers and genetic experts, from the moment you order through deciding how to act on your results? Yes No Information about your ancestry and personal traits like whether cilantro tastes like soap to you? Nope. We admit it. We're a healthcare company, so we only focus on helping you take care of your health. Yes - What does this test result mean for the health of my family members?
Your genetic test results may have implications for your biological relatives. If you receive positive test results, you may want to seek clinical genetic counseling to determine how and when to approach family members who may also be at risk. The earlier this information is shared, the sooner your family members can take action to potentially reduce their risk of disease.
You can share the following letters with your relatives to initiate a conversation about your test results and what the results could mean for them and other family members.
Learn more in the Family variant testing section.
- Is there genetic counseling support if I have questions before or after my testing takes place?
Absolutely. We can provide post-test genetic counseling services to individuals undergoing testing. Our experienced, board-certified genetic counselors are available by telephone to answer your questions about genetic testing and genetic test results. Visit our genetic counseling page to learn more.
- How do I order genetic risk tests?
Talk to your doctor. Your healthcare provider can evaluate your medical history and may be able to order testing for you. See test options here.