FAQs: Genetic testing

It’s important to work with a healthcare provider when taking a genetic test. For that reason, all of Invitae’s tests must be ordered in consultation with a clinician. You can either talk to your doctor about testing with Invitae, or you can request a test online through a healthcare provider in Invitae’s network.

How to order through your doctor

If you would 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

How to request an order online

If you are unable to work with your own doctor, you have the option to initiate a test online through Invitae's website for:

• For proactive testing
• For diagnostic testing for cancer patients & their families
• For genetic condition

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 yourself online, you will receive a saliva collection kit in the mail. If your doctor orders your test, he or she can also request that Invitae 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, your doctor can arrange to have your blood drawn. Invitae 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 Invitae’s Client Services team.

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:

• Spanish: video
• Arabic: video
• Portuguese: video
• Chinese: video
• French: video
• English: video

If your collection kit is pink and says "buccal swab collection kit," use the following links:

• Spanish: PDF
• Arabic: PDF
• Portuguese: PDF
• Chinese: PDF
• French: PDF
• English: PDF

Once Invitae receives your sample and test order from your doctor, our laboratory 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). Invitae sequences 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. Invitae will send the report directly to your doctor, who will share it with you.

Invitae’s laboratories are CLIA- and CAP-certified 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.

Learn more about our privacy policy here.

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 a variety of reasons, such as 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:

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.

Genetic information can play an important role in diagnosing an inherited condition, understanding unexplained symptoms, and proactively preparing for the future.

Learn more:

• Proactive testing to stay healthy
• Diagnostic testing for cancer patients & 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
  
  Heart conditions
  Hereditary heart conditions
  
  Pediatric & rare disorders
  Pediatric diagnostic testing

Yes! We have a number of patient guides available in languages other than English.

Spanish:

• Genetic testing, simplified
• Hereditary cancer
• Hereditary breast cancer
• Hereditary gynecologic cancers
• Hereditary colorectal cancer
• Hereditary prostate cancer

French:

• Hereditary cancer
• Breast cancer

While guidelines by the National Society of Genetic Counselors, American College of Medical Genetics, and the American Society of Human Genetics do not recommend predictive genetic testing for adult onset conditions until age 18, minors should get tested early for certain conditions. Some conditions manifest in childhood and might have effective medical interventions.

To learn more about testing minors, please contact Invitae at 800-436-3037 to speak with a genetic counselor.

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.

Invitae’s mission is to make high-quality genetic testing affordable and accessible through every stage of life.

Adult-onset and pediatric disorders

Invitae offers both diagnostic and predictive testing for patients who may have a genetic condition or whose family medical history suggests that they may be facing 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 may be concerned that you may be at increased risk for a genetic condition, even if you aren’t currently showing symptoms. If you have a family history of a specific disease that may be inherited—whether it’s a rare inherited illness or a more common one, like cancer—your doctor may recommend predictive testing to help clarify your risk of developing the disease in the future.

Proactive testing

Invitae’s genetic health screens are a proactive option for healthy adults who want to understand their DNA and focus on prevention. Test results have a clear medical basis and are clinically actionable.

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.

Invitae partners 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.

In order to provide these sponsored testing programs at no charge to patients, Invitae partners with biopharmaceutical companies. These sponsors receive de-identified patient data from these programs as well as contact information for the healthcare providers who use the programs.

Invitae will never share personal (identifiable) information with the sponsor unless a patient specifically authorizes us to do so. To learn more, please see Invitae’s privacy policy.

SMA Identified is a no-charge genetic testing program offered through Biogen for patients suspected of having or clinically diagnosed with spinal muscular atrophy (SMA). The SMA Identified Program facilitates access to genetic testing to help accelerate or confirm the diagnosis of SMA. For full program eligibility and ordering instructions, please visit the SMA Identified page.

Behind the Seizure^TM is a no-charge epilepsy gene panel testing program, in partnership with BioMarin. The program is for 2-4-year-olds who meet certain clinical criteria. For full eligibility requirements and ordering instructions, please visit our Behind the Seizure page.

Strongbridge Biopharma^TM has partnered with Invitae to offer a no-cost periodic paralysis gene panel test for those who have episodic muscle weakness or temporary paralysis provoked by common triggers for primary hyperkalemic or hypokalemic periodic paralysis. For full eligibility requirements and ordering instructions, please visit our Uncovering Periodic Paralysis page.

The Alnylam Act hereditary amyloidosis (hATTR) program provides no-charge genetic testing for hATTR amyloidosis. For details on eligibility and ordering, please visit the Alnylam Act page.

The Alnylam Act acute hepatic porphyrias program provides no-charge genetic testing for the acute hepatic porphyrias. For details on eligibility and ordering, please visit the Alnylam Act acute hepatic porphyrias page.

Understand the meaning behind common genetic testing terms:

Variant: a change in the sequence of the DNA that may or may not affect the function of the gene(s) or product(s). Variants can be pathogenic, likely pathogenic, benign, or have unknown significance.

Pathogenic: Pathogenic variants (sometimes called mutations) are changes in your DNA that lead to a known health condition. If you have a pathogenic variant in your DNA, you will receive a positive test report.

Likely pathogenic: Likely pathogenic variants (sometimes called mutations) are changes in your DNA that are expected to lead to a known health condition. If you have a likely pathogenic variant in your DNA, you will receive a positive test report.

Benign: Everyone's DNA contains many variants, and most are benign. Benign variants are changes to the DNA that do not lead to known health conditions. Among other reasons, many of these variants are considered benign because the frequency of the variants in the general population is much higher than would be expected for a variant that could cause disease. Since there is no evidence that these variants are disease-causing, benign variants are not included in your test report and you will receive a negative test result if no other variants are identified.

Variant of unknown significance (VUS): A variant of unknown significance (VUS) is a change in your DNA that has an uncertain or unknown impact on your health. If you have a VUS, you do not necessarily have an increased risk of developing a certain health condition. Over time, the scientific and medical community will identify new evidence about each particular VUS, and the classification of the variant may change from VUS to pathogenic, likely pathogenic, or benign. If a VUS in your sample is reclassified to pathogenic or likely pathogenic, Invitae will notify your clinician and issue an updated report.

Positive: If you test positive for a pathogenic or likely pathogenic variant, you have an increased risk of developing a disease. In most cases, there are medical management options available to help prevent disease or detect it at an earlier, more treatable stage. We strongly recommend that you speak with a licensed, board-certified genetic counselor to review your test result.

Negative: A negative result means that you do not have a disease-causing variant that is associated with an elevated risk for genetic disease. In most cases, increased screening and preventive measures will not be indicated for you.

Deletion or duplication: Deletions and duplications are large sections of DNA that are missing or extra. They can range in size from a small section within a gene to a large chunk containing multiple genes. Invitae’s tests include detection of deletions and duplications in most cases.

Next-generation sequencing: Invitae uses technology called next-generation sequencing (NGS) to determine the sequence of patients’ DNA. NGS allows multiple pieces of DNA to be sequenced at the same time, making it much quicker and less expensive than past methods of DNA sequencing. The data from NGS is analyzed to identify variants in your DNA that may increase your chance of developing certain health conditions.

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. The risk to family members who test negative may be similar to the general population.

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. Just call us at 800-436-3037.

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. If you test negative, your risk of developing the disease may be similar to the general population.

There are a few steps you can take:

Obtain a copy of your relative’s positive genetic test report.

• If you would 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:
  • Testing related to cancer
  • Testing related to heart disease, neurology, pediatrics and more
• 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.

Invitae offers three proactive health 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.

Scientific data has shown that regardless of family history, many healthy individuals may be at risk for 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. Proactive testing may be appropriate if you are motivated to understand this risk.

Our studies have found that about 15% of healthy adults carry a health-related genetic risk. 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 as a result of genetic test results.

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, Invitae has chosen to test only genes with established medical actionability, including those recommended by the American College of Medical Genetics and Genomics and other prominent genetics experts.

Our proactive tests 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.

Invitae’s proactive health tests are different from many other proactive DNA tests because they provide comprehensive results about a variety of important medical conditions that have an actionable medical 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 other words, you can take action based on your genetic information.

We did the comparison so you don't have to:

The same tests doctors use and trust?

Invitae: Yes
Other genetic testing labs¹: No

Information you can use to make health decisions?

Invitae: Yes
Other genetic testing labs¹: No

Pay with your FSA/HSA?

Invitae: Yes. After testing with other labs, your doctor will need to order a medical-grade test to confirm the results—that test is us!
Other genetic testing labs¹: No

Support from healthcare providers and genetic experts, from the moment you order through deciding how to act on your results?

Invitae: Yes
Other genetic testing labs¹: No

Information about your ancestry and personal traits like whether cilantro tastes like soap to you?

Invitae: Nope. We admit it. We're a healthcare company, so we only focus on helping you take care of your health.
Other genetic testing labs¹: Yes

1. As compared to non-medical companies that offer ancestry testing combined with direct-to-consumer testing health conditions.

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.

• Lynch syndrome letter
• HBOC letter
• General positive letter

Learn more in the Family variant testing section above.

Absolutely! Invitae can provide comprehensive, 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 resources page to learn more.

There are two ways to initiate a genetic test with Invitae:

• Talk to your doctor. Your healthcare provider may be able to order testing for you.
• Patients are also able to initiate an order for proactive testing online. If you choose this route, an independent clinician will review and authorize your orders, as well as review the results before they are released to you.