Invitae FAQs

Tests ordered by a healthcare provider

If you decide to pay for your test through our self-pay option (rather than billing to your insurance company), once Invitae receives your DNA sample, we will send you an email with instructions on how to pay for your test online via credit card.You can also make a payment here. If you would prefer to pay over the phone or via wire transfer, please contact Client Services.

Tests initiated online

If you initiate a proactive genetic test or carrier screen online, you will be prompted to pay for your test during the check-out process. Payment can be made via credit card in Invitae’s secure ordering portal.

Invitae is proud to be in-network for more than 290 million people in the United States. Regardless of whether you are in-network or out-of-network, Invitae is committed to making genetic testing affordable. Typically people pay no more than $100 out-of-pocket for one of our tests when billing insurance. If you receive a bill for more than $100, you can call us directly to discuss payment options. Refer to this FAQ to learn more about all the payment options available.

Please note that Invitae does not offer insurance billing for proactive testing as this test is rarely covered by insurance. Also, currently we do not accept insurance for carrier screening if it is initiated through our online ordering service

How will I learn about clinical trials through the Invitae PIN?

Researchers cannot contact you directly. The Invitae PIN coordinator will send you information about a study or clinical trial by email. If you are interested, we will tell you how to get involved.

Does joining the PIN guarantee a spot in a clinical trial?

No, because every trial has specific participant criteria that must be met. The benefit of being part of a research-ready community is that it is easier to learn about trial opportunities and identify patients who are likely to fit the trial or study criteria.

Should I join the PIN if I don't want to be involved in a clinical trial?

Absolutely! Your survey and medical information can help the entire medical community, including people you've never met.

The Invitae Patient Insights Network (PIN) is more powerful than a traditional patient registry. It's an online platform where individuals can take surveys, upload medical records, track health outcomes, and learn about the latest research and clinical trials.

PIN data is safeguarded and de-identified, which makes it possible to share it with researchers and biopharmaceutical companies working to help find new and better treatments for disease. Data is also shared with patients, giving PIN participants the opportunity to learn how others are managing similar health challenges.

What happens when I join?

As an Invitae PIN participant, you can take health surveys, upload medical records, and maintain your privacy while learning about the latest research and clinical trials. You own your data. You opt in and decide what to share and when you want to be contacted. After you take a survey, you can see responses and learn how others manage similar health challenges. De-identified data is also shared with researchers and companies working to improve care and find cures for diseases like yours.

Healthcare professionals are fundamental to interpreting genetic information. We encourage you to discuss your results with your healthcare provider.

In addition, consultation with a genetics expert is available to patients who undergo hereditary cancer, cardiology, reproductive health, or proactive health testing at Invitae. Our experienced, board-certified genetic counselors are available by telephone to answer your questions about genetic testing and genetic test results. You also have the option to schedule a more comprehensive post-test genetic counseling session specific to your own medical and family histories, if desired. If you received your testing through Invitae, there is no additional charge for any of these services. Learn more by visiting our Genetic counseling services page.

For information on the potential results from Invitae testing, please see the descriptions below.

Diagnostic tests

Hereditary cancer

Positive

A positive result means your test found a variant that has been known to cause cancer in the genes tested.

If you do not have cancer, a positive result does not mean you have cancer; however, it does mean that you are at increased risk for developing cancer in the future.

Work with your healthcare provider to:

understand your results and what they mean for you and your family

learn about options for treatment, or ways to reduce your risk

identify at risk family members who may also benefit from genetic testing

Negative

A negative result means you do not carry a variant (change) for the genes tested, and your test does not show that you are at increased risk for developing a hereditary cancer associated with those genes.

If you have been diagnosed with cancer, your diagnosis is not known to be caused by the genes tested.

Your overall risk of cancer may still be influenced by your medical history, family history, and the environment, so it’s important to talk to your healthcare provider to learn more about your results and what they mean for you.

VUS (variant of uncertain significance)

A VUS result occurs when a genetic variant (or change) was identified, but there is not enough medical research available to know whether that change increases your risk of developing hereditary cancer.

In some cases, your healthcare provider may recommend additional testing. Your doctor will be updated as new clinically relevant information about this VUS becomes available through future research.

VUS results are relatively common and should not be used to make health decisions.

Hereditary heart disease

Positive

A positive result means your test found a variant that has been known to cause heart disease in the genes tested. Work with your healthcare provider to:

understand your results and what they mean for you and your family

learn about treatment options and ways to reduce your risk

identify at-risk family members who may also benefit from genetic testing

Negative

A negative result means you do not carry a variant (change) in the genes tested, and your test does not show that you are at increased risk for developing a hereditary heart condition associated with those genes.

If you have been diagnosed with a heart condition, your diagnosis is not known to be caused by the genes tested.

While your genes are an important piece of your overall health, environmental factors, other medical conditions, and lifestyle also contribute to heart disease. Work with your healthcare provider to create an appropriate healthcare plan for you.

VUS (variant of uncertain significance)

A VUS result is found when a genetic variant (or change) was identified, but there is not enough medical research available to know whether that change increases your risk of developing heart disease.

Your healthcare provider may recommend additional testing for you or your family members. Your doctor will be updated as new clinically-relevant information about this VUS becomes available through future research.

VUS results are relatively common and should not be used to make health decisions.

Proactive tests

Positive

A positive result means that your test found a genetic variant (or change) that increases your risk for developing an associated disease. This is not a diagnosis and does not mean that you will definitely develop that disease.

Talk to your doctor to:

understand your results and what they mean for you and your family

learn about options to reduce your risk

identify at-risk family members who may also benefit from genetic testing

Negative

A negative result means your test did not find potentially harmful genetic variants (or changes). You are not at increased risk for developing a disease associated with the genes tested.

Your genes are an important piece of your overall health, but other factors, like lifestyle, also play a part. Just because you get a negative test result does not mean that you could never get a disease. Use the information from your test to inform your overall health and wellness plan with the help of your doctor.

Carrier

A carrier result means that your test found one altered copy of a gene, called a variant, that is associated with a disease. Being a carrier typically does not affect your own health because the related disease is usually caused by having two altered copies of the gene, not just one. However, if your partner is also a carrier of this same genetic variant, you are at increased risk of having a child with the associated disease. In this case it may be important to test your partner to see if they are a carrier too. Blood relatives may also be carriers or affected with the disease.

Reproductive tests

Carrier screening

Positive

A positive result means that a significant genetic variant (change) was found, and you are a carrier of one or more disorders. Being a carrier typically does not affect your own personal health. However, it does mean that there is an increased chance of having a child with that disorder. This chance depends on the combination of your results and your reproductive partner’s results.

Next steps:

Test your partner to see if they are also a carrier. Then, work with your healthcare provider to understand what your test results mean for your future child.

Negative

A negative result means that no significant genetic variants (changes) were identified in any of the genes tested, and the chance that you are a carrier of these disorders is greatly reduced. No test can detect all possible carriers, so there is still a small chance that you are a carrier. This is called residual risk. Your residual risk for each of the disorders tested will also be included on your report.

Next steps:

Talk to your healthcare provider to understand what your results mean for you and your future family.

Non-invasive prenatal screening (NIPS)

NIPS is a screening test and only looks to see if there is increased risk. A positive result does not mean your baby definitely has a disorder. Most women who use NIPS discover that their risk of having a baby with a genetic condition is low.

Positive

A positive result means your pregnancy may be at increased risk for the disorders screened. Prenatal diagnostic testing is recommended to confirm all positive results.

For an in-depth explanation, watch this helpful video.

Negative

A negative result means your pregnancy is not at increased risk for the disorders screened. Your healthcare provider may recommend other types of testing throughout your pregnancy.

For an in-depth explanation, watch this helpful video.

Prenatal diagnostic testing

Normal

Chromosomal changes were not found in your baby’s sample. It is unlikely that your baby has a condition caused by changes to their chromosomes.

Your healthcare provider may recommend more testing during your pregnancy to look for other kinds of genetic disorders that are not caused by changes to the chromosomes.

Abnormal

A chromosomal change was detected in your baby’s sample.

Work with your healthcare provider to understand what your test results mean for you and your baby.

VUS (variant of uncertain significance)

A chromosomal change was detected in your baby’s sample, but it is not clear whether this change may cause problems for your baby. VUS results are relatively common and should not be used to make health decisions.

Your healthcare provider may request blood samples for analysis from you and your reproductive partner to help clarify the results.

Pregnancy loss analysis

Negative

Chromosomal abnormalities were not detected on your test, so they are unlikely to be the cause of loss. Your healthcare provider may recommend additional testing to help determine the cause.

Positive

Chromosomal abnormalities were detected on your test. Your doctor will provide more information about your results and will help you understand what to do next. Additional testing may be recommended for you and your reproductive partner.

Variant of uncertain significance (VUS)

In some situations, test results may be inconclusive. This means a genetic change was detected on your test, but that there is not enough information to provide a definitive answer. Your healthcare provider may recommend additional testing from you and your partner to help clarify your results.

VUS results are relatively common and should not be used to make health decisions.

Don’t see your test listed here?

Please talk to your healthcare provider to better understand the possible results. Genetic test results for certain clinical areas including rare diseases, neurological conditions, pediatrics, and preimplantation genetic testing vary widely due to the broad range of genes and disorders tested.

In order to help resolve variants of uncertain significance (VUS) in our panel test results, Invitae offers follow-up testing to selected family members of patients previously tested at Invitae, at no additional charge. This service is available when testing additional family members may clarify the disease-variant relationship. The goal is to better understand the clinical impact of the variant and, when possible, to decrease the uncertainty of the original test result. Ask your healthcare provider to contact Invitae if VUS resolution was recommended on your test report. For additional information about Invitae's VUS resolution program, please see our VUS resolution page.

Once Invitae receives your sample, your healthcare provider will typically receive the results in the following number of days on average:

Diagnostic panel testing: 10-21 calendar days

STAT panel testing: 5-12 calendar days (7 days on average)

Preimplantation genetic testing (PGT): 5-7 calendar days

Carrier screening: 10-21 calendar days

Proactive testing: 10-21 calendar days

Exome testing: 6-8 weeks on average

Our online portal makes it easy for you to know exactly where your sample is in the testing process. You can also see your results online once your doctor has reviewed and released them. The Invitae online portal can be found on our Sign In page.

We will release your report to your physician as soon as it is available. At this time, you can log into your portal account and click Request Results. Your physician will receive a notification prompting them to log in and release the results. If your physician does not release the results then Invitae will automatically make your report available within 30 days of your request.

You may receive an explanation of benefits (EOB) from your insurance company in the mail. This is not a bill. In most cases, Invitae will also receive this letter and will handle any appeals process. If your insurance company does not send the EOB to Invitae, we may request a copy of it from you.If there is an outstanding balance at the end of this process, you will receive a bill from Invitae along with instructions on how to pay.

Applications can be downloaded here.

Please contact us for more information.

Invitae is dedicated to making genetic testing affordable and accessible. If you don’t have insurance or prefer not to use it, we offer special patient-pay pricing.

Testing for specific conditions

Diagnostic panel testing: Our patient-pay pricing is $250 per Invitae-curated panel or, if your healthcare provider chooses to build their own test, $250 per clinical area. The vast majority of testing falls into a single clinical area. Examples of clinical areas are hereditary cancer and hereditary heart disease. In the very rare situation where a healthcare provider orders testing from more than one clinical area (for example, if they need to simultaneously diagnose a condition related to cancer and a separate condition related to cardiology in the same patient), the patient-pay price would be $250 per clinical area. In this situation, Invitae would also require two DNA samples and your testing would result in two separate reports generated by two different teams of clinical experts.

Exome testing: Invitae offers exome testing at $1,250 if your doctor wants to test your DNA, or $2,500 if your doctor wants to test your DNA and the DNA of one or both of your parents.

Screening for healthy adults

Carrier screening: Our patient-pay pricing is $250 for the first partner testedwhether you are tested with the Invitae Core Carrier Screen, the Invitae Broad Carrier Screen, or the Invitae Comprehensive Carrier screen. If your reproductive partner also gets tested through Invitae, their patient-pay price is discounted to $100.

Proactive genetic testing: Invitae offers proactive genetic testing at $250 for the Invitae Cancer Screen or the Invitae Cardio Screen, and $350 for the more comprehensive Invitae Genetic Health Screen (which assesses your risk for cancer and cardiovascular disease, and more). Please note that patient assistance programs are not available for these proactive tests.

Carrier screening + proactive genetic testing:If you order both carrier screening ($250) and a proactive genetic test, the price for the proactive test is as follows:Invitae Cancer Screen ($99) Invitae Cardio Screen ($99), Invitae Genetic Health Screen ($149).

Planning for a family

Carrier screening: Our patient-pay pricing is $250 for the first partner testedwhether you are tested with the Invitae Core Carrier Screen, the Invitae Broad Carrier Screen, or the Invitae Comprehensive Carrier screen. If your reproductive partner also gets tested through Invitae, their patient-pay price is discounted to $100.

Non-invasive prenatal screening (NIPS): Our patient-pay pricing for non-invasive prenatal screening is $99.

Prenatal diagnostic testing: Our patient-pay pricing for prenatal diagnostic testing is $450.

Pediatric diagnostic testing: Our patient-pay pricing for pediatric diagnostic testing is $450.

Pregnancy loss analysis: Our patient-pay pricing for pregnancy loss analysis is $450.

For tests not listed here, please contact us.

The fine print: To take advantage of this pricing, you must submit payment upfront and in full before results are released. In addition, your order must be placed online and you must provide your email address so that we can send you a link to pay online via credit card (or, if preferred, HSA or FSA card). This option does not allow Invitae to submit claims to your insurance company. It also does not allow Invitae to apply financial assistance programs.

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, and contact our Client Services team to learn more about your options.

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.

Yes, carriers are eligible for family follow-up testing.

1. Check your email

If your healthcare provider entered your email address when he or she ordered your test, an email was sent to you with the information you need to establish your Invitae online portal account and register your test.

Sign Up

2. Register using a confirmation code

If you did not receive an email, but you have a patient card with a confirmation code, go to www.invitae.com/patients and click Register Your Test to create your account and register your test.

If you already have an account, sign in and click Register a test. You'll be prompted to set contact preferences and then enter the confirmation code from your patient card and your date of birth.

Where do I find this confirmation code?

Each sample collection kit contains an information card with your confirmation code. This may have been provided to you by your healthcare provider or lab technician. If you don’t have this card, but you know your requisition number, this can also be used as your confirmation code.

Troubleshooting

If you get an error message, it's likely that we haven't received your sample yet. Try waiting a day or two and trying again; once we receive your sample, your confirmation code will be activated and linked to your order.

If more than a week has passed since your sample was mailed to Invitae and you are still having trouble registering your test, please contact Client Services.

If you do not yet have a test ordered, you can still create an account by navigating to the page.

All of Invitae’s tests must be ordered in consultation with a clinician. There are two ways you can order a genetic test:

Order through a healthcare provider. Talk to your healthcare provider about genetic testing with Invitae or find a local genetics provider near you through the Invitae Genetics Provider Network (GPN). Please sign in to your Invitae accountor, if you don't yet have one, create an accountto connect with our network of genetic counselors, geneticists, and genetic nurses.

Purchase a genetic test online. If you are interested in proactive testing, carrier screening, or diagnostic testing, you can purchase a test online with clinician support included throughout the process. Learn more.

The great majority of patients who select in-network insurance billing pay less than $100 out-of-pocket.

For testing ordered by a reproductive health provider (such as an ob/gyn, maternal-fetal medicine specialist, or reproductive endocrinology/infertility specialist)

Benefits investigation

For testing related to reproductive health, Invitae will conduct a benefits investigation after your order is placed. How it works:

Invitae will reach out to your insurance company to determine your estimated out-of-pocket cost.

In the next few days you will receive an email and/or a text from Invitae. Click on the link to view your estimated out-of-pocket cost and make a payment selection:

Proceed with insurance billing

Switch to self-pay (if you prefer not to use insurance)

If you don’t make a selection within 3 days after receiving the email/text notification, Invitae will bill your insurance.

proactive testing

This screenshot shows the Invitae portal with two payment options: this particular patient’s $100 estimated out-of-pocket cost and Invitae’s $250 patient-pay option.

For exome testing

Benefits investigation

For exome testing, Invitae will conduct a benefits investigation after your order is placed. How it works:

Invitae will reach out to your insurance company to determine your estimated out-of-pocket cost.

In the next few days you will receive an email and/or a text from Invitae. Click on the link to view your estimated out-of-pocket cost and make a payment selection:

Proceed with insurance billing

Switch to self-pay (if you prefer not to use insurance)

If you don’t make a selection within 3 days after receiving the email/text notification, Invitae will bill your insurance.

For proactive genetic health screening

Please note that Invitae does not offer insurance billing for, so the out-of-pocket estimate will not apply to these tests.

For other types of testing

If you have questions about Invitae’s payment options, our Client Services team is available to help. You can reach them at [email protected] or 800-436-3037.

If Invitae billed your insurance for your test and you received a patient responsibility statement from Invitae, you can make a payment here.

Invitae does not accept non-US based insurance at this time. Please contact your healthcare provider to see if our patient-pay option is right for you.

Genetic testing should be affordable and accessible to everyone who needs it. At Invitae, we believe in ethical and transparent billing. We offer multiple billing options and have an exceptional Client Services team ready to work with you.

INSURANCE (US only)

After billing insurance, most patients pay $100 or less out of pocket. (Please note that this is an average: your payment could be higher or lower, depending on your plan.) Contact your insurance company directly to get a personalized estimate of your out-of-pocket responsibility. You can also use our cost estimator for Invitae tests related to a personal or family history of breast, ovarian, colorectal, or uterine cancer.

Invitae will work directly with your insurance company to coordinate payment. Regardless of whether our laboratory is in-network or out-of-network with your insurance provider, Invitae is committed to making genetic testing affordable.

For insurance companies that require prior authorization, we will reach out in the event of a denial and you will have the opportunity to switch to patient pay, even if your test is already processing.

For proactive testing: Please note that Invitae does not accept insurance billing for proactive testing as this test is rarely covered by insurance.

For preimplantation genetic testing: Please note that Invitae does not accept insurance billing for preimplantation genetic testing as this test is rarely covered by insurance.

For exome testing: We will conduct a benefits investigation and contact you if your out-of-pocket responsibility is greater than $100 or if the authorization request is denied. We will inform you of your options, including payment plans, patient pre-pay, and cancelling the test.

PATIENT PAY

You have the option to skip insurance and pay for your panel test directly. Please see the FAQ What does testing cost if I don’t have insurance or prefer not to use it? Please note that this option requires upfront payment before results are released. In addition, your order must be placed online and you must provide your email address so we can send you a link to pay online using a credit card.

MEDICARE & MEDICAID (US only)

Medicare (and managed Medicare) and Medicaid (and managed Medicaid) beneficiaries may be eligible for Invitae testing when specific criteria are met.

Exceptions:

Exome testing: We do not accept Medicare (or managed Medicare) or Medicaid (or managed Medicaid) for exome testing at this time.

Microarray, karyotype analysis, FISH, maternal cell contamination studies, and amniotic fluid AFP/AChE: We do not accept Medicare (or managed Medicare) for microarray, karyotype analysis, FISH, maternal cell contamination studies, and amniotic fluid AFP/AChE at this time.

Microarray for pediatric diagnosis: We do not accept Medicaid (or managed Medicaid) for microarray for pediatric diagnosis except in the following states:

Alaska

Georgia

Massachusetts

New York

Tennessee

Arkansas

Iowa

Minnesota

Oklahoma

Utah

Colorado

Idaho

Mississippi

Oregon

Vermont

Connecticut

Indiana

Montana

South Carolina

Washington

Delaware

Kentucky

Nebraska

South Dakota

Wyoming

PATIENT ASSISTANCE PROGRAM

Invitae may be able to offer testing at limited or no expense to those who qualify through our Patient Assistance Program.

Please contact Client Services for further information.

If we haven't received your sample yet, then your confirmation code isn't yet linked to your order and you won't be able to register your test. Try waiting a day or two and trying again.

If your sample has arrived and you are still having trouble registering your test, please contact Client Services.

There are laws, such as the Genetic Information Nondiscrimination Act (GINA), that protect patients from genetic discrimination. To learn more about these laws, please visit ginahelp.org.

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.

Payment plans are available to cover higher than expected out-of-pocket expenses. Please contact our Client Services team for more information.

With an Invitae account, you'll be able to:

Initiate an order for a genetic test online. This is available for individuals in the US to access proactive testing, carrier screening, and diagnostic testing

Track the status of your order in real time

View and download results once they are ready and have been reviewed by your healthcare provider

Get connected with a healthcare provider through our Genetics Provider Network (GPN). Search here.

After you have initiated an order online with Invitae, you can sign in to our online portal to check the status of your test. When the test results are released, you’ll be able to review your results online.

If your doctor has ordered a test for you, register your test online by using your order’s RQ number. Once you register and sign in to our online portal, you’ll be able to check on the status of your test. You can also view your test results once your doctor releases them. The Invitae online portal can be found on our sign in page.

Here are some commonly-used genetic terms:

DNA: deoxyribonucleic acid (DNA) is the material inside each of your cells that contains all the genetic information your body needs to function

Gene: a piece of DNA that instructs your body to make a certain product

Chromosome: a large piece of DNA that carries many genes

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 a mutation) 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 a mutation) 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.

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.

Benign: Benign variants are changes to the DNA that do not lead to known health conditions. DNA contains many, many variants and most are benign. Benign variants are not included in your test report and you will receive a negative test result if no other variants are identified.

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.

Genetic testing: the process of analyzing an individual’s DNA to look for variants in their genes that are associated with health conditions.

Genetic counseling: an appointment with a healthcare provider specifically trained in medical genetics to help individuals understand the process of genetic testing, what their genetic test results mean, and the implications for themselves and their family members.

Pedigree: a chart showing the family tree of an individual that can be used to analyze inheritance of a trait or health condition.

Proband: the first person in a family to receive genetic testing, usually the person in the family who has a health condition. A proband’s genetic test results often times has implications for their family members.

Inherited variant: a genetic variant that was passed down from a parent or ancestor.

De novo variant: a genetic variant that was not passed from a parent or ancestor, but arose new in an individual’s DNA.

Inheritance pattern: how a trait ora health condition is inherited through a family.

Autosomal dominant: an individual with a single disease-causing (pathogenic or likely pathogenic) variant in a gene will be affected with or at risk for developing the disorder.

Autosomal recessive: an individual with at least two disease-causing variants, one in each copy of a gene, will be affected by the disorder. Learn more >

X-linked: X-linked inheritance means that the gene associated with the disorder is located on the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. Since males have only one X chromosome, pathogenic or likely pathogenic variants in genes on the X chromosome typically affect males more often than females. Learn more >

If you choose to schedule a comprehensive post-test genetic counseling session, your genetic counselor will briefly review your medical history, ask questions about your family medical history, review information about your genetic test results and what those results may mean for you and your family.

Please set aside up to one hour that will be free from interruptions. You may wish to ask your family members about your family medical history in advance (specifically, any diagnosed medical conditions, such as cancer or heart disease, and the age at which each medical condition was diagnosed). You may also wish to ask them about the cause of death/age of death for deceased family members. Please see this guide for additional tips about gathering your family history.

Genetic test results can have implications not only for an individual, but for an entire family. If you receive a positive result, your blood relatives may also benefit from testing.

We've designed a few templates to help you inform your family members about your test results and help them take the next steps.

Clicking on each link below will initiate the download of a .doc file.

Cancer

Family letter: General hereditary cancer

Family letter: BRCA1/BRCA2

Family letter: Lynch syndrome

Cardiology

Family letter: General inherited cardiovascular condition

Family letter: Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Family letter: Familial thoracic aortic aneurysm and/or dissection (TAAD)

Family letter: Long QT syndrome (LQTS)

Family letter: Hypertrophic cardiomyopathy (HCM)

Family letter: Familial hypercholesterolemia (FH)

Family letter: Dilated cardiomyopathy (DCM)

If your doctor entered your email address when he or she placed your test order, then an email was sent to you with the information you need to establish your Invitae online portal account. Your username for this account is your email address; you can set your password at the time you create your account. The online portal can be found on our Sign In page.

If you have lost your password or failed to receive the account setup email, please contact our Client Services team.

For more information, please see How do I register my test?

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.

Our experienced, board-certified genetic counselors are available by telephone to answer your questions about genetic testing, including:

On-demand conversations with genetic counselors who can answer brief questions about testing and test results

Comprehensive genetic counseling session, after you receive your test results from your healthcare provider, to discuss the results and what they mean for you and your family members*

To ask brief questions or schedule a comprehensive genetic counseling session, please call Invitae at 1-800-436-3037 Monday through Friday, 5 am to 5 pm Pacific and ask to speak with a genetic counselor.

These services are included in the cost of the testing. Learn more at www.invitae.com/patients/genetic-counseling.

*Comprehensive genetic counseling sessions available for hereditary cancer, cardiology, reproductive health, and proactive health screens only at this time.

Invitae’s genetic counseling services are included in the cost of your test.

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.

For orders that you initiate yourself online (available only in the US), you will receive a saliva collection kit in the mail. For more information on how to provide a saliva sample, please see this FAQ.

If your doctor is placing the order for you, and you choose to submit a blood sample, your doctor can arrange to have your blood drawn. If you are located in the US or Canada, 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.

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 at www.invitae.com/privacy.

To determine your genetic sequence, Invitae needs white blood cells that are found naturally in your saliva. These cells contain your DNA, which Invitae will test.

Your doctor can request that Invitae ship a saliva sample collection kit to your doctor’s office or to your home.Once you receive your kit, follow the instructions inside to submit your sample.

Please keep the following in mind:

Before providing your sample, do not drink (even water) for 30 minutes

Collecting saliva too soon after drinking anything, including water, dilutes your saliva and reduces the amount of DNA.

Before providing your sample, do not eat, smoke, or chew gum for 30 minutes

In addition to diluting your sample, you could be introducing non-human DNA to your sample.

Bubbles do not count

After providing your sample, make sure that the liquid saliva reaches the “Fill to” line; any bubbles should be above the line. This will ensure that enough saliva is collected.

Ongoing medical treatment

If you’re undergoing medical treatment that reduces your white blood cell count (such as chemotherapy), it’s best to wait until your white blood cell count has returned to normal before providing a saliva sample.

It’s easier to collect large amounts of saliva in the mouth before spitting (rather than spitting small amounts more often).It takes most people 2 to 5 minutes to provide a saliva sample. If you’re still having trouble, try:

Closing your mouth and wiggling your tongue

Gently rubbing the outside of your cheeks, just behind your back teeth

Making chewing motions with your mouth

Smelling or imagining smelling sour foods such as lemons

Thinking about your own favorite food

If the suggestions above don’t work, try placing a few granules of sugar (just enough to taste it) or one drop of lemon juice on your tongue. This small amount of food won’t affect your results and could help stimulate saliva.

Patients undergoing testing for hereditary conditions associated with cancer, cardiology, proactive health screens, and carrier screening may call Invitae's genetic counselors at 800-436-3037 anytime during business hours to:

ask general questions about the genetic testing process

briefly review your genetic test results (after they are released by your healthcare provider)

schedule a comprehensive post-test genetic counseling session

Invitae’s experienced, board-certified genetic counselors are available by telephone to answer patients’ brief questions about genetic testing and genetic test results.

Patients being tested for hereditary conditions associated with hereditary cancer, cardiology, reproductive health, and proactive health screens also have the option to schedule a more comprehensive post-test genetic counseling session specific to their own medical and family histories, if desired. There is no additional charge for patients to access these services. Please call 800-436-3037 to be connected with a genetic counselor.

Genetic information can play an important role in diagnosing an inherited conditions, understanding unexplained symptoms, proactively preparing for the future, and planning for a healthy pregnancy.

The condition guides below explain more about how genetics can be beneficial in relation to specific diseases and conditions.

Hereditary cancer

Condition guides:

Hereditary breast cancer

Hereditary colorectal cancer

Hereditary ovarian cancer

Hereditary endometrial cancer

Printable guides:

Genetic testing for hereditary cancer

Hereditary breast cancer

Hereditary gynecologic cancers

Hereditary colorectal cancer

Hereditary prostate cancer

Heart conditions

Condition guides:

Arrhythmia

Brugada syndrome

Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy)

Catecholaminergic polymorphic ventricular tachycardia

Long QT syndrome

Cardiomyopathy

Arrhythmogenic right ventricular cardiomyopathy (Arrhythmogenic cardiomyopathy)

Dilated cardiomyopathy

Hypertrophic cardiomyopathy

Aortopathy & connective tissue disorders

Thoracic aortic aneurysm and/or dissections

Marfan syndrome

Hypercholesterolemia

Familial hypercholesterolemia

Printable guides:

Hereditary heart conditions

Neurological disorders

Condition guides:

Muscular dystrophy

Duchenne and Becker muscular dystrophy

Neuromuscular disorders

Neuromuscular disorders

Neuropathies

Neuropathies

Pediatric & rare disorders

Condition guides:

Epilepsy

Epilepsy

Printable guides:

Pediatric diagnostic testing

Reproductive health

Printable guides:

Understanding carrier screening

Non-invasive prenatal screening

Preimplantation genetic testing (PGT)

Pregnancy loss analysis

Prenatal diagnosis

Looking for information in languages other than English? Please see this FAQ.

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 order 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 testing for you, we've developed this letter you can share with your doctor to get the process started. You can also find a qualified genetics professional in your area through the Invitae Genetics Provider Network (GPN). Please sign in to your Invitae accountor, if you don't yet have one, create an accountto connect with our network of genetic counselors, geneticists, and genetic nurses.

How to request an order online

If you are unable to work with your own doctor, you have the option to order a genetic test online by consulting with a clinician in Invitae’s network. Tests available online include proactive testing, carrier screening, and diagnostic testing. Learn more.

Occasionally, the presence of a genetic variant (or change) that does not increase an individual’s own risk of developing a specific medical condition, but that may be passed within an individual’s family, may be reported. This is referred to as carrier status. Please note that the Invitae proactive health tests are not intended to serve as a comprehensive carrier screening.

Learn more about our comprehensive carrier screen.

Both the Invitae Cancer Screen and Invitae Cardio Screen are $250. The Genetic Health Screen, which includes all genes analyzed in the Cancer and Cardio Screen, is $350. We do not accept health insurance for our proactive screens. Payment can be made by credit card or through HSA/FSA accounts.

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.

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 and explains the lack of widespread genetic testing for these “complex diseases,” or conditions that are caused by a combination of genetic and environmental factors. To provide a useful and scientifically sound genetic test, Invitae has chosen to include only genes with established medical actionability, including those recommended by the American College of Medical Genetics and Genomics and other prominent genetics experts.

Guidelines for follow-up care and evaluation currently exist for the majority of the genes included in the Invitae Cancer Screen, Cardio Screen, and Genetic Health Screen. These guidelines can be used by healthcare professionals to ensure appropriate and effective follow-up medical care for their patients.

Additionally, the presence of a genetic change that does not increase an individual’s own risk of developing a specific medical condition, but that may be passed within an individual’s family (also known as carrier status), may also be reported.

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. This test will give you insights into important health risks you may or may not have based on genetic variants (sometimes known as mutations or changes). Learn more here.

The Invitae Cancer Screen analyzes genes associated with hereditary cancers; the Invitae Cardio Screen analyzes genes known to be associated with cardiovascular conditions. The Invitae Genetic Health Screen combines tests for all the conditions in the cancer and cardio tests, along with other actionable medical conditions.

If you receive a positive result that indicates you are at an increased risk to develop one of these disorders, you and your doctor can seek early care, regular monitoring, lifestyle modifications, or possibly initiate an early intervention to prevent the onset of a disease.

Genetic counselors are healthcare providers specifically trained in medical genetics; they are experts at explaining complex genetic concepts and analyzing family history to understand disease risk. They also help people understand what their genetic test results mean for themselves and family members.

Who should see a genetic counselor?

Why is it important to know my family health history?

A genetic counselor will likely ask you about your family health history. The video below discusses why it's important to understand your family health history. This flyer may also help.

Patients can access proactive testing in two ways: with your clinician or online. If you have a healthcare provider who can order testing for you, print this letter and share it with them to request an Invitae proactive screen.

Patients in the US are also able to initiate an order for proactive testing online. For any order initiated online by a patient, an independent clinician will review and authorize all the orders, as well as review the results before they are released to the patient.

Learn more

HOW TO PROVIDE A SAMPLE

You will need to provide a DNA sample to proceed with genetic testing. Usually, this means either a blood sample or a saliva sample.

If you choose to submit a blood sample, your doctor can arrange to have your blood drawn.

If you choose to submit a saliva sample, your doctor can request that Invitae ship a saliva sample collection kit to your doctor’s office or to your home. Once you receive your kit, follow the instructions inside to submit your sample. The following video can also help:

English

Arabic

Chinese

French

German

Italian

Portuguese

Russian

Spanish

Thai

HOW TO SHIP YOUR SAMPLE FROM OUTSIDE THE UNITED STATES

Don’t wait! Mail the saliva sample as soon as possible after collection.

Package the kit

After providing your sample, ensure the tube is properly labeled with your name (as your doctor listed it on the order form), your date of birth (MM/DD/YYYY), and the date you collected your saliva sample.

Place the saliva tube in the small plastic bag and seal it.

Place this bag in the cardboard box.

If your doctor gave you an order form, include it in the box.

Place the box inside the shipping bag.

Seal the bag.

Apply the document holder to the outside of the bag.

Prepare the documents

Locate the pro forma invoice (included in your collection kit).

Enter today’s date in the upper right corner.

Leave the “Invoice #” line blank.

In the “Tax ID” section, enter your government-issued tax identification number if you have one.

Under “Est. ship date,” enter the date you will mail the package.

Under “Carrier,” enter the shipping company you will use to send the package (e.g., FedEx, DHL, or another carrier).

Under “Port of loading,” enter the city and country you will ship from. You can leave “Port of discharge” blank.

Under “AWB number,” enter your shipping tracking number, which can be found on the air waybill.

Sign and date the form.

Leave all other lines blank.

Locate the customs declaration letter (included with your collection kit)

There is no need to write anything on this letter

Locate the air waybill (included with your collection kit)

You may use any shipping company to return your sample to Invitae

If using a carrier other than FedEx, ask your shipping company for their air waybill

If using FedEx, follow the instructions below.

In section 4a, select FedEx Int. Priority

Leave section 4b blank

In section 5, select FedEx Pak

Leave sections 6a and 6b blank

If section 7 is currently blank, enter either your personal FedEx account number (if you have one) or your credit card payment information, being sure to check “Sender” for both “Bill transportation charges to:” and “Bill duties and taxes to:”.

In section 8, sign on the “Sender’s Signature” line

Insert the pro forma invoice(s), customs declaration letter, and air waybill inside the document holder. Do not seal the document holder.

Drop off or schedule a pickup

Schedule a pickup by visiting fedex.com or bring your kit to your local FedEx office.

Please note that if section 7 is blank on your air waybill, return shipping costs are the sender’s responsibility.

QUESTIONS?

We’re here to help! Contact us at [email protected], +1 (415) 930-4018, or www.invitae.com/contact-us.

Please refer to our website to learn how to get a family follow-up testing for a variant identified in your family. If you have any questions, please contact us.

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.