Individual 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 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 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 non-invasive prenatal screening

-Testing related to preimplantation genetic testing

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. This is possible for:

-proactive testing

-carrier screening

-diagnostic testing for cancer patients & their families

-genetic illness

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 (available only in the US), 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. 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.

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

Follow the instructions for providing a saliva sample described in the FAQs above.

Mail the sample to Invitae as soon as possible after collection.

1. 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.

• 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.

• 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 globalsupport@invitae.com, +1 (415) 930-4018, or www.invitae.com/contact.

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:

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.

Learn more on these webpages:

Preparing for a healthy pregnancy

Proactive testing to stay healthy

Diagnostic testing for cancer patients & their families

Understanding a genetic illness

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
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:

Duchenne and Becker muscular dystrophy
Neuromuscular disorders
Neuropathies

Pediatric & rare disorders

Condition guides:
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.

Yes! We have a number of patient guides available in Spanish, Portuguese, Mandarin, and French.

Spanish:

• Genetic testing, simplified
• Hereditary cancer
• Hereditary breast cancer
• Hereditary gynecologic cancers
• Hereditary colorectal cancer
• Hereditary prostate cancer
• Hereditary heart conditions
• Carrier screening
• Non-invasive prenatal screening (NIPS)
• Preimplantation genetic testing (PGT)
• Proactive testing

Portuguese:

• Hereditary breast cancer
• Hereditary colorectal cancer
• Hereditary heart conditions
• Carrier screening
• Non-invasive prenatal screening (NIPS)

Mandarin:

• Hereditary cancer
• Understanding carrier screening
• Non-invasive prenatal screening (NIPS)
• Preimplantation genetic testing (PGT)

French:

• Hereditary cancer
• Breast cancer
• Carrier screening
• Non-invasive prenatal screening (NIPS)

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.

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 is 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.

Reproductive and family health testing

Invitae offers a range of reproductive and family health testing options. These include:

• Carrier screening

   to determine the risk of passing a genetic condition on to a child, providing actionable next steps for a couple's reproductive journey

• Non-invasive prenatal screening (NIPS)

   to determine if your child has an increased risk for common genetic conditions, like Down Syndrome

• Preimplantation genetic testing

   to identify appropriate embryos for transfer and optimize IVF outcomes

• Prenatal diagnostic testing

   to evaluate a pregnancy for fetal chromosomal abnormalities

• Pregnancy loss analysis
  to determine if a miscarriage, fetal death, or stillbirth was due to a fetal chromosomal abnormality

Invitae partners with other companies to offer sponsored, no-charge testing—and in some cases genetic counseling—for patients who meet eligibility criteria.

The 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.

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.

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.
• Provide your family members with a copy of your genetic test report. We know that discussing your health can be difficult, so we created template letters to family members to help begin the conversation.
• 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.

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 are different from other labs' tests because they provide results with a clear 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 available directly to consumers because they provide comprehensive results about a variety of important medical conditions that have a clear 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

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 or eliminate their risk of disease.

Learn more in the Family variant testing section above.

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

• Talk to your doctor. 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. 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.

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.

If you're interested in comprehensive carrier screening, this test may be appropriate for you.