Individual FAQs: Genetic Testing

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 account—or, if you don't yet have one, create an account—to 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.

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 account—or, if you don't yet have one, create an account—to 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.

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.

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 videos 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.

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.

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.

This video can also help:

Saliva Sample Collection Guide

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:

What is genetic testing? – Patient Help Center

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:

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)

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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. To view our complete proactive offering, please visit our proactive testing page.

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 Preimplantation genetic testing to identify appropriate embryos for transfer and optimize IVF outcomes Prenatal diagnostic testing is 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 Non-invasive prenatal screening (NIPS) to determine if your child has an increased risk for common genetic conditions, like Down Syndrome

Visit this page to view a list of adult-onset and pediatric disorders for which Invitae offers testing. If you have a personal or family history of one of these conditions, genetic testing could be appropriate.

Invitae also offers testing for a range of reproductive and family health indications, including:

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 Preimplantation genetic screening to identify appropriate embryos for transfer and optimize IVF outcomes Prenatal diagnosis 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

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 risk for that same condition.

Family members who test positive can work with their doctors to make a plan for prevention or early detection of disease.

Read more about your family member’s condition in our condition guides. 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.

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.

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’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.

Our tests use a method called next-generation sequencing, which analyzes your genes for many medically-relevant, disease-causing variants (changes). We also analyze deletions and duplications in your genes that may be linked to an increased risk of disease, which can be difficult to detect with other methods of genetic testing.

Because of the important health implications of our proactive tests, all of Invitae’s tests must be ordered in consultation with a clinician. There are two ways to order proactive tests:

they can be ordered through your clinician, or they can be ordered online (US only). 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. If it is determined that you are at an increased risk for an inherited condition on our test, we encourage you to work together with a genetic counselor or your doctor to develop the best care strategy.

Although many of the genes included in Invitae’s proactive health tests are considered adult-onset conditions (i.e., they are not often seen in young children), there may be implications of this testing for other biological relatives. If an individual decides to pursue proactive testing, he or she may want to seek clinical genetic counseling to determine how and when to approach family members who may also be at risk. Just as with anyone seeking proactive testing, the earlier this information is shared, the more likely proper interventions can be implemented to potentially reduce or eliminate the risk of disease onset.

Learn more about family testing with Invitae.

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.

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.