Genetic testing: What you need to know

Genetic testing can help you make better health decisions. Learn what it can tell you and how it works.

Genetic testing: What you need to know

Genetic testing can help you make better health decisions. Learn what it can tell you and how it works.

Are you considering pregnancy or already pregnant? ​​​​​​

Genetic testing can guide important health decisions before, during and after pregnancy. From carrier screening to prenatal testing to preimplantation genetic testing, genetic testing gives you more options.

Are you interested in understanding your risk of cancer and heart disease? 

Genetic testing can help you understand your inherited risks for developing cancer and heart disease. It can also help determine the cause--and in some cases the best treatment—if you have cancer or heart disease.

Just want to understand more about genetics and genetic testing?

Read on to learn more about how genetics can affect your health, what you can expect from genetic testing, and how you can use the results to make better health decisions, both now and in the future.

Genetic testing at Invitae

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Learn about what genes are, how your genes can affect your health, and why genetic testing can be an important part of your healthcare.

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Watch Invitae experts discuss the importance of genetic testing and our mission of making genetic information affordable and accessible for billions of people.

Additional resources

  • Looking for more details on how genetic testing works? This printable brochure has all the details. 

  • Want to start a conversation about genetic testing with your healthcare provider? This letter for your doctor is a place to start.

  • Want to learn more about genetic counseling? Click here.

  • Want to connect with other patients and learn more about advocacy groups, research studies, and clinical trials?  Join the Invitae Patient Insights Network.

Reproductive genetic testing

 

Carrier screening

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Carrier screening can unlock valuable information about your risk of having a child affected by a genetic disorder.

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Invitae makes testing simple. Learn how to order comprehensive carrier screening online with Invitae.

Non-invasive prenatal screening (NIPS)

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Non-invasive prenatal screening (NIPS) can reveal the likelihood of your baby having specific inherited disorders. NIPS can also determine your baby’s sex earlier than ultrasound.

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If you receive a positive NIPS result, this video can help you understand what that means and next steps to confirm the result.

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If you receive a negative NIPS result, this video can help you learn more.

Preimplantation genetic testing (PGT)

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When you are going through treatment for infertility, you want to plan for success. That’s why so many families make preimplantation genetic testing (PGT) a standard part of their IVF treatment plan.

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Join certified genetic counselor Julia Wilkinson, M.S., to learn about potential PGT results.

Additional resources about reproductive genetic testing

   

Printable guides:  

Carrier screening

 Download

Non-invasive prenatal screening (NIPS)

 Download

Preimplantation genetic testing (PGT)

 Download

Prenatal diagnostic testing

 Download

Pregnancy loss analysis

 Download

Understanding specific results:

Low penetrance alleles

 Download

Metabolic conditions and pseudodeficiency alleles

 Download

Fragile X

 Download

Alpha-thalassemia

 Download

Cystic fibrosis and the polyT/TG tracts

 Download

PGT-A results

 Download

PGT-A results: Mosaicism

 Download

Spinal muscular atrophy

 Download

Genetic testing for cancer and heart disease

   

If you do not have a personal history of cancer or heart disease but would like to learn whether you’re more likely to develop certain conditions, please see the videos below to learn more. You can also download this patient guide to read more about proactive genetic testing.

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Join certified genetic counselor Sienna Aguilar, M.S., to learn about proactive genetic testing, which can reveal if you are at increased inherited risk for some types of cancer and heart disease.

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Learn how you can initiate a proactive genetic test with Invitae online.

If you had or currently have cancer or heart disease—or if several of your family members have—you may want to work with a healthcare provider to determine which test is right for you. Please see the resources below to learn more.

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Learn how you can initiate an Invitae genetic test online and be connected with a healthcare provider.

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Learn how you can access genetic testing working with your own healthcare provider.

Additional resources about hereditary cancer testing

   

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Join certified genetic counselor Melissa Strassberg, M.S., as she discusses the reasons for and the benefits of genetic testing for hereditary cancer as well as the potential results.

Printable guides

Genetics of hereditary cancer

 Download

Breast cancer

 Download

Gynecologic cancers

 Download

Prostate cancer

 Download

Colorectal cancer

 Download

Understanding your results

There are three potential results from hereditary cancer genetic testing. These guides walk you through what each type of result could mean for you.

Positive test result FAQ

Negative test result FAQ

Variant of uncertain significance FAQ

Letters for family members

Genetic test results can have implications not only for an individual but for an entire family. If you receive a positive result on one of our cancer tests, your blood relatives may be eligible for family variant 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:

Hereditary cancer template letter

 Download

Hereditary breast and ovarian cancer template letter

 Download

Lynch syndrome template letter

 Download

Printable guide

Genetic testing for hereditary heart conditions

 Download

Letters for family members

Genetic test results can have implications not only for an individual but for an entire family. If you receive a positive result on one of our cardiology tests, your blood relatives may be eligible for family variant 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:

General inherited cardiovascular condition letter

 Download

Arrhythmogenic right ventricular cardiomyopathy (ARVC) letter

 Download

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

 Download

Long QT (LQT) syndrome letter

 Download

Hypertrophic cardiomyopathy (HCM) template letter

 Download

Familial hypercholesterolemia (FH) letter

 Download

Dilated cardiomyopathy (DCM) letter

 Download

Still have questions?

Our FAQs offer:

  • details on what happens in a genetic counseling session
  • an overview of how to prepare for your session
  • more information on how to reach an Invitae genetics expert