WHY TEST?

Identify health risks that may affect you and your family

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 variant 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.

Invitae offers family variant testing at no additional charge for all first-degree relatives* of patients who undergo gene or panel testing for a hereditary condition at Invitae and are found to have a positive test result.

I received a positive (pathogenic or likely pathogenic) 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 disease. This knowledge can allow them to look into options for prevention and early detection. If they test negative, their risk of developing the disease may be similar to 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. Doctors can place genetic testing orders through Invitae’s online portal.

My family member received a positive (pathogenic or likely pathogenic) 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 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 general population.

There are a few steps you can take:

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

  • Print out this letter to take to your doctor.

  • Make an appointment with your doctor, and bring the above documents with you. Some doctors will order genetic testing directly, while others will refer you to a genetic counselor. To find a genetic counselor, please visit www.findageneticcounselor.com or ask your doctor.

  • Learn about how genetic testing works and Invitae’s genetic counseling services.

Frequently asked questions

How can I learn more about the medical condition in my family?

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.

How can my doctor order genetic testing?

Please make sure to take a copy of your family member’s test results to your doctor, along with this letter. Your doctor may order your genetic tests online by following four simple steps. If your doctor needs any assistance, they can call us at 800-436-3037.

How much does family variant testing cost?

Invitae will perform family variant testing at no additional charge for parents, siblings, half-siblings, and children of the original family member that received a pathogenic or likely pathogenic result through Invitae. Orders must be placed within 90 calendar days of the original family member’s test report. After 90 days, family variant testing can be submitted for reimbursement to your insurance company, or is available at a reduced cost.

Should minors get genetic testing?

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.

Will getting genetic testing have implications on my health, life, or disability insurance?

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.

*First degree relatives include the mother, father, siblings (full and half), and children of the original patient whose disease-causing variant was found through routine diagnostic testing at Invitae.