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Family variant testing

Genetic test results may have health implications not only for an individual, but for an entire family.

After a patient receives 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 make informed decisions about their health.

Invitae’s family variant testing is offered at a reduced price and involves full analysis of the gene in which the original family member’s variant was identified. The report will include information about the variant in question, and may include other variants identified in the gene as well.

Results are available 10-21 calendar days (14 days on average) from the time we receive the sample.

Please note that Invitae’s family variant testing applies only to the gene in which the original family member’s variant was identified in either our panel or exome testing.

Who is eligible?

A family member is eligible for reduced-price family variant testing if he or she is a biological relative and if the variant occurs within our reportable range (generally, coding regions +/- 10 bp into intronic regions). Please contact Client Services if you are unsure if the variant qualifies.

Note that if the original patient's test report identified a variant of uncertain significance (VUS) at Invitae, VUS resolution may be available at no additional charge in some situations for panel testing, but not for exome testing. Please inquire with Client Services for more information.

How do I order family variant testing?

To order family variant testing, place an order for the gene in question. In the family history field please provide:

  • The order number “RQ number” of the original proband if they were tested at Invitae. If the original proband was tested at another lab, please submit a copy of the outside lab’s result which includes the gene the family variant was identified in, transcript ID (e.g., NM_85924.2) and variant name (e.g., c.145T>C, p.Trp38Arg)
  • Information on how the family member to be tested is related to the original proband
  • A pedigree of affected family members (recommended) and/or affected status of the patient
Sign In

If you have any questions about family variant testing with Invitae, you can contact us via the secure messaging system in your online account. To access this system, sign in to your Invitae account, view your order history, and select the order number “RQ number” of the original proband. You can then click on the “Messages” tab to contact us about family variant testing and upload the patient's information in a secure, HIPAA-compliant manner.

Alternatively, you can contact our Client Services team:

Family History Tool

We encourage use of the Invitae Family History Tool to easily submit a pedigree for this program.
Learn more about this free app.