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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, targeted 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 involves full analysis of the gene in which the original family member’s variant was identified. The report will include any pathogenic or likely pathogenic variant(s) identified in that gene.

Family variant testing is provided to eligible family members for just $200 per gene for each family member tested. On average, results are available three weeks 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. Additional genes may be ordered as a new test at our standard rates; please see the Billing information web page for details.

Who is eligible?

A family member of the original patient is eligible if all of the following criteria are met:

  • The original patient was tested at Invitae
  • A pathogenic or likely pathogenic variant was identified in the original patient's test report*
  • The family member is at risk for carrying the same variant

*If the original patient's test report identified a variant of uncertain significance (VUS), VUS resolution may be available at no additional charge to eligible family members. Family members of patients who don’t qualify for VUS resolution at no additional charge may be able to take advantage of family variant testing.

What if the original patient was tested outside of Invitae?

Family variant testing is not available to families if the original patient’s pathogenic variant was detected by a lab other than Invitae. For these cases, we offer single-gene analysis of the entire gene in question for our regular price.*

If you would like to order this test, we require a copy of the family member's positive test result to verify that the variant in question is likely to be picked up by our assay. A positive control may be requested in cases where variant nomenclature is ambiguous or where the variant is of a type that may be refractory to analysis by NGS methods. Unless a positive control is explicitly requested by Invitae, additional samples will not be analyzed.

How do I order family variant testing?

To order family variant testing, place an order for the gene in question for each new patient. In the indication for testing and family history fields please provide:

  • The order number “RQ number” of the original proband
  • 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:

If you contact client services via email, please do not include any medical records or medical information with your initial inquiry.

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.