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Family variant testing

Invitae offers family variant testing (FVT) 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 pathogenic or likely pathogenic variant.*

At Invitae, we understand that a genetic diagnosis can affect an entire family. If the underlying cause of your patient’s condition is a pathogenic (disease-causing) variant, their first-degree family members have a 50% risk of having that same variant. Early diagnosis of family members with a pathogenic variant—sometimes even before symptoms occur—can enable preventive medical management and a better chance of avoiding the development of serious diseases. However, only a small percentage of relatives pursue genetic testing after a pathogenic variant is found in their family.1,2 Reasons relatives do not pursue testing include lack of knowledge about the potential disease risk, family communication barriers, lack of access to genetics services, and cost of testing.3,4

 

Who is eligible for testing at no additional charge?

  • First-degree relatives (mother, father, siblings [full and half], and children) of a patient whose disease-causing variant was found through routine diagnostic testing at Invitae

What are the requirements?

  • The original patient had diagnostic genetic testing at Invitae

  • The FVT order must be placed within 90 days of the original patient’s test report date

  • A Pathogenic or Likely Pathogenic result was found in the original patient’s test report

If your patient does not meet these criteria, Invitae still offers testing at a reduced price, which may be covered by insurance. Visit www.invitae.com/billing to learn more.

How do I order family variant testing through Invitae’s online portal?

To order family variant testing, start an order for the gene in question.
Sign In

In the “reasons for testing” section please provide:

  • The order number “RQ number” of the original proband tested at Invitae

  • 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

For variants found in another lab, you begin the FVT order the same way, except there will be no “RQ number” entered for the original proband test. The information on family relationship to the original proband is required and a pedigree is still recommended.

How do I order family variant testing on paper?

To order on paper, please use the Family Variant Testing/VUS Resolution requisition form (TRF920).

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:

Resources for patients: