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Invitae's new approach to family variant testing

Follow-up testing at no additional charge for blood relatives

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At Invitae, we are committed to lowering the cost of genetic testing and removing barriers to access. We offer family variant testing at no additional charge for all blood relatives of patients who undergo diagnostic or proactive panel or gene testing for a hereditary condition at Invitae and are found to have a pathogenic or likely pathogenic variant. Our family variant testing involves full analysis of the gene in which the original family member’s variant was identified.

Genetic insights are a family affair

For patients who undergo diagnostic or proactive panel or gene testing at Invitae and are found to have a clinically actionable variant, their blood relatives can have up to a 50% risk of having the same variant.

  • Identifying the presence of a variant—sometimes even before symptoms occur—can enable preventive medical management
  • Identifying the absence of a variant can also have significant implications for relatives

Recent evidence shows that only a small percentage of relatives pursue follow-up testing, in part due to cost.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 As part of our commitment to lowering barriers to genetic testing, we now offer testing to blood relatives at no additional charge for our diagnostic and proactive panels.

Eligibility & requirements

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How to order

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Eligibility & requirements

  • Blood relatives of the original patient
  • The original patient was tested at Invitae with a panel or single-gene test
  • A pathogenic or likely pathogenic variant was found on a gene or panel test
  • Order must be placed within 90 days and samples must be received within 100 days of original patient’s test report
  • Available for diagnostic panel and gene testing only; not available for exome or reproductive health testing

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 to order

  1. Sign in to your Invitae portal account and start an order
  2. In the "reasons for testing" section please provide:
    • The order number "RQ number" of the original patient tested at Invitae
    • Relationship to the original proband
    • A pedigree of affected family members (recommended) and/or affected status of the patient

If you prefer to place your order on paper, you can download the Family Variant Testing/VUS Resolution requisition form (TRF920).

For family members who do not meet the criteria above, follow the steps above without including an RQ number. The information on family relationship to the original proband is required and a pedigree is still recommended.

Have questions? Log in to your account and click on the “Messages” tab to contact us about family variant testing and upload the patient's information in a secure, HIPAA-compliant manner.

Additional resources for patients

References:

1. Christiaans I et al. Update of genetic counseling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet. 2008;16(10):1201-7.
2. Sharaf RN et al. Uptake of genetic testing by relatives of Lynch syndrome probands: a systematic review. Clin Gastroenterol Hepatol. 2013;11(9):1093-100.
3. Kasparian NA et al. Genetic testing for melanoma risk: a prospective cohort study of uptake and outcomes among Australian families. Genet Med. 2009;11(4):265-78.
4. Sturm AC. Cardiovascular cascade genetic testing: exploring the role of direct contact and technology. Front Cardiovasc Med. 2016;3(11).

Looking for information about VUS resolution?

To help resolve variants of uncertain significance (VUS) in our diagnostic test results, Invitae offers follow-up testing at no additional charge to select family members of patients tested at Invitae.

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