Family Extension Service

Extend your patient’s diagnostic evaluation to cover Familial Variant Testing for up to 5 first degree family members!

  • This service is currently available only in Canada and for US hospitals contracted with Blueprint Genetics
  • Available for up to 5 first degree family members whose testing is ordered and samples are received within 12 months from the original index patient’s report date
  • Familial Variant Testing is available for ‘likely pathogenic’ and ‘pathogenic’ variants only
  • Blueprint Genetics recommends genetic counselling for all individuals undergoing genetic testing
  • To order this service either: 1) select Family Extension Service on the requisition for index orders in Nucleus OR 2) select the Family Extension Service option in Analysis Type section on the requisition form.
  • Familial Variant Testing is ordered through the normal procedure using our standard requisition with no additional promotion code required
  • For more information, see below!

Contact our Customer support for any questions:
Phone: 650 452 9340
Fax: 650 446 7790

Blueprint Genetics understands the unique pressures of practicing genomic medicine.

Genetic assessment and testing is frequently a long and involved process. With the rapid increase in genetic knowledge comes an increased demand for new and varied patient populations to be seen by a medical specialist. Genetics Clinics are overwhelmed with referrals and are chronically short-staffed such that it may take several months to years for a patient and family members to be seen following a referral.

If an index patient’s genetic testing is positive and a diagnosis has been confirmed then genetic testing is often available for family members should they desire. However, Familial Variant Testing may also be delayed by long waiting lists, challenges with insurance billing or funding applications, and uncertainty surrounding reimbursement for testing.

How can Blueprint Genetics help?

Blueprint Genetics is very excited to introduce the Family Extension Service. This innovative packaged service allows for up to 5 first degree relatives of the index patient to have Familial Variant Testing without additional costs. The diagnostic window for the selected family members is 12 months after the date of the primary index patient’s report. Family Extension Service is only for pathogenic or likely pathogenic variants that were previously identified in the index patient.

Blueprint Genetics believes this new service model will improve access to family member genetic testing without adding additional burden to the clinician or the patient.  Clinicians and/or hospitals will not have to apply for additional funding or wait for insurance pre-authorization or face situations where payers decline to cover the cost.

By accepting first degree relative samples for up to a year after the index patient’s result have been reported, Blueprint Genetics aims to simplify the genetic testing process for first degree family members.  This will allow time for these family members to be referred and seen by their local health care provider while also allowing the family members time to investigate the pros and cons of genetic testing.

Please see below for additional information regarding eligibility.


Family Extension Service FAQ

Eligibility requires the following:

  • Family Extension Service is selected on the requisition form when the initial index patient panel test is ordered
  • Pathogenic or likely pathogenic variants are identified in the index patient which are consistent with the family history and explain the diagnosis
  • Blueprint Genetics will provide Familial Variant Testing for up to 5 first degree relatives (including half-siblings) of the index patient with no additional costs
  • Familial Variant Testing testing must be ordered and the samples must be received within 12 months of the date the index patient’s report was initially issued
  • Testing must be ordered by a qualified health care provider.
  • Family Extension Service is currently available to patients and families in the US through institutional direct billing at laboratories that are contracted with Blueprint Genetics.


AD   1 pathogenic and consistent with phenotype
  1 likely pathogenic and consistent with phenotype
AR   Pathogenic X 2 and consistent with phenotype
  Likely pathogenic X 2 and consistent with phenotype
  1 pathogenic and 1 likely pathogenic and consistent with phenotype
Both AR and AD documented   1 pathogenic and consistent with family history and phenotype
  1 likely pathogenic and consistent with family history and phenotype
  Pathogenic X 2 and consistent with family history and phenotype
  Likely pathogenic X 2 and consistent with family history and phenotype
  1 pathogenic and 1 likely pathogenic and consistent with family history and phenotype
X-linked   1 pathogenic and consistent with phenotype
  1 likely pathogenic and consistent with phenotype
*conditions apply

The Family Extension Service can be added on to any index patient panel ordered from Blueprint Genetics.

  • Place the order through our online portal, Nucleus, or with our paper requisition form by selecting the Family Extension Service option in the Analysis Type section of the requisition form of the index patient order form. This will highlight the index patient in our system. Eligible first degree relatives will be analysed as part of this service when their samples are received with a requisition requesting that Blueprint Genetics proceed with Familial Variant Testing.
  • You do not need a special promotion code when placing the follow up Familial Variant Testing order(s).
  • In situations where there is a first degree relative that receives Familial Variant Testing at Blueprint Genetics but who is NOT included under the terms of our Family Extension Service (such as cases with more than 5 first degree family members) we request that the ordering clinician include this information on the requisition form.
  • Please clearly indicate the relationship of the family member to the index patient on the requisition form.

No, the service only applies to cases where the primary analysis reveals a diagnosis (likely pathogenic or pathogenic variant(s)). If the diagnosis is made at a later date via a follow-up report, the family is not eligible for the service.

Familial Variant Testing for prenatal samples under the Family Extension Service is not currently available. Blueprint Genetics will continue to accept and expedite prenatal samples for Familial Variant Testing at our standard fee when requested.

Fetal samples are accepted under the Family Extension Service if the fetus is the index patient. Please note that Blueprint Genetics does not currently offer maternal cell contamination (MCC) studies therefore ordering clinicians need to ensure that any prenatal sample sent to Blueprint Genetics has MCC studies done locally.

Post-mortem samples from a first degree relative are accepted under the Family Extension Service, however Blueprint Genetics is unable to accept DNA extracted from FFPE tissues. Please submit DNA extracted from fresh frozen tissue or refrigerated whole blood. Blueprint Genetics does not extract DNA from tissue other than blood, saliva and blood spot cards at this time.

Blueprint Genetics will test all family members with an indication for testing, however the Family Extension Service includes Familial Variant Testing for up to 5 first degree relatives. It is up to the health care provider to review the family history and prioritize those family members who should be tested under the Family Extension Service. Additional Familial Variant Testing where testing is indicated beyond the included 5 first degree relatives is available at our standard fee.

This service applies to likely pathogenic and pathogenic variants that establish a genetic diagnosis for the index patient. The service does not cover testing for VUSs that are identified together with likely pathogenic and pathogenic variants.

If a VUS is identified in your index patient, first degree family members are not eligible for Familial Variant Testing testing as part of the Family Extension Service.

However, no cost Familial Variant Testing may be available as part of our VUS Clarification Service.  Please see our website for details about this program and how to apply.  If accepted, Familial Variant Testing will be performed at no cost in relevant relatives. If your application is not accepted, Blueprint Genetics will perform Familial Variant Testing for our usual fee at your request.

Familial Variant Testing is still available to your patient’s relatives through our standard service with separately invoiced Familial Variant Testing.

No. Please do not send family member samples before the proband’s test result has confirmed Familial Variant Testing is indicated, and family members have received genetic counselling.

Blueprint Genetics accepts:

  • EDTA blood
  • saliva
  • extracted DNA

We have specimen kits, including all required materials and return postage, available at no cost to you.  Please visit our website for details on how to order or contact your local sales representative.

No. We offer this service as a time saving and cost-effective, economically attractive solution for the health care system. The cost of this service covers the Familial Variant Testing laboratory costs typically incurred in a one year period after a diagnosis of a rare disease in an index patient.

In addition, this service will significantly reduce the work load and costs associated with the traditional insurance billing / funding application process both on the clinical and payer side. It will effectively free up resources, decrease unnecessary visits to the clinic, and streamline testing for first degree family members. Overall, this service will reduce the costs of genetic testing for the health care system.

The Family Extension Service is only available for Blueprint Genetics Diagnostic Panels and Single Gene Tests. Variants identified by Whole Exome Sequencing are not eligible. Familial Variant Testing for variants identified by Whole Exome Sequencing can be obtained through our standard Familial Variant Testing service and fee.

Find more info in Support
Blueprint Genetics strives to provide the best price and quality in our genetic testing services. We have established a competitive level of pricing that is available through contracts with provincial/institutional authorities within Canada and USA. Please contact our Customer Support for pricing available:, 650 452 9340
Order in Nucleus