Family Extension Service

Promotion code: “FAM2017”

Advance your patient’s panel test order to cover familial mutation testing for up to 5 first degree family members with the Family Extension Service!

  • For samples ordered and received within 12 months from the original index patient report date
  • For variants classified as ‘likely pathogenic’ and ‘pathogenic’ variants
  • Price: $1500 CAD
  • Includes up to to 5 first degree family members
  • Family member tests can be ordered as usual. We will take care of bundling the family member testing
  • This is a special service we currently offer for our Canadian customers
  • Blueprint Genetics recommends genetic counselling for all individuals undergoing genetic testing
  • Use the following promotion code for index orders: FAM2017 (All panels ordered with this code are included in this service)
  • 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.

Clinical Genetic services are overwhelmed with referrals and are chronically short-staffed such that it may take several months to years for a patient to be seen following a referral.  To further lengthen the process, if a required genetic test is not available in a given jurisdiction, pre-approval must be secured prior to sending the sample for testing. This can also add months to the pursuit of a diagnosis.

If an index patient’s genetic testing is positive and a diagnosis has been confirmed, genetic testing is often available for family members should they desire.  However, Family Member Testing (FMT) may also be delayed by long wait lists and the requirement for pre-approval before any testing is performed.

How can Blueprint Genetics help?

Blueprint Genetics is very excited to introduce the Family Extension Service.  This packaged service allows for up to 5 first degree relatives of the index patient to have FMT without additional costs. The diagnostic window for these chosen family members is 12 months after the date of the primary index patient report. This service is only for pathogenic or likely pathogenic variants that confirm a diagnosis for the index patient.

Blueprint Genetics believes this new service model will improve access to family member genetic testing without adding additional burdens to the clinician or the patient.  Clinicians will not have to apply and wait months for pre-approval from their local approving body in order to perform FMT for those family members who are most at risk or subject them to unnecessary screening tests.

By accepting first degree relative samples for up to a year after the index patient’s result has 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 family members time to investigate the pros and cons of genetic testing.

The cost of the Family Extension Service is $1500 CAD. Please see below for additional information regarding eligibility.


Family Extension Service FAQ

Eligibility requires the following:

  • The Family Extension Service was the initial test ordered
  • Pathogenic or likely pathogenic variants were identified in the index patient which are consistent with the family history and explain the diagnosis
  • Blueprint Genetics will provide FMT for up to 5 first degree relatives (including half-siblings) of the index patient with no additional costs
  • FMT 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
  • First degree family members should receive genetic counselling regarding their risks and the implications of genetic testing before proceeding with testing


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

Family Extension Service is an upgraded service that 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 including the promotion code “FAM2017” in the dedicated area of the index patient order form. This will highlight the index patient in our system and eligible first degree relatives will be analyzed automatically as part of this service when their samples are received with a requisition requesting that Blueprint Genetics proceed with testing.
  • You do not need a special promotion code when placing the follow up FMT order(s).
  • If there is a first degree relative that will be tested at Blueprint Genetics by standard FMT and will not be included in this no cost service (such as cases with more than 5 first degree family members), please clearly indicate 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 is eligible only for cases where the primary analysis has revealed a diagnosis (likely pathogenic or pathogenic variant(s)). If the diagnosis is confirmed later and provided by a follow-up report this family is not eligible for the service.

No cost FMT is not currently available for prenatal samples.  Blueprint Genetics will continue to accept and expedite prenatal samples for FMT when requested.

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

Yes, however; Blueprint Genetics is unable to accept DNA extracted from FFPE tissues.  Please submit DNA extracted from fresh frozen tissue or whole blood.  We do 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, we are only able to offer no cost FMT to a maximum of 5 first degree relatives. It is up to the health care provider to review the family history and determine those family members who should be tested as a priority. If there are more than 5 first degree relatives in a family where testing is indicated, this testing can be done for our usual fee at your request.

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 the no cost FMT testing as part of the Family BExtensionService.

However, no cost FMT 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, FMT will be performed at no cost in relevant relatives. If your application is not accepted, Blueprint Genetics will perform FMT for our usual fee at your request.

Family Member Testing (FMT) is still available to your patient’s relatives through our standard service with separately invoiced Family Member Testing.

No, family member samples should be sent after the index patient report has been provided and the results indicate first degree family members are eligible for no-cost testing.

Blueprint Genetics accepts:

  • EDTA blood
  • saliva
  • extracted DNA
  • Blood filter cards (Ask Blueprint Geneticsfor more information)

For index patient testing and FMT, all listed sample types are accepted.

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 be in touch with your local sales representative.

No, we offer this service as a cost-effective and economically attractive solution for the Canadian health care system. The cost of this service covers the FMT laboratory costs typically incurred in a one year period after a diagnosis of a rare disease in an index patient.  In addition, we believe this service will significantly reduce the work load and costs associated with the traditional funding application process both on the clinical and payer side. It will free up resources, decrease unnecessary visits to the clinic, and streamline testing for first degree family members. Overall, this service will reduce the general costs of genetic testing for the Canadian health care system.

Variants identified by whole exome sequencing are not eligible for no cost FMT at this time.

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