Extend your patient’s diagnostic evaluation to cover Familial Variant Testing for up to 5 first degree family members!
- Family Member Testing as part of the Family Extension Service is available when likely pathogenic and/or pathogenic variants establish a diagnosis in the index patient
- Available for up to 5 first degree family members whose testing is ordered, and whose samples are received, within 12 months from the original index patient’s report date
- To order this service (must be done at the time the index patient’s order is placed) 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.
- If diagnostic variants are identified in the index patient, Familial Variant Testing is ordered through the normal procedure using our standard requisition with no additional promotion code or payment required
- Blueprint Genetics recommends genetic counselling for all individuals undergoing genetic testing
- This service is currently available in Canada, United States, Australia and New Zealand, as well as South East Asian hospitals contracted with Blueprint Genetics
- For more information, see below!
Contact our Customer support for any questions or ask us to contact you:
Blueprint Genetics understands the unique pressures of practicing genomic medicine.
With the rapid increase in genetic knowledge comes an increased demand for new and varied patient populations to be seen for genetic assessment, counseling and testing.
If an index patient’s genetic testing is positive and a diagnosis has been confirmed, genetic testing may be offered to family members. However, family member testing may 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’ Family Extension Service is a packaged service that allows for up to 5 first degree relatives of the index patient to have variant specific testing for the diagnostic variants identified in their family member without added costs or delays.
- Samples from the selected first-degree relatives having Familial Variant Testing must be received within 12 months after the date the index patient’s report is issued.
- Family Extension Service is only for diagnostic pathogenic or likely pathogenic variants that were previously identified in the index patient.
Blueprint Genetics believes this service model improves 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, wait for insurance pre-authorization or face situations where payers decline to cover the cost.
Blueprint Genetics aims to simplify the genetic testing process for first degree family members by accepting their samples for up to one year after the index patient’s result was reported. This provides additional time for the family members to be referred and evaluated by their local health care provider prior to choosing whether to pursue 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 at the time the initial panel is ordered for the index patient
- Pathogenic or likely pathogenic variants are identified in the index patient which are consistent with the family history and explain the diagnosis
- Orders AND samples are received within 12 months of the date of the index patient’s report was initially issued.
- Testing can be ordered for up to 5 first degree relatives (including half-siblings) of the index patient
- A first degree relative is defined as a parent, child, or sibling of the patient being tested (index)
- Testing must be ordered by a qualified health care provider.
- This service is currently available in Canada, United States, Australia and New Zealand, as well as South East Asian hospitals contracted with Blueprint Genetics. Please note that this is not available for insurance bill cases in the USA.
|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|
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 for the index patient. This will highlight the index patient in our system.
- Familial Variant Testing under the Family extension service is ordered in the same way as any other family member test (selecting family member test on the requisition or through Nucleus)
- 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
The Family Extension Service does not include Familial Variant Testing for samples from ongoing pregnancies. Blueprint Genetics will continue to accept and expedite prenatal samples for family member testing at our standard fee when requested.
However, fetal samples can be accepted as part of the Family Extension Service when the fetus is the index patient (i.e. the panel is performed on the fetal sample and family member testing is performed on relatives of the fetus). 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.
Samples from a deceased first-degree relative are accepted under the Family Extension Service; however, Blueprint Genetics is unable to accept DNA extracted from formalin fixed or paraffin embedded (FFPE) tissues. Please submit refrigerated whole blood collected in an EDTA tube of DNA extracted from fresh frozen tissue. Read more about our sample requirements here.
The Family Extension Service includes Familial Variant Testing for up to 5 first-degree relatives. It is the responsibility of 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 for other family members where testing is indicated (beyond the included 5 first degree relatives) is available at our standard fee. For current pricing, please contact your local Genetic Services Consultant
The Family Extension Service only applies to likely pathogenic and pathogenic variants that establish a genetic diagnosis for the index patient. The Family Extension Service does not cover testing for VUSs that are identified together with likely pathogenic or pathogenic variants. These variants may qualify for our VUS Clarification Service if indicated as such on the report. See details: VUS Clarification Service.
If the requirements for the VUS Clarification Service are met, targeted variant testing will be performed at no cost for relevant relatives. If not, Blueprint Genetics will perform targeted variant testing for our usual fee at your request. Read more on our website: Variant Specific Testing.
Familial Variant Testing is still available to your patient’s relatives through our standard service with separately invoiced Familial Variant Testing.
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
- extracted DNA
Please see Sample requirements page for more details. In addition, we have specimen kits for blood or saliva sample collection, including all required materials and return postage, available at no cost to you or the patient. Please visit How to order on our website or contact your local Genetic Services Consultant.
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. For current pricing, please contact your local Genetic Services Consultant.
firstname.lastname@example.org, 650 452 9340