FAQs

Genetic testing offered by Blueprint Genetics must be ordered by a healthcare professional, and we share the results with the HCP ordering the test. The test results can be shared with patients (or parents). Genetic test results can establish the correct diagnosis in a patient, determine the most appropriate treatment strategies, and provide a risk assessment for the patient/family. This type of information is best communicated in the context of a patient’s medical/family history by a healthcare professional involved in the patient’s care.

For US patients, the test results are shared with the healthcare provider and patient (or parent), subject to state laws regarding the release of test results.

Results can always be viewed online or downloaded as a PDF through our online portal, Nucleus. By request, the results can also be sent by fax or regular mail.

Throughout the ordering process, we keep the ordering healthcare professional up-to-date on the status of your order by email. You can also log in to our online portal, Nucleus, to track the progress of your order through the various steps of the analysis. When the analysis is complete, you will receive an email notifying you that results are now ready to be reviewed in Nucleus.

If you have requested a faxed copy of your results, these will be sent shortly after the notification email is sent. Downloading the report directly from Nucleus is the quickest, and most reliable, way to review and receive test results.

The majority of our tests are completed within 28 days from the time the sample is received in the laboratory with all required information. The turnaround time for Whole Exome Sequencing is approximately 8-10 weeks. Ordering online and providing complete clinical information facilitates the processing and interpretation of results.

Currently, Blueprint Genetics does not offer expedited analysis of samples. We do aim to prioritize the analysis of samples where the results will directly impact medical management (eg, treatment, interventions, or a pregnancy). If this is the case for your patient, please contact our Client Services team at support@blueprintgenetics.com.

Discordant relatedness occurs when the estimated degree of relatedness between two individuals is inconsistent with the reported relationship, and we have ruled out an internal sample mix-up to the best of our ability. Discordant relatedness could be identified for several reasons including but not limited to sample mix-up, undisclosed bone marrow or stem cell transplant, and non-paternity.

As part of our Quality Control (QC) process, a relatedness algorithm is run as part of our pipeline for all WES family and family variant tests (FVT) to ensure the sequenced samples belong to individuals who are blood relatives. This process estimates the degree of relatedness (1^st degree, 2^nd degree, etc) and is not a formal assessment of maternity/paternity. For WES family cases, the relatedness data is reviewed during interpretation when there is a suggestion of a discordant relationship (for example, if an unusual number of variants are called as de novo).

If discordant relatedness is identified, the ordering provider will be contacted to discuss the next steps including the option of submitting a new sample for the individual implicated. A plan on how to proceed if repeat testing continues to identify discordant relatedness will be discussed, either at the time of the initial conversation or during a follow-up conversation.

Discordant relatedness occurs when the estimated degree of relatedness between 2 individuals is inconsistent with the reported relationship, and we have ruled out an internal sample mix-up to the best of our ability. Discordant relatedness could be identified for several reasons including, but not limited to, sample mix-up, undisclosed bone marrow or stem cell transplant, and non-paternity.

As part of our Quality Control (QC) process, a relatedness algorithm is run as part of our pipeline for all Whole Exome Sequencing (WES) family and family variant tests (FVT) to ensure the sequenced samples belong to individuals who are blood relatives. This process estimates the degree of relatedness 1st degree, 2nd degree, etc, and is not a formal assessment of maternity/paternity. For WES family cases, the relatedness data is reviewed during interpretation when there is a suggestion of a discordant relationship (for example, if an unusual number of variants are called as de novo).

If discordant relatedness is identified, the ordering provider will be contacted to discuss the next steps including the option of submitting a new sample for the individual involved. A plan on how to proceed if repeat testing continues to identify discordant relatedness will be discussed, either at the time of the initial conversation or during a follow-up conversation.