Results and Analysis
Why are the results of testing sent directly to the referring physician rather than the patient or parent of a patient?
Genetic testing offered by Blueprint Genetics must be ordered by a healthcare professional, and we only share the results with the individual ordering the test. 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.
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 you up-to-date on the status of your order by email. You can also log in to 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 haven’t created a Nucleus account for yourself, you can create an account here or our support team can do this for you. If you can’t recall your password, you can use the “Forgot password?” link to create a new one.
If you wish to have results mailed to you, these will be sent via mail the same or next business day following the notification email. 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 firstname.lastname@example.org.
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 (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 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.