FAQs
Further Testing
What is the procedure for adding on further testing to a sample already at Blueprint Genetics?
An additional test can be ordered for a sample already at Blueprint Genetics by placing a new order in our system. In this case, please write the Order ID number of the previous test on the new referral. Please note that all blood and saliva samples are stored for 3 months. DNA samples are stored for 1 year or longer as consented to by the patient.
I would like to order another test on a patient who was tested previously. Do I need to submit another sample?
No, if the sample is still stored at Blueprint Genetics. However, we will need a written consent from the ordering clinician to be able to perform analysis on an earlier sample; this can be provided in the test requisition form or via email to our Support team.
Generally, we obtain enough DNA from one sample to allow completion of another test. A second sample is not usually necessary and in case of any exceptions the referring physician will be promptly informed.
What if discordant relatedness is detected in samples sent for WES family or FVT analysis?
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.