FAQs

In our quality control (QC) process, a relatedness algorithm is run as part of our pipeline for all WES family and familial variant tests when Blueprint Genetics previously tested a family member AND this family member was linked to the current order. This is performed to ensure the sequenced samples belong to individuals who are blood relatives. This process estimates the degree of relatedness-first degree, second 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, eg, if an unusual number of variants are identified as de novo.  

Discordant relatedness occurs when the estimated degree of relatedness between 2 individuals is inconsistent with the reported relationship and an internal sample mix-up has been ruled out 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 misattributed parentage.  

For WES cases, if discordant relatedness is identified in a sample being tested through our Express service, the ordering provider will be informed of the discordance; however, reporting will proceed with the implicated individual removed from analysis. If this individual opted in to secondary findings, these will not be automatically reported but could be issued upon request. Information about discordant relatedness is not included on the patient report.  

For FVT cases, if discordant relatedness is identified in a sample being tested through our Express service and the ability to interpret and classify the requested variant(s) is impacted by the identification of discordant relatedness, the ordering provider will be informed of the discordance; however, reporting will proceed with the genotype as identified in the sample. Information about discordant relatedness will not be included on the patient report. In addition, this individual’s data will be excluded from any segregation analysis within the family.  

Yes, we do offer expedited sample processing with a fee. Please see our Express service webpage for details, here.

For enquiries about turnaround related to sponsored testing, clinical trials, and RFPs, please contact your local Blueprint Genetics representative, here.

The turnaround times for testing and for Express Service are in the table below.

*From the time of sample receipt and confirmation of payment/funding

Please see our Express service webpage for more details, here.

The typical TAT for panel testing and for Familial Variant Testing (FVT) (where the variant has been previously identified at our laboratory) is approximately 4 weeks, from the receipt of sample and confirmation of payment/funding.

To meet the needs of patients with urgent medical management timelines, we offer an Express Service with a 2-week turnaround time. There is an additional pricing for Express Service and it can be ordered by adding “EXPRESS14” to the promotion code field on the order requisition.