Blueprint Genetics’ NGS panels achieve leading analytic validity

Published on August 29, 2014

Blueprint Genetics (BpG) is proud to publish extensive validations for NGS panels in detection of single nucleotide polymorphisms (SNPs) and small insertions & deletions (indels). It is widely recognized that sequencing quality has significant impact on diagnostic yield when utilizing NGS technologies. BpG´s mission is to provide the highest possible quality with clinical diagnostic grade NGS analysis.

We are constantly improving the quality of our diagnostic process. Our OS-Seq technology provides several advantages when pursuing the perfect read out of clinically relevant regions in human genome. The current quality and performance of our OS-Seq sequencing panels represents leading analytic performance in the market today. BpG’s panels have high median coverage of 613 (range 295-1065) on a nucleotide level. On average our SNP validation showed excellent performance (sensitivity 0.994, specificity 1.000 and accuracy 1.000). Our indel validation had a good sensitivity of 0.982 for 1-5 bp indels and 1.000 for 5-19 bp. The detailed analysis of our latest validation process can be accessed here.

Full transparency in analysis quality and performance is becoming a standard of genetic diagnostics. In addition to the publically available validation analysis, we provide our customers an access to the details of quality and performance of their referred patients. For more info contact our support and check our example statements here: example statement.

Blueprint Genetics Team

Last modified: 08.29.2014


Blueprint Genetics expands capabilities in the detection and confirmation of difficult-to-sequence regions

Published on October 17, 2018

The latest advancement in Blueprint Genetics’ production environment involves customized sequencing solutions for difficult-to-sequence genes, designed to maximize detection of clinically relevant variants. Currently, the most extensive developments are in genes SMN1/SMN2, PKD1 and RPGR (ORF15), associated with spinal muscular atrophy, autosomal dominant polycystic kidney disease and X-linked retinitis pigmentosa,…

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