2015 was great for genetic diagnostics but 2016 will be even better

Published on December 18, 2015

As the holiday season is approaching, we want to thank all of our customers, partners and collaborators for the great year. During 2015 we expanded into new territories and had the privilege to learn from and work with physicians and researchers from all over the world. We are very pleased with the improvements we have made to our services, including decreasing our turnaround time average to well below 21 days.

We are even more excited about 2016. So far we have been mainly providing diagnostics for inherited cardiovascular disorders. However, beginning in March we will become a genetic diagnostics one-stop shop by introducing the most comprehensive NGS diagnostics platform in the world. We are launching more than 250 high-quality NGS panels covering practically all actionable inherited disorders from 18 medical specialties. We are also introducing copy number variation (CNV) detection along with mitochondrial sequencing to supplement our mutation testing panels.
In addition, we will start addressing patient cases with complex phenotypes by introducing Medical Exome Sequencing that will cover 1,200 clinically relevant and actionable genes with extremely high clinical-grade sequencing quality. Moreover, based on the feedback from many customers, we will start providing Whole Exome Sequencing for disease gene discovery and analysis of family trios.

The most important part of our service is the clinical statement that we send to our customers. Our mission is to provide best-in-class clinical reports to bring actionable genetic knowledge for physicians and patients worldwide, and this is what we will be striving for in 2016. We are very much looking forward to continuing to work with our exisiting customers and collaborating with new ones.

We wish you a happy holiday season and a great New Year!

Blueprint Genetics Team

Last modified: 12.18.2015


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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