Blueprint Genetics

Blueprint Genetics – Ready for 2015!

Dec 18, 2014

Blueprint Genetics thanks all hospitals and clinics, which have collaborated with us and utilized our diagnostic services during year 2014 and wishes all of you a Happy New Year 2015!

During 2014 our customer base has exceeded over 90 clinics and hospitals in 31 countries. From these hospitals we have received over 1000 patient samples during 2014. Our total patient database in hereditary diseases is now over 1800 cases. We consider this number a success as it has been accumulated during past 16 months we have been offering diagnostics. In rare hereditary diseases large patient volumes play an important role in the interpretation of genetic analysis. Considering the increasing patient volumes and feedback we are receiving, it seems we are on the right track in developing next generation genetic diagnostics and services.

Our ongoing mission is to take the standards of genetic testing to a new level by developing novel tools and technologies, which enable higher quality, faster TAT and decreased costs. In 2015 our goals are to launch the PCR-free oligonucleotide selective sequencing in to the routine diagnostic pipeline. Amplification free system allows improved quality to the analysis. Our mission is also to incorporate copy number variation (CNV) analysis as a routine part of sequence analysis. In addition we are working on a significant update on our current diagnostic panels to ensure our diagnostics is fully updated based on current literature. All of these improvements help us providing even better service in the future. One of the missions during 2014 has been to further develop our variant classification policies. The analysis of over 1800 cases has been a major asset in developing an updated variant classification scheme. Another important factor in this development has been interactions and discussions with our customers.

Blueprint Genetics is opening a facility in California USA in January 2015. This office will be serving the customer base in Canada and USA. With this expansion we hope to provide better service for our current and future customers in North America. Details of this launch will be provided in January 2015.

We are grateful for all feedback and suggestions received from our customers. This is crucial when developing our products, services and the clinical statement.

Best regards,

Blueprint Genetics Team

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