Full transparency sets a new standard for quality

Published on July 21, 2017

Blueprint Genetics is committed to provide the highest quality genetic testing for our customers.

Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we have performed a comprehensive and fully traceable analytic validation that demonstrates the high diagnostic performance of all our tests. We have prepared a detailed documentation of the analytic validation experiments and results, and provide all relevant data on our website for each test type. Furthermore, quality data in each clinical statement enables the clinician to directly evaluate the test’s performance for that specific patient, and have confidence that all actionable information has been provided when deciding the clinical follow-up.

Being fully transparent, Blueprint Genetics is setting a high standard for genetic testing! We now invite you to join the effort of improving diagnostics of inherited disorders for the benefit of the patients.

Samuel Myllykangas
Chief Technology Officer, Ph.D.


Read more about our transparency and access resources approaching the subject from different angles from here.

Last modified: 11.01.2017


Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Published on April 30, 2018

Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…

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