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


A Finnish study finds evidence indicating the JPH2 gene to be causative in hypertrophic cardiomyopathy

Published on September 21, 2018

This study1 provides the first substantial evidence of the JPH2 gene associating with monogenic familial hypertrophic cardiomyopathy (HCM). The study ‘Heterozygous Junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure’ was published recently in PLOS ONE. Hypertrophic cardiomyopathy is considered the most common form of inherited cardiomyopathies,…

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