Frontiers in molecular genetic diagnostics of pulmonary arterial hypertension (PAH)

Published on September 2, 2015

Genetic basis of pulmonary arterial hypertension (PAH) is well recognised but still rarely utilized in diagnostics setting. Diagnostic yield of comprehensive multi-gene panels in PAH is relatively unknown as current knowledge is gathered from studies evaluating only one gene at a time in a heterogenous patient populations.  Finnish PAH experts and Blueprint Genetics performed a collaborative research project where they  screened 21 PAH-patients (18 idiopathic and 3 familial) with the Blueprint Genetics PAH Panel. Pathogenic disease causing mutations were found in 29 % of the patients, of which one third were initially tested negative with Sanger sequencing. This study demonstrated that Blueprint Genetics unique targeted sequencing method, OS-Seq, is a practical and effective tool for genetic profiling with high-quality performance, allowing effective and simultaneous analysis of genetic causes underlying PAH. All in all, considering the accuracy, decreased costs and fast turn-around-times, NGS technologies are rapidly replacing laborious Sanger-sequencing in genetic diagnostics of PAH.

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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…

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