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.

Read article online, click.

Last modified: 09.02.2015


New in ophthalmology panels

Published on March 16, 2018

We are proud to introduce our new improved panels. Since March 1st, a total of 157 panels have been updated and 21 new panels launched. Among the updated panels are ophthalmology genetic diagnostic panels, where we have significant improvement of quality and performance of genetic diagnostic testing for patients with…

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