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.
Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year
Oct 18, 19