Frontiers in molecular genetic diagnostics of pulmonary arterial hypertension (PAH) September 02, 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… Read more
Investigating the genetic landscape of DCM in the Finnish population August 27, 2015 To explore the underlying genetic defects of dilated cardiomyopathy (DCM) we applied OS-Seq technology as a novel comprehensive diagnostic tool. Despite our increasing understanding of the genetics of DCM the genetic basis of the disease is still poorly understood. We were able to identify pathogenic variants in 47.6% of the… Read more
Exceptional findings with OS-Seq in an arrhythmia patient April 09, 2015 Sequencing of channelopathy genes with the BpG Arrhythmia Panel revealed a de novo mutation in the CACNA1C gene in an adolescent with ventricular fibrillation but normal development, consequently not only expanding the phenotype of Timothy Syndrome Type 2 but also demonstrating the power of large gene panels. The standard has been to select specific gene tests for patients with established… Read more
Meet Sampo, our new NextSeq 500 Desktop Sequencer March 27, 2015 We have a tradition of naming our sequencing machines after famous robots. Our latest system is called Sampo. In the Finnish national epoch compiled by Elias Lönnrot, Kalevala, Sampo is described as a refiner engine that brought prosperity to its owner. Pretty witty, huh? Currently, we are using Illumina’s MiSeqs… Read more
Big news for Blueprint Genetics at the 2015 Annual Clinical Genetics Meeting March 24, 2015 The 2015 Annual Clinical Genetics Meeting (ACMG) marks an important milestone for us at Blueprint Genetics, one of the leading laboratories in cardiovascular genetics. At this meeting we’re excited to announce our new and improved service model, plus our upcoming sales launch in the US. We’re opening new facilities… Read more
Blueprint Genetics is launching new products neurological diseases November 03, 2014 Blueprint Genetics launches new genetic diagnostic tests for Becker and Duchenne muscular dystrophies and an updated panel for Emery-Dreifuss muscular dystrophy with the addition of titin (TTN) gene. In line with our other diagnostic panels, we target the sequencing to all protein coding exons, exon-intron boundaries and other regions with… Read more
Blueprint Genetics Announces $3.9 Million in Funding, Leading to US Expansion August 29, 2014 Helsinki, Finland – August 29, 2014 – Blueprint Genetics is glad to announce that Inventure and Avohoidon Tutkimussäätiö, a Finnish foundation, have joined the existing investors of the company. Previously, the company has been financed by Finnish business angels and Tekes, the Finnish Funding Agency for Innovation. The funding for Blueprint Genetics now totals… Read more
Blueprint Genetics Announces $3.9 Million in Funding, Leading to US Expansion August 29, 2014 Blueprint Genetics is glad to announce that Inventure and Avohoidon Tutkimussäätiö, a Finnish foundation, have joined the existing investors of the company. Previously, the company has been financed by Finnish business angels and Tekes, the Finnish Funding Agency for Innovation. The funding for Blueprint Genetics now totals $3.9 million, allowing the company to accelerate… Read more
Blueprint Genetics launches new tests for neurological diseases March 10, 2014 Blueprint Genetics launches new genetic diagnostic tests for Becker and Duchenne muscular dystrophies and an updated panel for Emery-Dreifuss muscular dystrophy with the addition of titin (TTN) gene. In line with our other diagnostic panels, we target the sequencing to all protein coding exons, exon-intron boundaries and other regions with… Read more
Blueprint Genetics is launching new products for hyperlipidemia and nephrotic syndrome February 14, 2014 In 2013 Blueprint Genetics launched 14 comprehensive diagnostic NGS panels for hereditary cardiovascular diseases and certain neurological disorders. As previously, our service with inclusive clinical statements and interpretations has been continuing to receive excellent feedback from our customers. The number of ordering hospitals has been increasing and to date physicians… Read more
Blueprint Genetics accepted into the Tekes NIY program December 12, 2013 We are happy to announce that Blueprint Genetics has been accepted into the NIY program of Tekes (The Finnish National Technology Agency). The program has two phases that enables us to withdraw up to one million euros in subvention when challenging objectives are met. The idea of… Read more
A Finnish company enters international markets with world class genetics technology June 12, 2013 Press release 12 June 2013 Blueprint Genetics has launched a new genetic testing technology for professional use in hospitals. The gene sequencing technology is based on Stanford University research and can effectively analyse rare hereditary human diseases. The company started its operations in 2012 in Helsinki. The tests of Blueprint… Read more
Suomalainen yhtiö tarjoaa kansainvälisille markkinoille huipputason geeniteknologiaa June 12, 2013 Lehdistötiedote 12.6.2013 Blueprint Genetics Oy on aloittanut uuteen teknologiaan perustuvien geenitestien tarjoamisen ammattikäyttöön sairaaloille. Yhtiön teknologian perustana on alun perin Stanfordin yliopistossa kehitetty ns. sekvensointimenetelmä, jonka avulla voidaan tehokkaasti tunnistaa tauteihin liittyviä ihmisen perimän muutoksia. Yhtiö aloitti toimintansa vuonna 2012 Helsingin Meilahdessa. Blueprint Geneticsin testit mahdollistavat vaikeisiin perinnöllisiin tauteihin liittyvien… Read more