As a continuation to Blueprint Genetics recent collaborative study on genetics of dilated cardiomyopathy (Eur Heart J 2015), we were enthusiastic to further evaluate variation of titin gene in large reference populations. This is an important step towards a better understanding of the titin truncations in cardiomyopathies. Earlier studies have…
Read more“After establishing an office in the USA, business is set to grow tenfold for this genetic testing company in the near future. The road to success for startups is one that is typically paved with various twists and turns. Whilst a company may start out with an original idea, in…
Read moreGenetic 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 moreTo 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 moreSequencing 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 moreWe 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 moreThe 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 moreBlueprint 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 moreHelsinki, 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 moreBlueprint 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 moreBlueprint 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 moreIn 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 moreWe 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 morePress 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 moreLehdistötiedote 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