Prevalence of Titin Truncating Variants in General Population

Jan 11, 2016

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

Investigating the genetic landscape of DCM in the Finnish population

Aug 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

Apr 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

Mar 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

Blueprint Genetics is launching new products neurological diseases

Nov 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

Aug 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

Aug 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

Mar 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

Feb 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

Dec 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

Suomalainen yhtiö tarjoaa kansainvälisille markkinoille huipputason geeniteknologiaa

Jun 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

Media kit

Subscribe to our press releases

Subscribe