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…

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…

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…

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…

https://vimeo.com/123217791…

Finnish business magazine Talouselämä has released its take on the 20 most promising start-ups in Finland. Blueprint Genetics is one of the companies! Read more… (Order Talouselämä or try ’Summa’ one month for free to read the full story.)…

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…

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…

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…

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…

Blueprint Genetics (BpG) is proud to publish extensive validations for NGS panels in detection of single nucleotide polymorphisms (SNPs) and small insertions & deletions (indels). It is widely recognized that sequencing quality has significant impact on diagnostic yield when utilizing NGS technologies. BpG´s mission is to provide the highest possible…

BpG Periodic Fever Syndrome Panel – New Panel Including 9 Genes Blueprint Genetics continues launching comprehensive next-generation sequencing (NGS) tests by releasing a best in class diagnostic panel for periodic fever syndromes (PFS). BpG Periodic Fever Syndrome Panel is the first effective genetic diagnostics tool for familial Mediterranean fever…

Note 06/2018: The content of our cardiology panels has since been updated. To find the latest information what genes we have in our cardiology panels, please see cardiology panels here. If you cannot find the gene you are looking for, please contact our support@blueprintgenetics.com for further information.   Blueprint…

Following the successful launch of our index diagnostic panels the number of family members tested at our laboratory has increased significantly during past months. The risk stratification of family members is one of the major reasons for genetic testing and we want to lower the barrier of testing further and…

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…

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…

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…

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…

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…

Blueprint Genetics is a new genetic diagnostics company that is based in Helsinki, Finland. The company started its operations in 2012 by setting up a laboratory for applying a targeted sequencing method called Oligonucleotide-Selective Sequencing (OS-Seq™)* for rare diseases diagnostics. We are now launching first ten products, all of which…