News A new innovative CNV analysis for genetic diagnostics May 12, 16 Whole Genome Del/Dup (CNV) Introducing a new innovative first line genetic diagnostic product for patients with clinical suspicion of large chromosomal abnormalities and microdeletion/microduplication syndromes. Blueprint Genetics’ utilizes Whole Genome Sequencing combined with a dedicated analysis pipeline to evaluate deletions and duplications (copy number variations, CNVs) in the genome. Our technology has… Read more
News Blueprint Genetics introduces one of the most comprehensive NGS offerings on the market Mar 16, 16 We are now offering one of the most comprehensive clinical-grade NGS offerings on the market. Our new portfolio consists of over 400 panels covering more than 2,000 genes providing gapless sequencing and high quality medical statements. The testing options include targeted NGS panels by Sequence Analysis,… Read more
News High diagnostic accuracy provided by Blueprint Genetics’ technologies is essential for clinical diagnostics Mar 08, 16 Sequencing is still one of the major steps where genetic diagnostics can go wrong. Despite all the breakthroughs during the past decade, the sequencing technologies available are still providing results that are far from perfect. The limitations of sequencing technologies are still one hurdle in applying genomics to everyday medicine. Read more
News A clear path to early treatment – through cost-effective, actionable genetic diagnostics Mar 05, 16 In recent decades, genetic testing has helped bring a diagnosis to millions of people with inherited diseases and their affected family members. With a conclusive genetic diagnosis, clinicians can start the right course of treatment for their patients, or recommend the necessary lifestyle changes to ensure their patients live… Read more
News How we classify genetic variants when interpreting patients results Mar 05, 16 In genetic diagnostics, variant classification forms the basis for clinical judgment. Despite the international guidelines and principles, there is still significant inter-laboratory variation in classification of genetic variants. A wrong classification can misguide the clinical judgment in patient care including severe consequences in risk stratification among family members. Blueprint Genetics is dedicated to… Read more
News From sample to diagnosis – genetic testing with Blueprint Genetics Mar 05, 16 Monogenic diseases are caused by a single defective gene that occurs in all cells throughout the body. Geneticists have identified approximately 7,500 inherited diseases in humans that affect millions of people worldwide. Although the global prevalence is relatively rare, affecting roughly 5 in 100 people from birth, these diseases place… Read more
News Introducing 210 new genetic tests, covering over 2,000 genes. Mar 02, 16 Providing actionable genetic knowledge for all medical specialties Join us at ACMG, where we are excited to introduce 210 new tests bringing our world-class testing and interpretation to all medical specialties. Learn about our revolutionary clinical interpretation process, powered by IBM Watson, which makes it possible… Read more
News Blueprint Genetics is one of the most promising growth companies in Finland Feb 05, 16 Blueprint Genetics has been chosen as one of the top 20 most promising growth companies in 2016 by Talouselämä. Talouselämä, a Finnish weekly financial and business magazine, has chosen the most promising start-up companies in Finland for the fifth year in a row. The jury judged the growth and internationalization possibilities… Read more
News Blueprint Genetics becomes the first laboratory to receive ISO 15189 accreditation for a NGS pipeline from sample arrival to clinical interpretation Feb 02, 16 Blueprint Genetics is now an ISO 15189 standard accredited No. T292 laboratory. Accreditation is a procedure to recognize an organization’s competence to carry out specific tasks based on internationally agreed criteria. The quality management system at Blueprint Genetics complies with the international ISO 15189 standard, which specifies the quality requirements for medical… Read more
News Relevance of Truncating Titin Mutations in Dilated Cardiomyopathy Jan 28, 16 As a continuation to Blueprint Genetics recent collaborative studies on genetics of dilated cardiomyopathy (DCM) (Eur Heart J 2015 and PlosOne 2015), we performed meta-analysis of truncating titin variants in DCM. Others and we have previously estimated TTN truncating variants (TTNtv) – nonsense, frameshift and consensus splice site, to be responsible for… Read more
News Prevalence of Titin Truncating Variants in General Population Jan 11, 16 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
News 2015 was great for genetic diagnostics but 2016 will be even better Dec 18, 15 As the holiday season is approaching, we want to thank all of our customers, partners and collaborators for the great year. During 2015 we expanded into new territories and had the privilege to learn from and work with physicians and researchers from all over the world. We are very pleased… Read more
News “Diagnostics startup Blueprint Genetics puts expansion to the test” / Tekes Nov 15, 15 “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 more
News Blueprint Genetics receives California CLIA State License and launches diagnostics sales in California. Nov 03, 15 We are thrilled to start providing customers in California with our world-class genetic testing and diagnostics! Blueprint Genetics is a CLIA certified laboratory for high complexity testing (#99D2092375) approved by US authorities (Centers of Medicare & Medicaid Services – Clinical Laboratory Improvement Amendment Survey and… Read more
News Looking ahead—expanding to cover all inherited disorders Oct 08, 15 During the last couple of years, we’ve focused our efforts on developing our cardiovascular diagnostics. This emphasis has helped establish our place as one of the leading global providers of cardiovascular genetic diagnostics. As of March 2016, we are taking the company to a next level by radically expanding our… Read more
News Frontiers in molecular genetic diagnostics of pulmonary arterial hypertension (PAH) Sep 02, 15 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
News Investigating the genetic landscape of DCM in the Finnish population Aug 27, 15 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
News Come meet us this spring at HRS, AEPC and ESHG Apr 13, 15 We are continuously participating in events around the world. Come meet us at the following conferences during spring and summer 2015. More details about our participation, booth number etc. are also found on our Facebook page. HRS – Heart Rhythm 2015 36th Annual Scientific… Read more
News Exceptional findings with OS-Seq in an arrhythmia patient Apr 09, 15 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
News Meet Sampo, our new NextSeq 500 Desktop Sequencer Mar 27, 15 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