News Our commitment to providing you with high-quality service during COVID-19 Mar 17, 20 Blueprint Genetics is closely monitoring the ongoing spread of the Coronavirus Disease 2019 (COVID-19) and its impact on the current health environment. We are taking all measures to prepare for exceptional circumstances during this time to ensure we continue to meet the needs of healthcare professionals and the patients they… Read more
News Setting a new standard for high-quality panel-based testing with mitochondrial DNA analysis Feb 24, 20 Blueprint Genetics, a Quest Diagnostics company, is introducing full mitochondrial genome analysis to its diagnostic panels in order to bring maximized diagnostic potential across medical specialties, especially in cardiology, metabolic diseases, neurology, ophthalmology and hearing loss. Blueprint Genetics’ mitochondrial genome DNA (mtDNA) analysis is a highly sensitive and validated assay… Read more
News ProQR Therapeutics Teams Up with the Foundation Fighting Blindness and Blueprint Genetics to Support the My Retina Tracker® Program for People Living with Inherited Retinal Diseases Feb 06, 20 My Retina Tracker Program is the highest volume IRD genetic testing program in the U.S. ProQR Therapeutics N.V. (Nasdaq:PRQR), a company dedicated to changing lives through the creation of transformative RNA medicines for severe genetic rare diseases, announced today its participation in the Foundation Fighting Blindness My Retina Tracker Program,… Read more
News Quest Diagnostics Acquires Blueprint Genetics to Broaden Access to Actionable Insights for Genetic and Rare Diseases Jan 22, 20 Together, Quest Diagnostics, the world’s leading provider of diagnostic information services, and Blueprint Genetics will broaden access to actionable insights in genetic and rare diseases, improving patient care and pharmaceutical drug research and development. Financial terms of the transaction were not disclosed. Blueprint Genetics is expected to continue to… Read more
News Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year Oct 18, 19 Blueprint Genetics is adding over 400 genes to 138 panels and introducing an improved clinical-grade Next Generation Sequencing assay for panels, single genes and variant specific testing. This update includes a number of recently discovered, clinically relevant deep intronic and regulatory variants and will facilitate the introduction of mitochondrial… Read more
News Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States Oct 02, 19 Beginning in October 2019, this new program offers patients with inherited retinal disease (IRD) access to no-cost genetic testing and genetic counseling in the United States. The program will streamline clinical workflow by providing the highest possible diagnostic yield, enabling faster and more straightforward follow-ups to patients. The new program… Read more
News Blueprint Genetics and ARCHIMEDlife form a partnership to launch high quality biochemical testing for Rare Diseases in North America Sep 24, 19 Combining high-quality biochemical testing with innovative genetic testing forms a powerful tool for personalized medicine, clinical research and diagnostics in rare diseases. ARCHIMEDlife Medical Laboratory, based in Vienna, provides biochemical and genetic testing for rare diseases, ranging from inborn errors of metabolism to endocrinology and beyond. Blueprint Genetics, based… Read more
News Move announcement: New facility in Seattle – what you need to know Jul 09, 19 Blueprint Genetics is excited to announce that beginning July 22nd, we will be moving our sample accessioning, client services and billing services teams to our new expanded facility in Seattle, WA. These new, larger premises will allow us to support our increasing test volumes and provide exceptional customer service to… Read more
News New address announcement: Blueprint Genetics establishes a new laboratory in Finland Jul 08, 19 Blueprint Genetics is establishing a new, state-of-the-art genetic diagnostic laboratory in Espoo, Finland, and will relocate all operations in Finland to the new location. Our facilities will be operational on August 8, 2019. Read more
News Blueprint Genetics expands in North America by building a new CLIA/CAP NGS facility in Seattle May 23, 19 The need for more space and expansion of the North American team will support the strong growth in sample volumes, new customers and partnerships. “The expansion to Seattle marks an important milestone for Blueprint Genetics. In the past two years, we have grown significantly and now need more infrastructure and… Read more
News A study of 183 index patients demonstrates enhanced diagnostic performance of NGS-based panel testing including the PKD1 gene Apr 04, 19 The diagnostic yield of genetic testing in a phenotypically heterogeneous cohort of 183 patients with cystic kidney disease was 54%. Almost 2 out of 3 disease-causing variants were identified in PKD1, a particularly difficult-to-sequence gene. Read more
News Latest Panel Update: Introducing six improved cardiology panels Mar 29, 19 A total of 44 genes have been added to six cardiology panels. This update has taken into account the latest findings in the field and further enhances the clinical utility of these panels. From discovery to action The latest scientific evidence and literature was reviewed resulting in clinically relevant,… Read more
News Blueprint Genetics to provide diagnostic testing for National Eye Institute’s eyeGENE initiative Mar 19, 19 Beginning in March 2019, Blueprint Genetics will provide diagnostic testing as part of the National Eye Institute’s (NEI) eyeGENE initiative. EyeGENE’s core mission is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatment. Read more
News The genetic causes of Dilated Cardiomyopathy: TTN missense and NFS-INDEL variants should be classified as likely benign, study finds Mar 12, 19 The lack of enrichment of non-frameshifting insertions/deletions (NFS-INDELs) in a large primary cohort of DCM patients suggests that these variants are likely non-contributory to Dilated cardiomyopathy (DCM), says a recent study published in Sci Rep. Read more
News Blueprint Genetics strengthens its pharmaceutical expertise with new Chairman Hilde Furberg and by appointing Guido Oelkers as a Senior Advisor Dec 05, 18 Blueprint Genetics has gained worldwide momentum and continued global growth in the field of clinical genetic testing of rare inherited diseases. As one of the fastest growing clinical genetic testing businesses globally, Blueprint Genetics has a customer base spanning more than 40 countries. Today, Blueprint Genetics is proud to announce… Read more
News Blueprint Genetics expands capabilities in the detection and confirmation of difficult-to-sequence regions Oct 17, 18 The latest advancement in Blueprint Genetics’ production environment involves customized sequencing solutions for difficult-to-sequence genes, designed to maximize detection of clinically relevant variants. Currently, the most extensive developments are in genes SMN1/SMN2, PKD1 and RPGR (ORF15), associated with spinal muscular atrophy, autosomal dominant polycystic kidney disease and X-linked retinitis pigmentosa,… Read more
News A Finnish study finds evidence indicating the JPH2 gene to be causative in hypertrophic cardiomyopathy Sep 21, 18 This study1 provides the first substantial evidence of the JPH2 gene associating with monogenic familial hypertrophic cardiomyopathy (HCM). The study ‘Heterozygous Junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure’ was published recently in PLOS ONE. Hypertrophic cardiomyopathy is considered the most common form of inherited cardiomyopathies,… Read more
News New in Immunology: Primary Immunodeficiency / Primary Ciliary Dyskinesia Panel Jun 12, 18 The aim of the new panel is to increase the clinical utility and diagnostic yield for patients with a clinical suspicion of primary immunodeficiency (PID), especially for those patients where primary ciliary dyskinesia (PCD) is included in the differential diagnosis. In these cases, the core symptoms are often very similar… Read more
News Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP Apr 30, 18 Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased… Read more
News From phenotype to diagnosis: Blueprint Genetics launches an open digital platform to connect clinicians based on matching rare variants Apr 12, 18 The aim of the Nucleus Connecting Clinicians Open platform is to make rare genomic data accessible to health care professionals around the world. This platform provides them with the opportunity to share knowledge and phenotypes for rare disease patients with a Variant of Uncertain Significance (VUS) and Likely Pathogenic variants. Diagnosing… Read more