News

The My Retina Tracker Program, a collaboration between Blueprint Genetics, Foundation Fighting Blindness and InformedDNA, is an open access, no-cost program that offers individuals with IRD living in the US easy access to high-quality genetic diagnostics and genetic counseling. AGTC joins the program as a new scientific collaborator to enhance development of  their investigational gene therapy for inherited retinal diseases (IRD).

The Blueprint Genetics clinical statement has been updated to provide quicker access to an overview of genetic test results. Following valued customer feedback, a summary of all findings has been added to the report. 

The North American Immuno-Hematology Clinical Education & Research (NICER) Consortium and Blueprint Genetics have collaborated together to assemble a genetic test with the highest diagnostic potential for patients with immunologic and hematologic disorders. The new “Comprehensive Immune and Cytopenia Panel,” which is performed on a whole exome sequencing backbone, will support the creation of a patient registry and innovative research in the field.

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…

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…

My Retina Tracker Program is the highest volume IRD genetic testing program in the US [Helsinki, February 6, 2020—] 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…

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…

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…

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…

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…

Blueprint Genetics is excited to announce that beginning July 22, 2019, 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…

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.

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 2 years, we have grown significantly and now need more infrastructure and…

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.

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,…

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.

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.

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…

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,…

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,…