New study finds evidence indicating the NRAP gene to be a significant cause of recessive dilated cardiomyopathy February 03, 2021 New study sheds light on the genetic causes of dilated cardiomyopathy by finding a strong link between the nebulin-related anchoring protein gene (NRAP) and autosomal recessive dilated cardiomyopathy. Inclusion of this gene in cardiology gene panels is key for diagnosing individuals with a clinical suspicion of this condition. Read more
Akouos and Blueprint Genetics Announce the Resonate Program to Improve Access to Genetic Testing for Individuals with Auditory Neuropathy January 11, 2021 Genetic testing to eligible individuals with auditory neuropathy at no cost to participants, their insurance, or their healthcare providers. Read more
Our service hours during the holiday season December 10, 2020 The Helsinki laboratory and Customer Support opening hours during the holidays: Wednesday, December 23, 2020: 8am – 5pm GMT+2 Thursday, December 24, 2020: Closed Friday, December 25, 2020: Closed Monday, December 28 to Thursday, December 31, 2020: 8am – 5pm GMT+2 Friday, January 1, 2021: Closed Wednesday, January 6, 2021:… Read more
New buccal swabs for easier sample collection available from November 23, 2020 November 09, 2020 New Ora-Collect OCR-100/OCD-100 buccal swabs will be available for healthcare providers to order through our website or online portal, Nucleus. This new specimen collection kit addresses the need for more accessible sample collection, especially for pediatric patients or when collecting sufficient sample volume with a traditional saliva kit is otherwise challenging. Read more
AGTC Joins the My Retina Tracker® Program as a New Scientific Collaborator October 07, 2020 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). Read more
New and improved clinical report September 02, 2020 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. Read more
NICER and Blueprint Genetics Collaborate to Improve Genetic Testing for Immunologic and Hematologic disorders April 20, 2020 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. Read more
Our commitment to providing you with high-quality service during COVID-19 March 17, 2020 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
Setting a new standard for high-quality panel-based testing with mitochondrial DNA analysis February 24, 2020 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
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 February 06, 2020 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… Read more
Quest Diagnostics Acquires Blueprint Genetics to Broaden Access to Actionable Insights for Genetic and Rare Diseases January 22, 2020 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
Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year October 18, 2019 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
Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States October 02, 2019 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
Blueprint Genetics and ARCHIMEDlife form a partnership to launch high-quality biochemical testing for rare diseases in North America September 24, 2019 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
Move announcement: New facility in Seattle – what you need to know July 09, 2019 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… Read more
New address announcement: Blueprint Genetics establishes a new laboratory in Finland July 08, 2019 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
Blueprint Genetics expands in North America by building a new CLIA/CAP NGS facility in Seattle May 23, 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… Read more
A study of 183 index patients demonstrates enhanced diagnostic performance of NGS-based panel testing including the PKD1 gene April 04, 2019 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
Latest Panel Update: Introducing six improved cardiology panels March 29, 2019 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
Blueprint Genetics to provide diagnostic testing for National Eye Institute’s eyeGENE initiative March 19, 2019 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