Enhanced Access to Genetic Testing for Individuals with Auditory Neuropathy: The Resonate Program by Akouos Offers Healthcare Providers Online Ordering of Genetic Testing through Blueprint Genetics September 22, 2021 Beginning 22 September 2021, Blueprint Genetics and Akouos, Inc. are enhancing the accessibility of the Resonate Program by offering healthcare providers an online ordering option for eligible individuals with a clinical diagnosis of auditory neuropathy in the United States. Read more
New study in pediatric epilepsy supports the value of early genetic testing as a tool for making an accurate and an early diagnosis in children September 13, 2021 A study, recently published in PLOS ONE, evaluated the clinical utility and diagnostic yield of next-generation sequencing (NGS) based genetic testing in children who had their first unprovoked seizure between 2 and 5 years representing one of the first studies in this age group. Read more
Research collaboration aims to accelerate rare disease diagnostics by combining clinical information, machine learning algorithms, and genetic testing September 09, 2021 Rare3k is a research initiative formed by Helsinki Biobank, Helsinki University Hospital (HUS), and Blueprint Genetics. By connecting large amounts of data from biobanks, healthcare, and genetic diagnostics, the study aims to develop algorithms that could accelerate the identification of patients who could benefit from genetic testing to confirm their diagnosis. Read more
The My Retina Tracker Genetic Testing Program Continues to Expand with Spark Therapeutics Joining as New Collaborator May 25, 2021 Spark Therapeutics joins as a new collaborator to the My Retina Tracker® Genetic Testing Program to broaden access for individuals living with an inherited retinal degeneration (IRD). Read more
Quest Diagnostics and Blueprint Genetics to Present New Insights from Genetic Testing at the 2021 Annual American College of Medical Genetics and Genomics Annual Clinical Genetics Meeting April 13, 2021 Multiple studies focus on genetic disorders impacting children, who are more likely to achieve favorable outcomes when diagnosed and treated early. Read more
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