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.
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.
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).
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.
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…
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…
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…
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…
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…
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…

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