News - Blueprint Genetics

Our service hours during the holiday season

November 22, 2021

During November and December, our Helsinki and Seattle laboratories and Customer Support have a few exceptions in opening hours. Please note the closing times when shipping samples. If you have any questions regarding sample reception, we are here to help! The Helsinki laboratory and Customer Support opening hours during…

Blueprint Genetics further enhances the clinical utility of its testing offering with a major panel update

October 30, 2021

More than 650 genes have been added to 55 panels across 13 medical specialties. This update takes into account the latest, most relevant scientific findings and customer requests to maximize meaningful results for patients.

Blueprint Genetics and BioMarin collaborate to launch a sponsored testing program for individuals with skeletal dysplasia in Europe and the Middle East

October 26, 2021

The Discover Dysplasias® program offers access to no-cost genetic testing for individuals with inherited skeletal dysplasia. The program aims to facilitate early detection and more precise diagnoses, which can lead to improved patient outcomes.

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.

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.

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.

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).

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.

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.

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.

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.

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).

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.

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.

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…

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…

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