News

Blueprint Genetics introduces Carrier Screening DUO Tests - the combined result of two tested individuals, to help detect if a couple is at increased risk of having a child with a specific genetic disorder. 

The major new portfolio expansion will answer the ever-increasing demand for genetics evaluations for conceiving couples and healthy individuals and provide medically actionable results.  While genetic diagnostic tests for affected individuals are a great tool for finding out the cause of…

Our Helsinki and Marlborough 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 EMEA Customer Support opening hours during the holidays: Friday,…

Helsinki Biobank, Helsinki University Hospital (HUS) and its Rare Disease Center, and Blueprint Genetics announce promising results from the first phase of the Rare3K research initiative. The unique collaboration has pioneered new ways to find individuals in biobanks who may benefit from genetic testing to obtain an accurate diagnosis. Treatment…

At Blueprint Genetics, we consider patient safety and the effectiveness of our diagnostic service as our key priorities. This is reflected in the way we have chosen to comply with the In Vitro Diagnostic Regulation (EU) 2017/746 (IVDR). On May 26 2022, the IVDR replaces the In Vitro Diagnostic Directive…

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.

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.

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.

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.

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.

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).

Multiple studies focus on genetic disorders impacting children, who are more likely to achieve favorable outcomes when diagnosed and treated early.

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.

Genetic testing to eligible individuals with auditory neuropathy at no cost to participants, their insurance, or their healthcare providers.

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.

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…