News

We are happy to announce the expansion of our offering portfolio. As an addition to our NGS-based tests, we now offer 3 diagnostic tests including FMR1 repeat expansion analysis. X-linked Intellectual Disability Panel with FMR1 repeat expansion is a 106-gene panel that includes assessment of non-coding variants. The panel is…

We’re excited to inform you that we have expanded our Reproductive Carrier Screening offering. The new tests listed below will include the FMR1 repeat expansion analysis: Comprehensive Reproductive Screen with FMR1 repeat expansion (CS0101) Comprehensive Reproductive Screen DUO with FMR1 repeat expansion (CS0102) Core Reproductive Screen with FMR1 repeat expansion…

Note: Blueprint Genetics does not offer this service in the US at this time  Our certified laboratory delivers sequencing services from whole genomic sequencing (WGS) and whole exome sequencing (WES) for research use. Our goal is to provide you with sequencing services necessary to transform and…

Our Helsinki laboratory will be closed on March 29th and April 1st, 2024. If you have any questions regarding sample reception, we are here to help! Contact us Global Phone: +358 40 2511 372 Email: support@blueprintgenetics.com Order online: Easy, paperless test ordering & management Our online ordering portal, Nucleus,…

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 hours during the holidays: Friday, January…

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.