News

The aim of the Nucleus Connecting Clinicians Open platform is to make rare genomic data accessible to health care professionals around the world. This platform provides them with the opportunity to share knowledge and phenotypes for rare disease patients with a Variant of Uncertain Significance (VUS) and Likely Pathogenic variants. Diagnosing…

We are proud to introduce our new improved panels. Since March 1st, a total of 157 panels have been updated and 21 new panels launched. Among the updated panels are ophthalmology genetic diagnostic panels, where we have significant improvement of quality and performance of genetic diagnostic testing for patients with…

In March, Blueprint Genetics introduced new improved panels. The updated panels include over 660 added genes selected after careful inspection using most recent literature, variant databases (HGMD and ClinVar), and customer requests. The updated malformation panels cover a broad spectrum of connective tissue and skeletal disorders. These syndromes can manifest…

A total of 100 new genes were added to updated cardiology panels in March. The panels are designed for different cardiology conditions, including a new Heterotaxy and Situs Inversus Panel of 32 genes. Significant improvements Dilated Cardiomyopathy (DCM) Panel has increased from 27 genes to 69 genes. “All genes are…

As genetic diagnostics is becoming a mainstream practice in the field of cardiology, new important information is found to form the basis for discovering the correct diagnosis and treatment of patients. Sometimes, genetic diagnosis can be extremely important in establishing the root cause of poor heart function. Case: Catecholaminergic Polymorphic…

Blueprint Genetics is setting a new standard for quality with the introduction of new and improved panels. A total of 157 panels have been updated and 21 new panels launched. A transition has been made to a new production platform where all the panels are sliced from customized high-quality…

Blueprint Genetics is committed to provide the highest quality genetic testing for our customers. Since quality is something that can be proven, we are proud to transparently share our full set of quality metrics with you. To be able to show the different aspects of quality in genetic testing, we…

Blueprint Genetics has been working towards improving the quality and performance of genetic diagnostic testing for patients with inherited eye disorders. All panels are based on our unique OS-Seq technology that enables high-quality analysis of single nucleotide variants (SNVs), insertions and deletions (indels) and copy number variations (CNVs). Our technological innovations…

We are excited to announce the latest updates to our test menu. We have added some deep intronic and non-coding variants to the tested target regions that have been reported as pathogenic in the literature and are classified as likely pathogenic or pathogenic in ClinVar. These include for example the recurrent…

Apr 20, 2017 | Julia Karow | Genomeweb NEW YORK (GenomeWeb) – Genetic testing for inherited retinal diseases is often not covered routinely by health insurance, yet a molecular diagnosis is required for enrollment in a number of clinical trials for new gene- or mutation-specific…

New Comprehensive Skeletal Dysplasias and Disorders panel (186 genes) contains the genes from larger Comprehensive Skeletal/Malformation Syndrome Panel that are relevant for a skeletal phenotype and are included in the Nosology and Classification of Genetic Skeletal Disorders 2015 revision. It offers high differential diagnosis power and limits the tested genes…

We are now providing a more targeted panel for high risk breast cancer diagnostics. The Hereditary Breast Cancer High Risk Panel analyzes seven genes associated with inherited susceptibility to breast cancer. We have also added a new 27-gene panel to our test menu for diagnosing inherited susceptibility to breast and gynecological cancer.

We are very proud and thankful to receive the BioFinland Award 2017, today on March 29th. This is a great recognition to the whole team that constantly works to bring genetic testing of inherited disorders into mainstream healthcare, cost efficiently without ever compromising quality. The awards is presented by the Finnish Bioindustries…

Vuoden 2017 Kasvunrakentaja on Blueprint Genetics. Suomen pääomasijoitusyhdistys – FVCA:n ja PwC:n yhteistyössä järjestämän Kasvunrakentaja 2017 -kilpailun finaalissa etsittiin pääomasijoittajien yli 700 kohdeyhtiön joukosta mielenkiintoisinta ja innostavinta tarinaa. Suomen pääomasijoitusyhdistyksen ja PwC:n Kasvunrakentaja 2017 -kilpailun voittajaksi valittiin Blueprint Genetics, jonka geenitestausteknologia auttaa löytämään harvinaisia perinnöllisiä tauteja.

We are on a mission to challenge the standards of clinical genetic diagnostics to enable better patient care. Over the last 5 years we have developed unique sequencing technologies, in-house bioinformatics and interpretation solutions to improve rare disease genetic diagnostics. Without compromising quality and performance, our innovations are enabling more affordable…

We now provide a high-resolution Del/Dup assay to overcome the diagnostic limitations of other known methods. We utilize the OS-Seq based high-coverage NGS data to detect deletions and duplications. The resolution of the assay has been improved recently and it has a detection limit of one to four exons for…

We are happy to introduce our new networking platform Connecting Clinicians which offers a unique possibility for clinicians globally to get connected based on identically matching variants. With this we want to contribute to the rare disease diagnostics and research by connecting clinicians treating patients with the same rare genetic conditions…

The Jury of Talouslämä, a Finnish weekly business magazine listed the top ten hottest start-up companies in Finland. The selection was made among hundreds of companies. We are delighted to be on the list for the third year in a row!   Read the whole article: http://www.talouselama.fi/lehti/talouselama-kokosi-suomen-10-kuuminta-startup-yhtiota-tassa-ne-ovat-6625765   Talouselämä 6/2017, published…

Article about the life science and health technology innovations and the growth of the healthcare industry in Finland on Kauppalehti Optio, a Finnish business magazine. To read the whole article (available in Finnish only), click here.   Blueprint Genetics yhdessä muiden life science ja terveysalanyritysten kanssa viemässä huipputason terveysteknologiaa…

Read the IBM Case study how Blueprint Genetics uses IBM Watson cognitive analytics to speed up the genetic data interpretation and to expand the product offering. “By eliminating one of the biggest operational bottlenecks, we have been able to achieve our goal of transforming our business from…