News

From phenotype to diagnosis: Blueprint Genetics launches an open digital platform to connect clinicians based on matching rare variants

Published on April 12, 2018

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…

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New in ophthalmology panels

Published on March 16, 2018

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…

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Introducing a more targeted malformations panel content

Published on March 16, 2018

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…

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Setting a new standard for quality in cardiology

Published on March 16, 2018

A total of 100 new genes were added to updated cardiology panels in March. The panels are designed for different cardiology conditions. 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…

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Cardiology case of the month: The path to a correct diagnosis

Published on March 6, 2018

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…

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Full transparency sets a new standard for quality

Published on July 21, 2017

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…

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Blueprint welcomes new investors!

Published on July 11, 2017

We are extremely happy to welcome two new investors on board Blueprint Genetics. Our new partners are Creathor, a venture fund based in Germany, and MTIP (MedTech Innovation Partners), a venture fund based in Switzerland. Our existing investors are also participating in the funding round that totals €14m. As a…

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Introducing the updated and improved ophthalmology genetic diagnostic panels

Published on June 22, 2017

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…

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Research Associate

Published on June 19, 2017

Blueprint Genetics is looking for a highly motivated and skilled Research Associate, starting as soon as possible in Helsinki, Finland.   This position involves planning and executing various research and development projects in the laboratory. An ideal candidate has ability to independently design and conduct molecular biology assays and is familiar…

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Panel update for ophthalmology, gastroenterology, and pulmonology

Published on June 1, 2017

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…

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Laboratory Technician

Published on May 30, 2017

Blueprint Genetics is looking for a highly motivated and skilled Laboratory Technician for a full-time position, starting as soon as possible in Helsinki, Finland.   Responsibilities: The duties for this position include but are not limited to the following: Performing laboratory testing (NGS and Sanger sequencing) on patient specimens including…

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Medical and Clinical Laboratory Technician or Technologist

Published on April 27, 2017

We are currently looking for a Medical and Clinical Laboratory Technician or Technologist to join our growing operation in San Francisco. This is a full time position.   Responsibilities: The duties for this position include but are not limited to the following: Receiving, evaluating and processing specimens and accompanying requisitions from our North…

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We are proud to sponsor FDNA’s Year of Discovery again in May to accelerate advancements for patients with metabolic conditions

Published on April 27, 2017

FDNA’s Year of Discovery unites clinicians, labs and patients for rare disease advancements. Throughout the month of May, FDNA and Blueprint Genetics will be driving discoveries for metabolic conditions, including storage disorders. As part of the initiative, Blueprint Genetics has pledged a donation of up to $2,500 in May to…

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New panels for genetic testing of a suspected skeletal dysplasia or skeletal disorder

Published on April 25, 2017

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…

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New panels for diagnosing hereditary cancer 

Published on April 25, 2017

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.

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Board Certified Genetic Counselor

Published on April 5, 2017

We are currently looking for a Board Certified Genetic Counselor to join our Clinical Genetics Support Team. This position is based out of our San Francisco office and will be PT initially but could lead to Full Time.   Responsibilities: The duties for this position include but are not limited…

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We’re hiring a ABMG certified Geneticist to join our Clinical Operation Team

Published on April 3, 2017

We seek a highly motivated individual who can utilize their superior clinical and technical skills in providing state-of-the-art clinical test reports and genetic diagnostic service. We are looking for highly motivated individuals who demonstrate effort and initiative; team players who are willing to accept personal accountability for successful job performance…

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Blueprint receives the BioFinland Award 2017

Published on March 29, 2017

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…

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