Published on June 12, 2018
The aim of the new panel is to increase the clinical utility and diagnostic yield for patients with a clinical suspicion of primary immunodeficiency (PID), especially for those patients where primary ciliary dyskinesia (PCD) is included in the differential diagnosis. In these cases, the core symptoms are often very similar…
Read morePublished on April 30, 2018
Blueprint Genetics’ updated technology enables improved coverage and sensitivity in clinically relevant and challenging genes such as RPGR and especially the ORF15 region of this gene. Current next generations sequencing (NGS) strategies and standard Sanger sequencing do not adequately cover the RPGR ORF15 region, leading to poor sensitivity and decreased…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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, 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…
Read morePublished 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…
Read morePublished on March 5, 2018
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…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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…
Read morePublished on May 3, 2017
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…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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…
Read morePublished 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.
Read morePublished 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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