This study1 provides the first substantial evidence of the JPH2 gene associating with monogenic familial hypertrophic cardiomyopathy (HCM). The study ‘Heterozygous Junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure’ was published recently in PLOS ONE. Hypertrophic cardiomyopathy is considered the most common form of inherited cardiomyopathies,…
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…
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…
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…
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…
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…
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…
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 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…
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…
FDNA provides a HIPAA-compliant Face2Gene deep learning technology that de-identifies and analyzes cases to identify new phenotypes, facial characteristics and genes that are associated with rare diseases. The new Face2Gene case report enables a clinician to share their patient’s case phenotype with Blueprint Genetics to help improve variant filtering and…
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