Published on April 4, 2019
The diagnostic yield of genetic testing in a phenotypically heterogeneous cohort of 183 patients with cystic kidney disease was 54%. Almost 2 out of 3 disease-causing variants were identified in PKD1, a particularly difficult-to-sequence gene.
Read morePublished on March 29, 2019
A total of 44 genes have been added to six cardiology panels. This update has taken into account the latest findings in the field and further enhances the clinical utility of these panels. From discovery to action The latest scientific evidence and literature was reviewed resulting in clinically relevant,…
Read morePublished on March 19, 2019
Beginning in March 2019, Blueprint Genetics will provide diagnostic testing as part of the National Eye Institute’s (NEI) eyeGENE initiative. EyeGENE’s core mission is to facilitate research into the causes and mechanisms of rare inherited eye diseases and accelerate pathways to treatment.
Read morePublished on March 12, 2019
The lack of enrichment of non-frameshifting insertions/deletions (NFS-INDELs) in a large primary cohort of DCM patients suggests that these variants are likely non-contributory to Dilated cardiomyopathy (DCM), says a recent study published in Sci Rep.
Read morePublished on December 5, 2018
Blueprint Genetics has gained worldwide momentum and continued global growth in the field of clinical genetic testing of rare inherited diseases. As one of the fastest growing clinical genetic testing businesses globally, Blueprint Genetics has a customer base spanning more than 40 countries. Today, Blueprint Genetics is proud to announce…
Read morePublished on October 17, 2018
The latest advancement in Blueprint Genetics’ production environment involves customized sequencing solutions for difficult-to-sequence genes, designed to maximize detection of clinically relevant variants. Currently, the most extensive developments are in genes SMN1/SMN2, PKD1 and RPGR (ORF15), associated with spinal muscular atrophy, autosomal dominant polycystic kidney disease and X-linked retinitis pigmentosa,…
Read morePublished on September 21, 2018
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,…
Read morePublished 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 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 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 moreCommunication manager