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Improving quality: Blueprint Genetics updates panels and prepares for the launch of mitochondrial DNA testing later this year

Oct 18, 19

Blueprint Genetics is adding over 400 genes to 138 panels and introducing an improved clinical-grade Next Generation Sequencing assay for panels, single genes and variant specific testing. This update includes a number of recently discovered, clinically relevant deep intronic and regulatory variants and will facilitate the introduction of mitochondrial…

Blueprint Genetics, InformedDNA and the Foundation Fighting Blindness launch an open access program for patients with inherited retinal disease in the United States

Oct 02, 19

Beginning in October 2019, this new program offers patients with inherited retinal disease (IRD) access to no-cost genetic testing and genetic counseling in the United States. The program will streamline clinical workflow by providing the highest possible diagnostic yield, enabling faster and more straightforward follow-ups to patients. The new program…

Blueprint Genetics and ARCHIMEDlife form a partnership to launch high quality biochemical testing for Rare Diseases in North America

Sep 24, 19

Combining high-quality biochemical testing with innovative genetic testing forms a powerful tool for personalized medicine, clinical research and diagnostics in rare diseases. ARCHIMEDlife Medical Laboratory, based in Vienna, provides biochemical and genetic testing for rare diseases, ranging from inborn errors of metabolism to endocrinology and beyond. Blueprint Genetics, based…

Move announcement: New facility in Seattle – what you need to know

Jul 09, 19

Blueprint Genetics is excited to announce that beginning July 22nd, we will be moving our sample accessioning, client services and billing services teams to our new expanded facility in Seattle, WA. These new, larger premises will allow us to support our increasing test volumes and provide exceptional customer service to…

New address announcement: Blueprint Genetics establishes a new laboratory in Finland

Jul 08, 19

Blueprint Genetics is establishing a new, state-of-the-art genetic diagnostic laboratory in Espoo, Finland, and will relocate all operations in Finland to the new location. Our facilities will be operational on August 8, 2019.

Blueprint Genetics expands in North America by building a new CLIA/CAP NGS facility in Seattle

May 23, 19

The need for more space and expansion of the North American team will support the strong growth in sample volumes, new customers and partnerships. “The expansion to Seattle marks an important milestone for Blueprint Genetics. In the past two years, we have grown significantly and now need more infrastructure and…

A study of 183 index patients demonstrates enhanced diagnostic performance of NGS-based panel testing including the PKD1 gene

Apr 04, 19

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.

Latest Panel Update: Introducing six improved cardiology panels

Mar 29, 19

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,…

Blueprint Genetics to provide diagnostic testing for National Eye Institute’s eyeGENE initiative

Mar 19, 19

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.

The genetic causes of Dilated Cardiomyopathy: TTN missense and NFS-INDEL variants should be classified as likely benign, study finds

Mar 12, 19

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.

Blueprint Genetics strengthens its pharmaceutical expertise with new Chairman Hilde Furberg and by appointing Guido Oelkers as a Senior Advisor

Dec 05, 18

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…

Blueprint Genetics expands capabilities in the detection and confirmation of difficult-to-sequence regions

Oct 17, 18

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,…

A Finnish study finds evidence indicating the JPH2 gene to be causative in hypertrophic cardiomyopathy

Sep 21, 18

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,…

New in Immunology: Primary Immunodeficiency / Primary Ciliary Dyskinesia Panel

Jun 12, 18

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…

Difficult-to-sequence genes in ophthalmology: improved sequencing coverage and mapping quality in ORF15 enable unmatched diagnostic yield in XLRP

Apr 30, 18

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…

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

Apr 12, 18

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…

New in ophthalmology panels

Mar 16, 18

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…

Introducing a more targeted malformations panel content

Mar 16, 18

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…

Setting a new standard for quality in cardiology

Mar 16, 18

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…

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

Mar 06, 18

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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