News
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…
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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…
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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…
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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…
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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,…
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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,…
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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…
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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…

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