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

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

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

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

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…
Blueprint Genetics on valittu vuoden 2017 Kasvunrakentajaksi

March 17, 2017

Vuoden 2017 Kasvunrakentaja on Blueprint Genetics. Suomen pääomasijoitusyhdistys – FVCA:n ja PwC:n yhteistyössä järjestämän Kasvunrakentaja 2017 -kilpailun finaalissa etsittiin pääomasijoittajien yli 700 kohdeyhtiön joukosta mielenkiintoisinta ja innostavinta tarinaa. Suomen pääomasijoitusyhdistyksen ja PwC:n Kasvunrakentaja 2017 -kilpailun voittajaksi valittiin Blueprint Genetics, jonka geenitestausteknologia auttaa löytämään harvinaisia perinnöllisiä tauteja.
Comprehensive panel based approach to clinical genetics, with over 200 panels covering 14 medically relevant specialties

February 23, 2017

We are on a mission to challenge the standards of clinical genetic diagnostics to enable better patient care. Over the last 5 years we have developed unique sequencing technologies, in-house bioinformatics and interpretation solutions to improve rare disease genetic diagnostics. Without compromising quality and performance, our innovations are enabling more affordable…

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