Looking ahead—expanding to cover all inherited disorders

Published on October 8, 2015

During the last couple of years, we’ve focused our efforts on developing our cardiovascular diagnostics. This emphasis has helped establish our place as one of the leading global providers of cardiovascular genetic diagnostics. As of March 2016, we are taking the company to a next level by radically expanding our test portfolio to over 200 panels in 13 medical specialties, covering all inherited disorders.

We are building a large sequencing platform that sequences 1,500 genes with very high clinical grade quality.

It will hold the same advantages as our cardiac panels: very high coverage, large gene sets per panel, low pricing, a fast turnaround time of 21 days, and our strong clinical insight in reporting. Our sequencing is done with OS-Seq and NextSeq instruments, bioinformatics will include CNV and repeat analysis and sequencing will also cover Mitochondrial sequencing.

IBM-Watson technology and a global network for clinicians

We want to make a revolution to clinical interpretation by building a genetic data platform that is based on the IBM Watson–technology, a showcase will follow later this year. We will introduce a totally new way to do interpretation and diagnostics for even higher quality. At the same time we are are launching both tools for clinicians as well as a network that matches and connects clinicians all over the world through mutations found in the test. This tool will add knowledge through collaboration especially in areas where publications and studies are hard to find

By all this we are aiming to become a one-stop-shop for clinical genetic diagnostics for inherited disorders. More announcements and showcases will follow during the following months. Welcome to join our revolution!

Last modified: 10.08.2015


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

Published 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,…

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