Setting a new standard for quality in cardiology

Published 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 added based on relevance, the size of panels is not a goal in itself. We can with confidence say that the most relevant content in this space has been included. In Congenital Structural Heart Disease Panel, we added 36 genes, increasing the total amount to 62. We are expecting a significant increase in diagnostic yield”, explains Laboratory Director and Chief Medical Officer Juha Koskenvuo.

The Noonan Syndrome Panel Koskenvuo describes to be of unparalleled quality. It is a 22-gene panel containing more genes causing Noonan spectrum diseases and providing better differential diagnostics power by covering also Legius syndrome, Baraitser-Winter syndrome and neurofibromatosis. Noonan syndrome has an estimated prevalence of 1 in 1,000 to 1 in 2,500 live births. As clinically and genetically heterogeneous condition, it is characterized by cardiovascular abnormalities, distinctive facial features, chest deformity, short stature, and other co-morbidities.

“The Noonan Syndrome Panel covers many only recently discovered rasopathy genes such as RRAS, PPP1CB, NRAS, and RASA2 not included in most panels in the market. The diagnostic yield for Noonan Syndrome Panel has been 41% for the second half of 2017. With the updated panel content, we expect even higher results”, Koskenvuo continues.

The updated panels offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. In cardiology, we offer a total of 23 panels.

Read more here

Last modified: 05.02.2018

News

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

Published 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 more

Subscribe to our newsletter