To date, thousands of cardiology patients around the world have been analyzed with our proprietary OS-Seq technology-based panels and by our team of experts in the field. High annual patient volumes in rare hereditary cardiac diseases have made us one of the leading laboratories in the world. We have used all this accumulated experience and knowledge to further improve the diagnostics. We are excited to present our completely updated test menu for cardiology.
Blueprint Genetics is a technology innovation company that aims for the highest quality in genetic diagnostics. This includes consistent review of scientific evidence and literature in order to provide the most up to date and comprehensive diagnostic panels. Accumulation of new evidence can lead to adding new genes and sometimes even removing of genes. This 2016 cardiology update includes the addition and also removal of selected genes in existing panels and the launch of new diagnostic panels.
All panels with arrhythmic genes have undergone changes. This includes changes to our top selling Arrhythmia Panel where genes have been both added and removed. In cardiomyopathies, the major change is the consolidation of our Core Cardiomyopathy and Pan Cardiomyopathy Panels in to the Cardiomyopathy Panel, which is now a 134 gene comprehensive tool for cases with an unclear or complex cardiomyopathy phenotype, and also for childhood onset cardiomyopathy. We have also added a specific panel for LVNC as a new cardiomyopathy panel. Further, we have renamed our Heart Panel to Comprehensive Cardiology Panel, 165 genes, that combines, as before, channelopathy and cardiomyopathy genes, and is mainly recommended in sudden death diagnostics and research applications. Significant gene additions have now been made to our Aorta and Marfan Panels, which now have a more comprehensive approach to connective tissue disorder differential diagnostics. In addition, our Noonan Panel and PAH Panels are significantly improved by the inclusion of new genes.
We now have a larger profile of cardiology genetics with the addition of the following panels: Atrial Fibrillation Panel, Congenital Structural Heart Disease Panel, Ehlers-Danlos Panel, Hereditary Hemorrhagic Telangiectasia (HHT) Panel, Liddle Syndrome Panel, and Left Ventricular Non-Compaction Cardiomyopathy (LVNC) Panel. These panels target certain very specific phenotypes in clinical diagnostics.
You can download the following document to have more precise information on what is updated on our gene and panel composition. All panel descriptions can be found on the test menu.
We hope these panel updates will further improve our diagnostic yield and rationalize the diagnostic process. We are also happy to answer any questions and suggestions. Please send your comments or questions to our Clinical Genetics Support firstname.lastname@example.org.