Is ideal for patients with a diagnosis of laterality disorder.Read more
CardiologyWe offer comprehensive genetic diagnostics for all hereditary cardiovascular diseases, including diseases such as cardiomyopathies, channelopathies, aortopathies, connective tissue disorders, pulmonary arterial hypertension, congenital heart defects, rasopathies, and inherited dyslipidemias.
Genetic testing for cardiology
Our panels include over 2600 genes selected based on curated gene reviews, variant databases (HGMD and ClinVar), most recent literature, and customer requests. We offer enhanced clinical utility, maximized diagnostic yield, empowered differential diagnosis as well as analytically validated up-to-date genes across all our panels. Difficult-to-sequence genes are covered with high quality enabling true diagnostic impact in challenging patient cases.
Genetic diagnostics is becoming a mainstream practice in the field of cardiology and is recommended in guidelines from AHA, HRS-EHRA, ESC, and CCS (PMID: 22075469, 20823110, 21810866, and 21459272). It is also proven to be cost-effective as compared with regular clinical screening (PMID: 22128210 and 21139095).
What genetic diagnostics can offer patients with cardiological diseases
Genetic diagnostics is the most efficient way to subtype hereditary cardiovascular diseases. It forms the basis for selecting the right treatment and making well-informed disease management decisions.
In channelopathies, a genetic diagnosis can help to define lifestyle recommendations and select adequate medications, as well as aid in making decisions on placing an ICD. In aortic diseases, identifying the underlying genetic defect can help determine the timing of surgical intervention. For hypertrophic cardiomyopathy (HCM), a genetic diagnosis can be the only way to differentiate classical sarcomere disease from phenocopies such as Fabry disease, rasopathies, and glycogen storage disease. Knowing the underlying genetic defect can help to tailor treatment and follow-up strategies that improve a patient’s outcome.
As a majority of these diseases are inherited in an autosomal dominant manner and have an elevated risk for sudden cardiac death, genetic diagnosis is considered the most effective tool for family-member risk stratification. Identifying family members at risk makes it possible to begin preventive treatments and/or make lifestyle recommendations. It also justifies routine follow-ups by healthcare professionals. Recommendations on lifestyle choices, such as avoiding competitive sports, can significantly benefit individuals carrying channelopathy and cardiomyopathy mutations. Genetic diagnosis can also help in family planning.
A selection of our cardiology panels
Find the right test for your patient
Published on September 28, 2016
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…Read more
HIRO program: A new model for improving management and care of patients with hereditary cardiovascular disease
Published on August 11, 2017
In this podcast Dr. Tero-Pekka Alastalo from Blueprint Genetics discusses with Dr. Krahn about the HIRO program and walk through the motivation, the history, the goals and the future of HIRO. It also involves discussion on using genetic testing in hereditary cardiovascular diseases. The discussion also addresses why the HIRO initiative is internationally unique and could be used as an operative model in other rare diseases and in other countries than Canada.
Looking for transparency Dr. Tero-Pekka Alastalo discusses how sequencing technologies and the chosen strategy in a lab can define quality and yield, highlighting bioinformatics and interpretation as being the biggest challenges in the current market. He also discusses what can make a lab transparent in its services and what is…See more