PANELS
Cardiology
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Overview
Our virtual panels include over 3,000 genes selected based on the most up-to-date literature, gene reviews and variant databases. Our whole genome approach offers cost-effectiveness by reducing the need for multiple targeted tests, and maximises diagnostic yield by allowing you to combine panels, select individual genes, and surface variants across all regions of the genome.
Genetics in Cardiology
Genetic analysis offers the most efficient means of categorizing hereditary cardiovascular conditions. It serves as the foundation for selecting the appropriate treatment and making well-considered decisions for managing the disease.
In the case of channelopathies, a genetic evaluation can define lifestyle suggestions, appropriate medication choices, and even inform decisions about the potential need for an implantable cardioverter-defibrillator (ICD). In aortic diseases, the identification of the underlying genetic anomaly aids in determining the optimal timing for surgical intervention. In instances of hypertrophic cardiomyopathy (HCM), genetic diagnosis becomes essential in distinguishing classical sarcomere disease from similar conditions like Fabry disease, rasopathies, and glycogen storage disease. Awareness of the specific genetic anomaly is instrumental in customizing treatment and follow-up strategies to enhance a patient’s overall outcome.
Given that the majority of these conditions are inherited in an autosomal dominant manner and carry an elevated risk of sudden cardiac death, genetic diagnosis is recognized as the most effective tool for assessing the risk for other family members. Detecting family members who are at risk enables the initiation of preventive measures and lifestyle recommendations. Furthermore, it supports the rationale for regular healthcare professional check-ups. Lifestyle advice, such as avoiding competitive sports, can be particularly advantageous for individuals with mutations related to channelopathies and cardiomyopathies. Additionally, genetic diagnosis can also provide insights for family planning considerations.
While genetic panel tests are highly valuable in cardiology, it’s essential to interpret their results in the context of a patient’s clinical presentation and other diagnostic tests. We recommend working closely with genetic counselors and other specialists to ensure that genetic information is used effectively to diagnose, treat, and manage cardiology conditions.
For further information on tailoring treatment plans to an individual’s genetic profile, leading to improved outcomes and reduced side effects, please visit our pharmacogenomics page.
