Our panels include over 3,900 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).
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.
Ordering a test from us is quick and simple. You can order online using our secure portal, Nucleus, or send us a requisition form by mail.
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Read moreAdvancements in sequencing technology have led to molecular diagnostics becoming an increasingly powerful and accessible tool for patients with inherited disorders across various medical specialties. During this webinar, Laboratory Director Dr Jennifer Schleit will explain how sequencing quality and data interpretation impact the identification of diagnostic variants in molecular genetic testing. Additional capabilities in NGS, including copy number variant (CNV) detection and mitochondrial DNA analysis, will also be addressed.
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