Our panels include over 3,000 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.
Note: due to a temporary technical limitation the newsletter subscription form below does not load in some browsers if cookies have not been allowed. If you do not see the form below, please allow cookies by clicking here to open the cookie preference centre, then allow cookies and reload this page. You can disallow cookies once you have signed up if you wish.
In this educational webinar, Professor Moosajee presents recent work in genetic eye disorders, including discoveries, which may provide patients with an answer for their diagnosis, better guide management strategies, and define risks for family members.
The European Human Genetics Conference 2024 View our recording of Blueprint Genetics at the European Human Genetics Conference June 1–4, 2024 in Berlin, Germany.
In this webinar, we explore the genetic underpinnings of mitochondrial diseases, spotlighting the mitochondrial genome and the intricacies of mtDNA testing via next-generation sequencing.
Note: due to a temporary technical limitation the newsletter subscription form below does not load in some browsers if cookies have not been allowed. If you do not see the form below, please allow cookies by clicking here to open the cookie preference centre, then allow cookies and reload this page. You can disallow cookies once you have signed up if you wish.
Order a specimen kit
Please be advised that a specimen collection kit must be requested by a medical professional.
If you are a patient or family member of a patient, please contact your provider to place a kit order on your behalf.