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.
Summary Genetic testing is recommended for individuals with suspected heritable thoracic aortic disease (HTAD), as results can guide management, determine whether additional surveillance for extra cardiac features is indicated, and identify at- risk relatives. To further demonstrate the value of genetic testing for these patients, we reviewed results from…
Summary Pancreatitis can result from a combination of both genetic and non-genetic factors. Some genetic variants are highly penetrant, while others act as low penetrance “disease modifying” contributors, making results difficult to interpret. To better understand the inheritance patterns and complexity of results,, we reviewed genetic testing results from…
Summary Background: As the importance of genetic testing in primary immunodeficiency (PID) grows, this study aimed to add to the knowledge of genetics of PID by employing advanced sequencing techniques and focusing on difficult-to-sequence gene regions. Methods: A retrospective review of nearly 2,200 patients suspected of PID,…
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