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Cardiovascular disorders

Blueprint Genetics wants to change the field of cardiogenetics by providing our customers the most rapid and comprehensive diagnostics and clinical interpretation available. Blueprint Genetics diagnostic panels cover majority of genes associated with cardiomyopathies, arrhythmias and vascular diseases.

 

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Genetic diagnostics for 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, genetic diagnosis can help to define lifestyle recommendations and select ad-equate 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), 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, and justify routine followups by health care 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.

Our diagnostic process

From sample to clinical interpretation

  1. Ordering and sample preparation

    After receiving a patient’s medical history and sample we start the sample preparations in our CAP & ISO 15189 accredited and CLIA certified laboratory.

  2. Sequencing

    We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.

  3. Data analysis and interpretation

    We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.

  4. Clinical statement

    Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.

  1. Sample
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  2. Sequencing
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  3. Analysis
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  4. Report
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