Many cardiovascular disorders are hereditary and often very difficult to diagnose without a genetic test.

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Early identification and treatment can be life-saving

Genetic testing can help decide the most effective course of treatment for a patient, identify family members at risk and provide other important diagnostic and prognostic information.

For most hereditary cardiovascular diseases, first-degree family members (parents, siblings, children) have a 50% risk of having the same disease-causing genetic variant. Once a family’s variant is identified, family members carrying the variant can be identified through cascade testing. Negative results eliminate the need for on-going clinical screening for many. Positive results mean at-risk family members can be monitored and treated early.

Related articles

Whitepaper: Familial hypercholesterolemia: Genetic diagnosis and cascade testing using NGS

Scientific publications

Identification of two novel LDLR variants by next generation sequencing. S. Moffa et al., Ann Ist Super Sanita. Jan-Mar2020;56(1):122-127

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