Range of Genetic Tests for Inherited Cardiac Syndromes Expanded

Cardiac channelopathies are rare, potentially lethal heart conditions, including Long QT Syndrome (LQTS) and Brugada syndrome (BrS). The assays for catecholaminergic polymorphic ventricular tachycardia (CPVT) and hypertrophic cardiomyopathy (HCM) have been added to the range of Familion assays.

CPVT is an inherited heart rhythm disorder caused by mutations in critical proteins that comprise the calcium release channel (ryanodine receptor) macromolecular complex in the heart. More than 60% of affected individuals have a first episode of syncope or cardiac arrest by age 20. About 50% of affected individuals harbor a mutation in the RYR2 gene, which forms the basis of the Familion CPVT test

HCM is characterized by thickening of the heart muscle (hypertrophy) in the absence of an apparent cause such as hypertension. The Familion HCM test analyzes nine genes associated with HCM, making it the most comprehensive genetic test available for HCM testing.

Lab21 (Cambridge, UK), through its existing UK license with PGxHealth (New Have, CT, USA), offers exclusive UK and Ireland access to the Familion portfolio of tests for Long QT and Brugada syndromes, as well as the two new assays for CPVT and HCM.

Berwyn Clarke, Lab21 chief scientific and development officer commented, "We are delighted to expand our relationship with PGxHealth, who we believe is the market leader in the development of advanced genetic tests for inherited cardiac conditions. The addition of CPVT and HCM to the Familion stable substantially assists UK cardiologists in the accurate diagnosis of cardiac disease. By enabling cardiologists to quickly identify a patient's risk, the most appropriate monitoring, treatment or lifestyle options can be implemented, significantly improving patient health.”

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