Article
Yield of the RYR2 Genetic Test in Suspected Catecholaminergic Polymorphic Ventricular Tachycardia and Implications for Test Interpretation.
Circulation. Genomic and precision medicine - 1 Feb 2018
Kapplinger Jamie D, Pundi Krishna N, Larson Nicholas B, Callis Thomas E, Tester David J, Bikker Hennie, Wilde Arthur A M, Ackerman Michael J
Abstract excerpt
BACKGROUND: Pathogenic RYR2 variants account for ≈60% of clinically definite cases of catecholaminergic polymorphic ventricular tachycardia. However, the rate of rare benign RYR2 variants identified in the general population remains a challenge for genetic test interpretation. Therefore, we examined the results of the RYR2 genetic test among patients referred for commercial genetic testing and examined factors...
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