Genetic Testing for Long-QT Syndrome | Zendy

Suraj Kapa | Zendy; David J. Tester | Zendy; Benjamin A. Salisbury | Zendy; Carole HarrisKerr | Zendy; Manish Pungliya | Zendy; Mariëlle Alders | Zendy; Arthur A.M. Wilde | Zendy; Michael J. Ackerman | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

Genetic Testing for Long-QT Syndrome

Author(s) -

Suraj Kapa,

David J. Tester,

Benjamin A. Salisbury,

Carole HarrisKerr,

Manish Pungliya,

Mariëlle Alders,

Arthur A.M. Wilde,

Michael J. Ackerman

Publication year - 2009

Publication title -

circulation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 7.795

H-Index - 607

eISSN - 1524-4539

pISSN - 0009-7322

DOI - 10.1161/circulationaha.109.863076

Subject(s) - missense mutation , long qt syndrome , genetic testing , genetics , mutation , medicine , predictive testing , gene , qt interval , biology

Genetic testing for long-QT syndrome (LQTS) has diagnostic, prognostic, and therapeutic implications. Hundreds of causative mutations in 12 known LQTS-susceptibility genes have been identified. Genetic testing that includes the 3 most commonly mutated genes is available clinically. Distinguishing pathogenic mutations from innocuous rare variants is critical to the interpretation of test results. We sought to quantify the value of mutation type and gene/protein region in determining the probability of pathogenicity for mutations.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research