Article
The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.
Genome medicine - 28 Dec 2022
Stafford Fergus, Krishnan Neesha, Richardson Ebony, Butters Alexandra, Hespe Sophie, Burns Charlotte, Gray Belinda, Medi Caroline, Nowak Natalie, Isbister Julia C, Raju Hariharan, Richmond David, Ryan Mark P, Singer Emma S, Sy Raymond W, Yeates Laura, Bagnall Richard D, Semsarian Christopher, Ingles Jodie
Abstract excerpt
BACKGROUND: The diagnostic yield of genetic testing for inherited cardiac diseases is up to 40% and is primarily indicated for screening of at-risk relatives. Here, we evaluate the role of genomics in diagnosis and management among consecutive individuals attending a specialised clinic and identify those with the highest likelihood of having a monogenic disease. METHODS: A retrospective audit of 1697 consecutive,...
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