The value of cardiac genetic testing

被引：35
作者：
Ingles, Jodie [1 ,2 ]
Semsarian, Christopher [1 ,2 ,3 ]
机构：
[1] Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW 2042, Australia
[2] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia
[3] Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, Australia
来源：
TRENDS IN CARDIOVASCULAR MEDICINE | 2014年 / 24卷 / 06期
基金：
英国医学研究理事会; 澳大利亚国家健康与医学研究理事会;
关键词：
SUDDEN UNEXPLAINED DEATH; LONG-QT SYNDROME; CARDIOMYOPATHY MUTATION CARRIERS; HYPERTROPHIC CARDIOMYOPATHY; MOLECULAR AUTOPSY; DIAGNOSTIC YIELD; EXOME DATA; DISEASE; YOUNG; PHENOTYPE;
D O I：
10.1016/j.tcm.2014.05.009
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements. (C) 2014 Elsevier Inc. All rights reserved.
引用
收藏
页码：217 / 224
页数：8
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