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The Expert Consensus Panel recommends Familial Hypercholesterolemia genetic testing

Genetic testing of familial hypercholesterolemia (FH). Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder, genetic testing is rarely used. With costs of next-generation DNA sequencing continuing to fall, genetic testing for FH has become more accessible. Most importantly, genetic testing provides a window of opportunity whereby we can identify those individuals at significantly higher risk than the general population for CAD at a given LDL-C level. Early recognition of FH leading to guideline-based therapy will alter the natural history of this highly morbid genetic condition. Read the full article