Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially
fatal, treatable condition remains underdiagnosed. Despite FH being a genetic disorder…

Advances in human genetics are improving the understanding of a variety of inherited
cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, …

e289 preparations are needed before blood testing. Occasionally, a practitioner may order
a fasting homocysteine level, which requires fasting for 10 hours before the blood draw. …

Background: Long QT syndrome (LQTS) is the first described and most common inherited
arrhythmia. Over the last 25 years, multiple genes have been reported to cause this condition …

Background: Implicit in the genetic evaluation of patients with suspected genetic diseases is
the assumption that the genes evaluated are causative for the disease based on robust …

This contemporary, international, evidence-informed guidance aims to achieve the greatest
good for the greatest number of people with familial hypercholesterolaemia (FH) across …

Importance Detection of disease-associated variants in theBRCA1andBRCA2(BRCA1/2)
genes allows for cancer prevention and early diagnosis in high-risk individuals. Objectives To …

Because polygenic risk scores (PRSs) for coronary heart disease (CHD) are derived from
mainly European ancestry (EA) cohorts, their validity in African ancestry (AA) and Hispanic …

There is growing interest in communicating clinically relevant DNA sequence findings to
research participants who join projects with a primary research goal other than the clinical …

Purpose Three genetic conditions—hereditary breast and ovarian cancer syndrome, Lynch
syndrome, and familial hypercholesterolemia—have tier 1 evidence for interventions that …