Clinical Genetic Testing for Familial Hypercholesterolemia
نویسندگان
چکیده
منابع مشابه
Genetic Testing for Heterozygous Familial Hypercholesterolemia
Genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) may be considered MEDICALLY NECESSARY when a definitive diagnosis is required as an eligibility criterion for specialty medications and when the following criteria are met: Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical...
متن کاملGenetic Testing for Heterozygous Familial Hypercholesterolemia
Patient Selection Criteria Coverage eligibility for genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) will be met when: Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical exam, lipid levels), AND Alternative treatment considerations are in place for individuals who have ...
متن کاملGenetic Analysis of Iranian Patients with Familial Hypercholesterolemia
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...
متن کاملGenetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing
Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-onset coronary artery disease. Although some clinically diagnosed FH cases are caused by mutations in LDLR, APOB, or PCSK9, mutation detection rates and profiles can vary across ethnic groups. In this study, we aimed to provide insight into the spectrum of FH-causing mutations in Koreans. Among 136 patients...
متن کاملFamilial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2018
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2018.05.044