Genetic diagnosis of familial hypercholesterolaemia using a rapid biochip array assay for 40 common LDLR, APOB and PCSK9 mutations

Martin, Rosalind; Latten, Mark J; Hart, P. M.; Murray, Helena; Bailie, Deborah A.; Crockard, Martin; Lamont, John; Fitzgerald, Peter; Graham, Colin A.

doi:10.1016/j.atherosclerosis.2016.09.061

Cited by 8 publications

(4 citation statements)

References 19 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…An FH biochip array protocol is followed by using samples analyzed for FH variants prior to incorporation into cascade screening. Study results estimate that NGS is five times more expensive than the cost of testing and reporting one sample through the FH Biochip technique due to the latter’s high sensitivity and rapid detection ability ( Martin et al, 2016 ).…”

Section: From Diagnosis Methods To Therapy Strategies Of Fh Based On mentioning

confidence: 99%

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis

2020

View full text Add to dashboard Cite

Autosomal dominant familial hypercholesterolemia (FH) affects approximately 1/250, individuals and potentially leads to elevated blood cholesterol and a significantly increased risk of atherosclerosis. Along with improvements in detection and the increased early diagnosis and treatment, the serious burden of FH on families and society has become increasingly apparent. Since FH is strongly associated with proprotein convertase subtilisin/kexin type 9 ( PCSK9 ), increasing numbers of studies have focused on finding effective diagnostic and therapeutic methods based on PCSK9 . At present, as PCSK9 is one of the main pathogenic FH genes, its contribution to FH deserves more explorative research.

show abstract

Section: From Diagnosis Methods To Therapy Strategies Of Fh Based On mentioning

confidence: 99%

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis

2020

View full text Add to dashboard Cite

show abstract

“…Several types of genetic test are available, which adopt different approaches. The most rapid tests aim to identify a specific mutation in the LDLR, APOB, or PCSK9 genes that has already been identified in another family member ( 11 ). At the opposite, extreme are tests that check for all known and possible mutations in recognized disease genes [i.e., next-generation sequencing (NGS) for comprehensive mutation detection or in specific loci of interest] ( 12 ).…”

Section: Introductionmentioning

confidence: 99%

Familial Hypercholesterolemia: A Systematic Review of Guidelines on Genetic Testing and Patient Management

Migliara

Baccolini

Rosso

et al. 2017

Front. Public Health

View full text Add to dashboard Cite

BackgroundFamilial hypercholesterolemia (FH) is an autosomal-dominant hereditary disorder of lipid metabolism that causes lifelong exposure to increased LDL levels resulting in premature coronary heart disease and, if untreated, death. Recent studies have shown its prevalence to be higher than previously considered, which has important implications for the mortality and morbidity of associated cardiovascular disease (CVD). Several clinical tools are used worldwide to help physicians diagnose FH, but nevertheless most patients remain undetected. This systematic review of guidelines aims to assess the role of genetic testing in the screening, diagnosis, and management of patients affected by heterozygous or homozygous FH and to identify related health-care pathways.MethodsWe performed a systematic review of the literature; inclusion criteria were English or Italian guidelines focusing on genetic testing. The guidelines were included and evaluated for their content and development process using the Appraisal of Guidelines for Research and Evaluation II instrument.ResultsTen guidelines were considered eligible, and all were judged to be of good quality, with slight differences among them. The most common indications for performing genetic tests were high levels of cholesterol, or physical findings consistent with lipid disorder, in the subject or in the family history. Subsequent screening of family members was indicated when a mutation had been identified in the index patient. Regarding patient management, the various guidelines agreed that intensive treatment with lipid-lowering medications should begin as quickly as possible and that lifestyle modifications should be an integral part of the therapy.ConclusionSince the early detection of affected patients is beneficial for effective prevention of CVD, genetic testing is particularly useful for identifying family members via cascade screening and for distinguishing between heterozygous and homozygous individuals, the latter of which require more extreme therapeutic intervention.

show abstract

“…To ensure accurate genotype clustering each plate contained three controls for each genotype and for each SNP (90 controls total). For the Randox biochip array method (described in [ 4 ]) we followed the manufacturer’s instructions. Briefly, target DNA was amplified through allele specific, single-tube multiplex PCR, followed by spatial hybridisation onto a biochip array, conjugation and chemiluminescence detection using an Evidence Investigator analyser (Randox).…”

mentioning

confidence: 99%