Dyslipidaemia Panel (includes Familial Hypercholesterolaemia)

Cardiology

Dyslipidaemia Panel (includes Familial Hypercholesterolaemia)

Overview

Test Name
Dyslipidaemia Panel (includes Familial Hypercholesterolaemia)
Test Code
CAE1009
Test Category
Gene Panels
Test Subcategory
Cardiology
Disease(s) Targeted
Dyslipidaemia (includes Familial Hypercholesterolaemia)
Who Is The Test For?
Patients with a family history, clinical suspicion, or diagnosis of Dyslipidaemia (including Familial Hypercholesterolaemia)
Test Approach

Whole exome sequencing (WES) with in silico gene panel analysis

No. of Genes
20
Panel Content
ABCA1, ABCG5, ABCG8, ALMS1, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CREB3L3, CYP27A1, GPD1, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9
Mitochondrial Genome Included In The Analysis
No
Deliverables
Turnaround Time

~3-6 weeks*

Specimen Requirements

For detailed information about the sample requirements, please consult our clinical sample requirements page.

*Turnaround times are estimated from receipt of satisfactory specimen and test request form at the laboratory to release of clinical report. The turnaround time may vary depending on the nature of the specimen and the complexity of the investigation required. The above table is only a guideline and the complexity of a case and the requirement for further investigations may change this.

About Dyslipidaemia

Dyslipidaemia refers to an abnormal level of lipids (fats) in the blood, including cholesterol and triglycerides. It is a key risk factor for cardiovascular diseases (CVD), such as coronary artery disease (CAD), stroke, and peripheral artery disease (PAD).

Familial hypercholesterolemia is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction.

Individuals with a more severe phenotype, often as a result of biallelic variants, can present with very significant elevations in LDL-C (>500 mg/dL), early-onset coronary artery disease (CAD; presenting as early as childhood in some), and calcific aortic valve disease. 

Familial Hypercholesterolaemia is attributed to pathogenic variants in LDLR gene in around 50% of the cases and APOB gene in around 10% of the cases. 


Gene Panel Workflow

Order a test using our clinical portal

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