Genome Screen Hyperlipidemia

• Test Code: ON088

Test Description

Hyperlipidemia Genome Screen is a cutting-edge gene analysis test that examines genes associated with hyperlipidemia and incorporates research findings to provide personalized health information. Even if individuals with pathogenic variants (PV) linked to hereditary hyperlipidemia show no symptoms (reduced penetrance), they have a higher risk of developing hyperlipidemia compared to the general population. Hyperlipidemia, characterized by abnormal lipid levels in the blood, increases the risk of complications such as coronary artery disease and cerebrovascular disease. Major risk factors include obesity, diabetes, alcohol consumption, smoking, and genetic factors. Given its association with various cardiovascular diseases like atherosclerosis, hyperlipidemia requires a thorough evaluation beyond basic assessment. Hyperlipidemia Genome Screen utilizes NGS to analyze 31 genes associated with hereditary hyperlipidemia or dyslipidemia, enabling prevention, early diagnosis, and improved treatment outcomes.

Ordering information

• Turnaround time : 14 days
• Specimen : EDTA WB 3ml
• Method : NGS
• Required documents : Requisition form, Informed consent form

Assay information

• Test Disease : 11 major diseases (Screen 31 genes with high genetic penetration of 11 major diseases at once)
  • Hypercholesterolemia (familial hypercholesterolemia, cerebral tendon yellowoma, sitosterolemia, hyperalphalipoproteinemia, hyperalphalipoproteinemia), drug compatibility (statin side effects), lipoprotein deficiency (low-betalipoproteinemia, hypoalphalipidemia) Proteinemia), complex dyslipidemia (dyslipidemia, complex hyperlipidemia), hypertriglyceridemia, Side effects of LDL cholesterol, triglycerides, and hyperlipidemia drugs (statins)

Result

Limitations

• Genetic variation is divided into five categories, pathogenic variant (PV), likely pathogenic variant (LPV), variant of unknown significance (VUS), likely benign variant (LBV), and benign variant (BV), according to 2015 ACMG/AMP.
• The disease relevance of sequence variation according to 2015 ACMG/AMP guidelines is analyzed by a specialist in the department of laboratory medicine, combining various evidences such as allele frequency in population databases, frequency, function analysis and computer prediction, and papers and mutation databases. However, the interpretation of the variation could be changed as additional evidence builds up after the results are reported.
• In this test, it is a rule to report mainly pathogenic variant and likely pathogenic variant, which have high or very high disease relevance, and not to report variant of unknown significance, likely benign variant , and benign variant.
• The genes included in the test include the entire exon, but in some areas sequencing may not be sufficiently covered. In addition, if a highly homologous sequence exists, the sequencing of the base may not be accurate, and variations in large deletions or duplications or non-protein-coding sequence areas may be difficult to detect.
• Even if a pathogenic variant is found in disease-related genes, it does not guarantee a 100% occurrence of the disease. The timing and clinical manifestation of disease onset can vary among individuals.
• Even if no pathogenic variant associated with the disease is found, there is still a possibility of disease occurrence due to non-genetic factors such as environmental influences and lifestyle habits.

Verifying more specific details about the Test