Genetic factors play a crucial role in lipid metabolism and the development of hyperlipidemia.
GENOSOPHY®’s Genetic Test for Hyperlipidemia analyzes genes associated with hereditary dyslipidemias, providing valuable insights for diagnosis, risk assessment, and personalized management.
The Journal of the American College of Cardiology (JACC) recommends genetic testing for lipid disorders in affected individuals, those suspected of familial hypercholesterolemia, and their relatives.¹
Which Conditions Are Covered by GENOSOPHY®’s Hyperlipidemia Test?
This test detects genetic variants associated with:
- Familial Hypercholesterolemia (FH)
- Familial Combined Hyperlipidemia
- Hypertriglyceridemia
- Hypoalphalipoproteinemia (Low HDL)
- Lipid Metabolism Disorders linked to early atherosclerosis and cardiovascular disease
Who Should Consider Genetic Testing?
GENOSOPHY®’s Hyperlipidemia Genetic Test is recommended for:
- Individuals with severe hypercholesterolemia or hypertriglyceridemia, especially at a young age
- Patients with early-onset atherosclerosis or coronary artery disease
- People with a family history of dyslipidemia
- Patients with statin intolerance or insufficient response to lipid-lowering therapies
- Individuals with suspected monogenic dyslipidemias
Clinical Benefits of GENOSOPHY®’s Hyperlipidemia Genetic Testing
Diagnosis
- Detection of pathogenic genetic variants associated with hereditary dyslipidemias
- Distinction between monogenic and polygenic hyperlipidemia
- Support for early diagnosis and intervention in high-risk individuals
Prognosis
- Long-term cardiovascular risk assessment
- Enhanced risk stratification to support personalized clinical decisions
Management
- Guidance on individualized lipid-lowering therapy, including statins, PCSK9 inhibitors, and fibrates
- Cascade genetic screening for identifying at-risk family members
- Genetically-informed lifestyle and dietary recommendations
Testing Procedure
The process is simple and includes:
- Blood or saliva sample collection
- Next Generation Sequencing (NGS) of genes related to hyperlipidemia
- Results delivered within ~5 weeks
Genetic counseling and expert interpretation of results is also available through faculty members of the Medical School of the National and Kapodistrian University of Athens (NKUA).
Genes Included in the Panel
ABCA1, ABCG5, ABCG8, ALMS1*, APOA1, APOA5, APOB, APOC2, APOC3, APOE, CREB3L3, CYP27A1, GPD1, GPIHBP1, LDLR, LDLRAP1, LIPA, LMF1, LPL, PCSK9
Note: In addition to complete exon sequencing, the genetic test analyzes dozens of variants in non-coding regions such as promoters and introns.
The detection sensitivity for single nucleotide variants (SNVs), small insertions/deletions (indels), and copy number variants (CNVs) is >99%.
Sensitivity may be slightly reduced for genes marked with an asterisk (*).
¹ Reference:
Sturm AC et al., J Am Coll Cardiol, 2018 Aug 7;72(6):662–680.
DOI: 10.1016/j.jacc.2018.05.044
