Hyperlipidemia

Hyperlipidemia, also called: hyperlipoproteinemia, is related to hyperalphalipoproteinemia and hypertriglyceridemia, and has symptoms including autosomal dominant inheritance, xanthelasma and myocardial infarction. 

73.5 million adults (31.7%) in the United States have high low-density lipoprotein (LDL), or “bad,” cholesterol.

1 out of every 3 adults (29.5%) with high LDL cholesterol has the condition under control.  Less than half (48.1%) of adults with high LDL cholesterol are getting treatment to lower their levels.

Nearly 31 million adult Americans have a total cholesterol level greater than 240 mg/dL.

People with high total cholesterol have approximately twice the risk for heart disease as people with ideal levels, and also frequently associated with Coronary Artery Disease (CAD) and/or Ischemic Heart Disease (IHD).

 

 

Causes Of Hyperlipidemia

The causes of hyperlipidemia are either genetic (familial or primary hyperlipidemia) or from a poor diet and other specific factors (secondary hyperlipidemia).  A mutated gene passed down from either the mother or father causes a missing or malfunctioning LDL receptor.  LDL accumulates to dangerous amounts in the blood.  1 in 500 people worldwide has familial hyperlipidemia.  Certain ethnic groups such as French Canadians, Christian Lebanese, South African, Afrikaners, and Ashkenazi Jews are at a higher risk of hereditary hyperlipidemia.

Otogenetics Familial Hyperlipidemia Gene Testing is a next generation sequencing (NGS) panel that simultaneously analyzes 22 genes associated with increased risks for genetic analysis of subjects with virtually any type of inherited hypercholesterolemia and other lipid and lipoprotein metabolism disorders.  All classical familial hypercholesterolemia (FH) genes as well as genes associated with other hyperlipidemias such as ‘type 3 hyperlipidemia’ (APOE), sitosterolemia (ABCG5, ABCG8), lipoprotein lipase deficiency (LPL) High blood triglycerides (APOA5) and apolipoprotein-C deficiencies (APOC2, APOC3) are included in the analysis.  One or more of the genes covered in the Panel have also been associated with atherosclerosis, cholesteryl ester storage disease, hyperlipoproteinemia, hypertriglyceridemia, Niemann-Pick disease, sitosterolemia, Tangier disease, Wolman disease.

 

 

22 Genes Sampled

ABCA1, ABCG1, ABCG5, ABCG8, APOB, APOC2, APOC3, APOE4,APOA1, APOA4, APOA5, APOC4

CETP, LCAT, LDLR, LIPA, LIPC, LPA, LPL, PNPC1, PCSK9

 

 

Methodology

The Familial Hyperlipidemia Gene Testing is performed by high throughput next generation sequencing; using Otogenetics’ targeted enrichment systems.

 

 

Reporting Results

Each Otogenetics Familial Hyperlipidemia NGS Gene Testing report includes a custom bioinformatic analysis specifically made for each project.

 

 

  • 2-5 ml whole blood in EDTA or citric collection tubes
  • Saliva in saliva collection kit
  • Genomic DNA