Cardiomyopathies, heart diseases are the leading cause of death in the United States

Several variations of cardiomyopathy exist; many of them being hereditary

The types of cardiomyopathy that exist are known to exist are:

  • Dilated cardiomyopathy (DCM),
  • Hypertrophic cardiomyopathy (HCM)
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C)



 Prevalence Of Gene Mutations In Familial Cardiomyopathy

Familial (or inherited) hypertrophic cardiomyopathy affects an estimated 1 in 500 people worldwide. It is the most common genetic heart disease in the United States.  Mutations in two genes, MYH7 and MYBPC3, account for ~70-80% of the cases of familial hypertrophic cardiomyopathy.  Mutations in 4 other genes, TNNI3TNNT2TPM1, and MYL3, account for >10% of the cases of familial hypertrophic cardiomyopathy.

It is estimated that 750,000 people in the United States have dilated cardiomyopathy; roughly half of these cases are familial. Mutations in 30 genes have been found to cause dilated cardiomyopathy or DCM.

Many other genes contribute to familial cardiomyopathy.  Comprehensive genetic testing such as the Gx™ Cardiomyopathy Gene Panel is necessary to identify the underlying genetic cause(s).



 Genetic Testing Provides

  • Diagnosis of clinical condition
  • Guidance for disease prognosis
  • Identification of at-risk family members
  • Implications for therapeutic drugs



Otogenetics Cardiomyopathy Gene Testing

The Gx™ Cardiomypopathy Gene Testing sequences 44 genes associated with susceptibility to cardiomypathies of various types




Option To Test For Novel Cardiomyopathy Genes

The genetic causes for some cardiomyopathy patients remain unknown.  Novel genetic causes for cardiomyopathy may be identified by a more comprehensive genetic test.  To examine more genes for the diagnosis of novel genetic causes of rare diseases including cardiomyopathy, please click here to view our clinical whole exome sequencing test.



Reporting Options To Fit Your Needs

We offer the expertise to help you get what you need.  Our options include:

  • Diagnostic Report for patient specific diagnosis
  • Bioinformatics Analysis Report for researchers looking for variants based on published literature



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.




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.




22 Genes Sampled