Glossary

A formula or equation derived from intensive biostatistical analysis, which, when applied to a measurement of genomic marker (e.g. gene expression) across a select set of genes, provides a score which can assess risk for the presence of a current or future disease state.

One member of a pair of different forms of a gene. In humans, one allele is passed down from each parent. A “wild type” allele is an allele which is considered to be "normal". A “mutant” allele is an uncommon allele (less than 1% of the population). A “polymorphic” allele is one which is not the most common but which occurs in at least 5% of the population.

Chest pain, characterized by tightness, radiating pain or discomfort resulting from a lack of blood flow to the heart muscle; a common symptom of coronary artery disease.

An invasive procedure using X-ray imaging technology and a contrast agent to visualize the interior lumen of the blood vessels of the heart. This examination is currently considered the gold standard in diagnosing coronary artery disease and is performed in the cardiac catheterization lab.

Any irregularity in heartbeat, including tachycardia, bradycardia, and fibrillation.

A form of arteriosclerosis characterized by accumulation of lipoproteins, cellular products, calcium and other substances in the inner lining of an artery.

The analysis of biological data using advanced computational and statistical techniques.

An invasive procedure used to examine the heart and diagnose the presence and extent of coronary artery disease.

Cardiomyopathy is a serious disease in which the heart muscle becomes inflamed and doesn't work as well as it should. There may be multiple causes including viral infections.

Congress passed the Clinical Laboratory Improvement Amendments (CLIA) in 1988 establishing quality standards for all laboratory testing to ensure the accuracy, reliability and timeliness of patient test results regardless of where the test was performed.  All CardioDx tests are processed in a CLIA-licensed laboratory.

A copy of a messenger RNA produced by the enzyme reverse transcriptase.

Research studies designed to answer specific questions regarding safety or efficacy of emerging tests or therapeutics or new applications of known tests or therapeutics.

Disease caused by atherosclerotic luminal narrowing of the coronary arteries leading to the heart that limits the supply of blood to the heart.

The nucleic acid that encodes genetic information. It consists of two long chains of nucleotides twisted in a double helix and joined by hydrogen bonds between complementary base pairs.

Food and Drug Administration. The body of government, established in the Federal Food and Drug Act of 1906, responsible for the oversight of food, drugs, dietary supplements, medical devices, biological goods and blood products, as well as cosmetics and animal nutrition.

Sometimes referred to as transcriptomics. The process by which genetic information from DNA is made into a functional gene product through transcription into mRNA and translation into protein.

The specific gene expression pattern from a set of genes within an individual.

An ordered sequence of nucleotides that is located in a particular position and on a particular chromosome. Arranged in a linear manner, genes contain information to make specific proteins, which then encode specific traits or functions.

A test used in a population or group to identify a subgroup of individuals who may have a disproportionately high risk of having or transmitting a specific genetic disorder.

The study or process by which a segment of DNA is analyzed to determine the nucleotide sequence within the segment.

The scientific study of inheritance, as it relates to heritable traits, diseases, and other characteristics.

The complete hereditary information for a particular organism that is encoded in DNA.

Empirical clinical study approach that incorporates the entire genome with the goal to identify SNPs uniquely present in patients with disease (cases) relative to those without disease (controls).

The study of the entire genetic makeup of an individual (their genome) coupled with the interaction of those genes with each other and with the individual’s environment.

 Use of biological assays (e.g. PCR, DNA sequencing) to determine the genotype (the specific combination of alleles) of an individual.

A structural problem or functional impairment that limits the ability of the heart to pump effectively and provide adequate blood flow to the body and organs, resulting in edema, dyspnea and lung congestion.

An international scientific project (1990 -2003) that successfully culminated in the sequencing of the first entire human genome and the identification of its approximately 25,000 genes.

A restriction of blood flow, and therefore oxygen, to any area of the body. Cardiac ischemia specifically relates to the restriction of blood to the myocardial wall of the heart.

The product of transcription of a gene.

A high throughput technology that enables the detection of gene expression levels or the detection of SNPs within the genome.

Commonly referred as heart attack, Myocardial Infarction is an irreversible damage of cells in the myocardium due to restricted blood flow.

The basic unit for DNA and RNA, consisting of a nitrogenous base, a phosphate group, and a sugar.

An accumulation of substances such as lipoproteins, cellular products, and calcium in the inner lining of an artery.

A technique used in molecular biology to amplify a specific region of the genome with an enzymatic reaction.

Presence of more than one allele in a given population.

Large complex molecules made up from amino acids that are essential to biological function.

The study of the complete complement of the function and structure of proteins within an organism.

A technology used to quantify DNA sequences (determine the amount of cDNA in a sample). This technique is useful in determining the presence and amount of a single, specific sequence within a sample of DNA.

Ribonucleic acid. Nucleic acids that contain sugar, uracil, and ribose. RNA is responsible for regulating gene expression and the synthesis of proteins.

Single Nucleotide Polymorphism (“snip”). A variation of a single nucleotide in the human genome.

A luminal narrowing within any tubular structure. In cardiovascular disease, this is specifically related to the narrowing of an artery or, less often, a vein. Arterial stenosis due to atherosclerotic disease can result in the obstruction of blood flow.

The sudden, abrupt loss of heart function typically caused by rapid, irregular ventricle rhythms, either ventricular fibrillation (VF) or ventricular tachycardia (VT). The quivering ventricles are unable to pump blood to the body, and the condition is lethal 95% of the times if not treated in time (i.e. sudden cardiac death). 

Death as a result of an unattended sudden cardiac arrest (SCA) event. SCA is the abrupt loss of heart function, usually due to ventricular fibrillation (VF) or ventricular tachycardia (VT).