Genetic Analysis

Genetic analysis is a term used to describe the study of a sample of DNA to look at differences, or variants, that may increase an individual's risk for disease or impact drug responses.

While some genetic diseases, like Huntington's disease, are due to single gene changes, most inherited diseases arise from a number of genetic changes that can be compounded by environmental factors, making it difficult for researchers to track down all the related factors.

Although any two people are 99.9% identical at the genetic level, the 0.1 percent difference may help explain why one person is more susceptible to a specific disease than another person. Studying patterns of genetic variation can help scientists determine which differences are disease-related.

The human body is composed of billions of cells, each containing deoxyribonucleic acid (DNA) which encodes the basic instructions for cellular function. The complete set of an organism's DNA is called its genome.

The human genome is organized into 23 pairs of chromosomes which are further divided into over 30,000 smaller regions called genes. Each gene is comprised of a string of nucleotide bases labeled A, C, G and T. Human DNA has approximately 3 billion nucleotide bases and their precise order is known as the DNA sequence.

When a gene is "expressed," a partial copy of its DNA sequence—called messenger RNA (ribonucleic acid) or mRNA—is used as a template to direct the synthesis of a protein.

Proteins, in turn, direct all cellular function.