Genetic Testing

The foundation of genetic material in all living organisms is found within a molecule called deoxyribonucleic acid, or DNA. Often referred to as the genetic code, DNA is comprised of four bases: adenine (A), cytosine (C), guanine (G), and thymine (T). Collectively, the content of the genetic code within each organism is referred to as the genome. Within the human genome over 99% of this code is identical among individuals. It is the alterations in the remaining <1% that account for all of the diversity in characteristics like height, eye color, memory or intelligence to name a few.

The basic functional unit of inherited traits is the gene. Made up of DNA, genes vary in size from several hundred to millions of bases. The human genome contains roughly 20,000 genes, each containing the information required to produce a specific protein. Each individual inherits two copies of every gene, one from their mother and the other from their father. When there are alterations of the DNA sequence of a particular gene, the different versions of the gene are referred to as alleles. Personal characteristics, such as hair and eye color, are determined by which specific allele they inherit.

Proteins, of varying size, are coded by our genes and play many critical roles. Found all throughout the tissues and organ systems in the body, they are integral to maintaining physiological structure and function. Proteins differ dramatically in size and conformation, yet they are all made up of the same 20 amino acids. These amino acids are linked together in chains that are ultimately folded together to form the 3-D shape of the protein. Consequently, the order and number of amino acids in these chains determines the form and function of each protein.

Enzymes are a very specialized type of protein. They facilitate almost all of the thousands of chemical reactions that take place in cells. Often if there is a problem with the structure of an enzyme, the result is some form of disease.