Medical Glossary

Allele - A version of a gene.

Chromosome - Physical structure consisting of a large DNA molecule organized into genes and supported by protein.

CLIA - Clinical Laboratory Improvement Amendments passed in 1988 by Congress to establish quality standards for all laboratory testing.

DNA - A nucleic acid that contains the genetic instructions used in the development and functioning of all known living organisms and some viruses.

Gene - The basic physical unit which provides all heredity character.

Genotype - The genetic constitution of an organism.

Gene Sequencing - Process by which the nucleotide sequence is determined for a segment of DNA.

Genetic Variants - An alteration in a gene distinct from the normal, wild type allele.

Phenotype - The observable physical and/or biochemical characteristics of the expression of a gene: the clinical presentation of an individual with a particular genotype.

Polymorphism - Natural variations in a gene, DNA sequence, protein, or chromosome that occur with fairly high frequency in the general population.

SNP - (pronounced "snip") Single nucleotide polymorphism.