Analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.
The analysis of human deoxyribonucleic acid (DNA), ribonucleic acid (RNA), chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotypes, mutations, or phenotypes for clinical purposes. Such purposes include predicting risk of disease, identifying carriers, and establishing prenatal and clinical diagnosis or prognosis. Prenatal, newborn, and carrier screening, as well as testing in high-risk families, are included.
Procedure used to investigate the pattern of human genes to determine the likelihood of disease development.