Through preconception genetic profiling, it is possible to identify whether prospective parents are carriers of hereditary diseases, such as cystic fibrosis or sickle cell anemia, and thus make informed decisions about family planning. In addition, fertility tests allow for the evaluation of both female and male reproductive health by analyzing hormones, sperm quality, and possible genetic alterations that may influence conception.

Once the baby is born, newborn screening is a key tool for the early detection of metabolic, endocrine, and genetic diseases that can be treated in time.