A genome is an organism’s complete set of DNA instructions found in a cell. In humans, the genome consists of 23 pairs of chromosomes located in the cell’s nucleus. A genome contains all the information needed for an individual to develop and function.

The genes are the basic units of information in the genome, if they present alterations, a system in the organism may be affected increasing the risk of disease. Screening for those alterations can help to prevent the diseases or reduce their impact on the mom’s or baby’s health. 

We analyze over 400 genes related with childhood onset genetic and metabolic diseases, adult onset diseases that are actionable during childhood, and common, although not treatable, diseases with carrier frequency higher than 1/100. Screening includes diabetes, early cardiovascular disease, certain food allergies, Usher syndrome, malignant hyperthermia, cystic fibrosis, and more.