Carrier Screening Report

Carrier ScreeningPathologies with recessive transmission, in order to manifest themselves, require that both copies of the gene (one of maternal origin and one of paternal origin) are mutated. The carriers of a single mutated gene are asymptomatic subjects unaware of having it. If, however, both subjects of the couple are carriers of the same mutated gene, there is a 25% chance, with each pregnancy, that a sick child will be born. Carrier screening is therefore an important tool for knowing one's carrier status.More than 100 genes analyzed It is recommended if: This report is particularly suitable for couples who are planning a pregnancy and who want to have information on their possible carrier status. This awareness, in the event that both members of the couple have mutations on the same gene, facilitates the informed decision-making process, planning the best possible interventions and management strategies of a hypothetical pathological status transmitted to the offspring. List of