The expanded metabolic screening enables the early detection of rare genetic diseases, before they can cause serious harm to the baby. These rare, mainly metabolic, genetic disorders occur in the first days after birth, but are not easily diagnosed; the rather generic symptoms are often confused with those of more common diseases.
Many countries around the world have initiated mandatory neonatal screening programs for metabolic diseases. By enabling their early diagnosis, neonatal metabolic screening allows for effective therapy establishment before serious damage to the baby, especially at the neurological level.
Bioscience Institute provides the StepOne® Expanded Neonatal Screening service, which allows for investigating the presence of over 50 disorders.