Newborn Screening

What is newborn screening and how it can help your newborn?

Having a new baby is one of the most exciting times in a parent’s life. However a small percentage of babies suffer from rare genetic conditions that could be life-threatening. There are a number of devastating diseases that are often present during the newborn time but are often difficult to identify right after birth. Sometimes when the disease is finally identified it is often too late. The purpose of newborn screening is to help identify some of these devastating diseases before they can do harm to the baby. Newborn screening is meant to identify a problem early on so the baby can have a chance to lead a normal and productive life.


One example of a disorder that is part of newborn screening is phenylketonuria (PKU). PKU is a condition where the body is unable to breakdown the building blocks (an amino acid) of a protein. If the amino acid builds up in the body it can cause problems with the central nervous system and cause brain damage that can lead to mental retardation. If PKU is discovered early on with newborn screening, your doctor can treat your child with a low protein diet and special medical foods. In most cases of PKU, the baby can grow up and enjoy a normal life.


PerkinElmer Genetics offers the comprehensive newborn screening in the world. We screen for over 50 different disorders. We also offer the latest genetic testing to confirm the results from the primary screen.

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