When a baby is born in the United States, a few drops of blood are taken from their heel to test for many conditions that could affect the child’s long-term health or survival. This testing is part of ...

The phenylketonuria (PKU) test is a diagnostic tool used to test infants for phenylketonuria a few days after birth. PKU is an autosomal recessive inborn error of ...

The Utah Newborn Screening Program tests all newborns in Utah for over 40 medical conditions that can affect their growth, development, and long-term health. While many people associate newborn ...

Robert Guthrie, a UB faculty member and physician at the John R. Oishei Children’s Hospital from 1958-86, developed the blood spot test to screen for the genetic disorder called phenylketonuria (PKU) ...

The Minnesota Department of Health has finished destroying thousands of newborn blood-spot samples after a legal challenge forced the action. The Citizens' Council for Health Freedom, a Minnesota ...

Today, the GUARDIAN study is moving newborn screening to genomic sequencing, potentially detecting hundreds of conditions before symptoms even appear. But can this cutting-edge technology replace ...

Newborn screening, which represents one of the major advances in child health of the past century, has been carried out in all fifty U.S. states since the 1970s. New-born screening programs are ...

The earlier diseases are diagnosed, the earlier they can be treated. Unfortunately, time is often of the essence for those with rare genetic disorders. For example, the few therapies that exist for ...

The test that changed infant health in America began half a century ago with a microbiologist whose son was born disabled. Robert Guthrie, of the University of Buffalo, never learned the cause of his ...

Within a few days after birth, babies around the world undergo a quick needle prick to the heel. The blood drop that results is used to detect as many as 50 genetic disorders so that, if found, they ...