Newborn screening (NBS) is routinely performed across the world using biochemical testing methods. Recent advancements in genetic sequencing are a potential game-changer for newborn screening, swiftly ...

Tests that look at changes in biochemistry have an important application in medicine, including point-of-care cardiac testing and monitoring heart failure. Biochemical tests can also be used to ...

This Journal feature begins with a case vignette highlighting a common clinical problem. Evidence supporting various strategies is then presented, followed by a review of formal guidelines, when they ...

Genetic testing is a minimally invasive medical test that doctors use to identify genetic mutations or variants that can lead to certain diseases or conditions. Doctors use various types of genetic ...

We are at a critical time and supporting science journalism is more important than ever. Science News and our parent organization, the Society for Science, need your help to strengthen scientific ...

A new study finding that samples from maternal urine and the meconium of their newborn babies frequently produce different results is raising more questions about drug testing of pregnant women. The ...

Pheochromocytoma fascinates and, at times, confounds clinicians. The symptoms due to hypersecretion of catecholamines can mimic more than 30 medical disorders. 1 This rare tumor can be lethal if left ...

The Medical Biochemical Genetics fellowship is a one year training experience that provides an integrated approach to the diagnosis and management of patients with inborn errors of metabolism. The ...