A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days. A groundbreaking blood test promises to transform ...

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children’s Research Institute (MCRI) have developed a groundbreaking rapid blood test that can ...

A new, rapid testing method will greatly help the diagnosis of rare diseases in babies and children, according to research to be presented to the annual conference of the European Society of Human ...

Texas added four lysosomal disease tests to its newborn screening, increasing the total conditions screened to 59.

A positive pregnancy test in men, though rare, demands immediate medical attention. While it may seem humorous, elevated ...

Each year, 500 to 1,000 people in the United States are diagnosed with pulmonary arterial hypertension (PAH), a rare lung ...