This quick test is done in the first few minutes of a baby's life and can help determine whether your newborn needs any medical help.

Adding genomic sequencing to the standard newborn screening heel-prick test is changing how we diagnose kids with genetic ...

Newsweek spoke to two-year-old Harper's parents who were dismissed eight times before receiving the correct diagnosis.

New research by UCLA Health has found a simple blood test could provide faster and more accurate diagnosis of ALS by ...

The Human Genome Project, launched in 1990 and completed in 2003, also moved the needle. Scientists had successfully ...

NHS announces new test to be offered for all newborn babies - Hereditary tyrosinaemia type 1 (HT1) affects around seven UK ...