Newborn screening test developed for rare, deadly neurological disorder

Soon after birth, a baby’s blood is sampled and tested for a number of rare inherited conditions, such as cystic fibrosis and sickle cell anemia. A new study describes a novel newborn screening test for a progressive neurodegenerative disease, called Niemann-Pick type C (NPC), that typically is not diagnosed until at least age 2, after neurological symptoms have begun to develop.