What type of testing identifies genetic disorders shortly after birth?

Newborn screening is a crucial public health tool that identifies potential genetic disorders in infants shortly after birth. This type of testing aims to detect conditions that, if left untreated, could lead to significant health problems or developmental issues. The screening typically uses a small blood sample from the newborn, which is analyzed for specific metabolic or genetic disorders.

Early detection through newborn screening allows for timely intervention, which can include medical management or treatment strategies that might prevent serious health consequences. For instance, disorders such as phenylketonuria (PKU) or congenital hypothyroidism can be managed effectively if identified early.

In contrast, diagnostic testing is used to confirm or rule out a known genetic disorder, often based on symptoms that have already appeared. Carrier testing helps individuals understand if they carry a gene for a recessive disorder, primarily for family planning purposes. Predictive testing provides information about the likelihood of developing a disease later in life, often in cases where the disease has a genetic component. Each of these types plays a distinct role in genetic counseling and healthcare, but newborn screening specifically focuses on detecting conditions at the earliest stage, immediately after birth.