Screening examinations have been performed for 50 years to detect rare congenital disorders in metabolism and hormone balance. Unrecognised and untreated, they can lead to organ damage, physical or mental disability. 1: 1200 newborns shows such a rare disease.
In special screening laboratories, the blood collected from the heel in the first 36-72 hours after birth, is tested. The screening result is not yet a medical diagnosis. If suspected, further diagnostic or confirmation analyses are required.
Amino Acids and Acylcarnitines, Non-Derivatised
