Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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Newborn Screening

Newborn screening serves as a public health prevention measure for the early detection and quality-assured treatment of newborns with certain treatable endocrine and metabolic diseases. The genetic diagnosis can provide confirmation of diagnosis made from the findings of the screening test. Since due to the screening result, the affected enzyme is already known, the relevant genes are selectively studied.