Piero Rinaldo, MD, PhD

Newborn screening has been very successful in identifying newborns with classic syndromes.

However, many newborns have complex metabolic profiles that are difficult to interpret, leading to false-positives and missed diagnoses.

To improve detection of true-positives, the Regional Genetics Collaborative project, funded by the Health Resource and Service Administration, has created the Region 4 Collaborative Stork project, which uses Mayo-developed software for postanalytical interpretation of complex metabolic profiles.

The material is aimed at laboratorians, geneticists, and pediatricians.

Part 1: Laboratory Quality Improvement of Newborn Screening, introduces the concept of disease ranges for improved identification of abnormal newborn screening results.

Piero Rinaldo, MD, PhD, co-director of the Biochemical Genetics Laboratory, professor of laboratory medicine and pathology, and T. Denny Sanford, professor of pediatrics, Mayo Clinic, Rochester, Minn, are the presenters. 

Click here to watch or read the presentation.

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[Source: Mayo Medical Laboratories]