Piero Rinaldo, MD, PhDNewborn 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.
Piero Rinaldo, MD, PhD, co-director of the Biochemical Genetics Laboratory, professor of laboratory medicine and pathology and T. Denny Sanford professor of pediatrics at Mayo Clinic Rochester, Minn, presents, The Region 4 Stork (R4S) Collaborative Project, Part 2: First Generation Productivity Tools.
To watch or read the presentation, visit the Mayo Hot Topic.
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Click here for more on Part 1.
[Source: Mayo Medical Laboratories]
