Laboratory Quality Assurance Project
Project Lead: Dr. Marzia Pasquali

This project will address the increased rate of false positives/false negatives due to failure to recognize patterns of abnormal metabolites and failure to adopt 2nd tier tests. Specifically, Dr. Pasquali will:

• Collect and exchange newborn blood spots from patients with confirmed metabolic disorders and from patients with abnormal metabolites due to iatrogenic effects;
• Provide an evaluation of results that will include information about the disease, why certain metabolites are abnormally elevated, urgency of follow-up; and
• Promote the use of second tier testing to reduce the number of false positive (and, in some cases, false negative) results.