Connect Sign InDevelopment of Pediatric G6PD Reference Intervals Through Integration of Indirect Methods and Molecular Data
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common genetic enzyme disorders worldwide, with significant implications for pediatric patients. Establishing age-appropriate reference intervals for accurate diagnosis in children is challenging due to the difficulty of obtaining samples from healthy pediatric populations.
This presentation will explore how ARUP Laboratories has leveraged indirect statistical modeling and integrated molecular data to establish robust, age-specific reference intervals for pediatric G6PD testing. This approach overcomes the limitations of traditional direct studies, enabling earlier and more precise identification of at-risk children. The clinical importance of G6PD, the principles of indirect reference interval development, and the impact of combining phenotype and genotype data to improve laboratory diagnostics will be discussed.
Originally published on December 17, 2025, in Salt Lake City, Utah.
Dr. Kelly Doyle is a medical director of special chemistry, endocrinology, and mass spectrometry at ARUP Laboratories and an associate professor (clinical) at the University of Utah School of Medicine. Dr. Doyle received his doctorate degree in medicinal chemistry from the University of Utah. He then completed a clinical chemistry fellowship at the University of Utah School of Medicine and an oncological sciences fellowship at the Huntsman Cancer Institute. Dr. Doyle is board certified and a member of the Association for Diagnostics & Laboratory Medicine. His research interests include clinical application and implementation of mass spectrometry, emerging biomarkers, endocrinology, and laboratory best practices.
