Development of Pediatric G6PD Reference Intervals Through Integration of Indirect Methods and Molecular Data

Course overview

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. After this presentation, participants will be able to: - Describe the clinical significance of G6PD deficiency in pediatric populations - List the challenges in establishing pediatric reference intervals for G6PD - Detail the principles and advantages of indirect statistical modeling for reference interval development