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Pediatric Glucose-6-Phosphate Dehydrogenase Reference Intervals Derived from Archived Phenotype and Genotype Test

Kwaku Baryeh1, Kelly Doyle2,3

  • 1Laboratory for Experimental Medicine, Eli Lilly and Company, Indianapolis, IN, United States.

The Journal of Applied Laboratory Medicine
|June 4, 2026
PubMed

Insights

Establishing pediatric reference intervals for Glucose-6-phosphate dehydrogenase (G6PD) activity is crucial for diagnosis. Indirect methods using real-world data accurately determined these G6PD reference intervals and thresholds, aligning well with genetic classifications.

Area of Science:

  • Clinical Chemistry
  • Pediatric Diagnostics
  • Genetics

Background:

  • Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common global enzymopathy.
  • G6PD activity declines with age, necessitating age-specific reference intervals (RIs) for pediatric diagnosis.
  • Establishing pediatric RIs is challenging due to difficulties in direct sample collection.

Purpose of the Study:

  • To establish accurate, age-partitioned reference intervals (RIs) for G6PD activity in children.
  • To develop percentage of normal activity thresholds (PNATs) for G6PD assessment in pediatric populations.
  • To validate indirect RI methods using real-world data and genotype correlations.

Main Methods:

  • Utilized a large dataset of G6PD activity results from pediatric patients (<18 years).
  • Employed the refineR package with Box-Cox transformation to derive RIs and medians for PNATs.
  • Validated RIs and PNATs by correlating with G6PD genotype data.

Main Results:

  • Established age-partitioned RIs for G6PD activity across five pediatric age groups.
  • Demonstrated strong agreement (96% for RIs, 93% for PNATs) between derived values and genotype classifications.
  • The dataset comprised 32,576 G6PD activity results.

Conclusions:

  • Indirectly derived pediatric reference intervals for G6PD activity are accurate.
  • These RIs and PNATs align effectively with G6PD genotype classifications in children.
  • The study validates the use of real-world, noncurated data for establishing pediatric diagnostic standards.
Abstract

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