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A novel point-of-care device for measuring glucose-6-phosphate dehydrogenase enzyme deficiency
Ronald J Wong1, Cynthia Montiel1, Megana Kunda1
1Department of Pediatrics, Division of Neonatal and Developmental Medicine, Stanford University School of Medicine, Stanford, CA, USA.
Insights
A new digital microfluidics device accurately measures glucose-6-phosphate dehydrogenase (G6PD) activity. This innovation enables early screening for G6PD deficiency in newborns, preventing bilirubin neurotoxicity.
Area of Science:
- Biochemistry
- Medical Diagnostics
- Newborn Screening
Background:
- Extreme hyperbilirubinemia poses a risk of bilirubin neurotoxicity.
- Infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency are susceptible to hemolysis and are at high risk.
- Accurate and early G6PD deficiency screening is crucial for preventing severe outcomes.
Purpose of the Study:
- To evaluate a novel digital microfluidics (DMF) device for quantitative kinetic measurement of G6PD activity.
- To assess the precision and reproducibility of the DMF device.
- To compare the performance of the DMF device against established reference methods for G6PD activity measurement.
Main Methods:
- The study assessed intra- and inter-instrument and -day imprecision (CVs) of the DMF device.
- G6PD activity was measured in 86 infant samples using the DMF device and two reference methods.
- Reproducibility was evaluated over 5 days with two operators on two instruments.
Main Results:
- The DMF device demonstrated excellent overall reproducibility (3.8% CV over 5 days).
- Mean intra- and inter-instrument variabilities were low (3.6% and 3.9%), with user variability at 4.3%.
- DMF measurements strongly correlated with reference methods (r=0.95) with minimal bias, indicating high accuracy.
Conclusions:
- The novel DMF device provides a reproducible and accurate method for quantifying G6PD activity.
- This technology holds significant potential for early newborn screening of G6PD deficiency.
- Early detection via this device can aid in preventing hemolytic crises and bilirubin neurotoxicity.
Abstract:
Extreme hyperbilirubinemia can cause bilirubin neurotoxicity. Infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency can develop hemolysis and thus are at high risk. We evaluated a device that quantitatively measures G6PD activity kinetically using digital microfluidics (DMF). Intra- and inter-instrument and -day imprecision (CVs) were first assessed. G6PD activity in 86 samples was then measured and compared between DMF and 2 reference methods. Overall DMF reproducibility was 3.8% over 5 days by 2 operators on 2 instruments. Mean intra- and inter-instrument variabilities were 3.6% and 3.9%, respectively (n = 28), with a user variability of 4.3%. Mean G6PD activity was 6.40±4.62 and 6.37±4.62 U/g hemoglobin for DMF and Reference Methods 1 (n = 46) and 12.15±3.86 and 11.48±1.55 for DMF and 2 (n = 40), respectively, and strongly correlated (r = 0.95 and 0.95) with mean biases of +0.04±2.90 and +0.67±1.55 for methods 1 and 2, respectively. The novel device could be used for early newborn G6PD screening.
