G6PD Deficiency

fluo

The NEONATAL G-6-PD Screening Fluo is an enzymatic assay designed for the precise quantitative measurement of G-6-PD activity, aiding in the detection of G-6-PD deficiency. This assay is specifically optimized for neonatal samples collected on dried blood spots using 903® or 226 filter paper.

This assay is dedicated to professional use in diagnostic laboratories. The device is not for self-testing.

Glucose-6-phosphate dehydrogenase (G6PD) extracted from newborn samples catalyzes the oxidation of glucose-6-phosphate to 6-phosphogluconate and induces the formation of NADPH. NADPH emits a fluorescent signal that is proportional to the enzymatic activity of G6PD.

General information

Format: 288 – 576 determinations
Storage: At 2-8°C
Possible automation: Yes
Turn around time: Less than 1 hour

Associated Publications

Establishment of a sustainable newborn TSH-screening program in the People's Democratic Republic of Laos: https://pubmed.ncbi.nlm.nih.gov/33440296/

Neonatal Screening for Congenital Hypothyroidism through Dried Blood Spots: A Cross-sectional Study: https://doi.org/10.7860/JCDR/2023/65497.18618

Test principle

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzyme disorder diagnosed, affecting more than 400 million people worldwide.

G6PD catalyzes the first shunt step of monophosphate hexoses, oxidizing glucose-6-phosphate in 6-phosphogluconolactone and reducing NADP to NADPH. This metabolic pathway is the only erythrocyte source of NADPH, an important cofactor in glutathione metabolism and whose primary function is to protect red blood cells from oxidative damage caused by binding between hemoglobin and oxygen.

In individuals with a glucose-6-phosphate dehydrogenase deficiency diagnosis, G6PD will therefore lead to a decrease in the concentration of antioxidant agents (NADPH and glutathione) within red blood cells. This leads to excessive oxidation of hemoglobin and other proteins, leading to loss of function and cell lysis.

The clinical spectrum of glucose-6-phosphate dehydrogenase deficiency is broad. The severity of the disease and the probability of developing neonatal jaundice or chronic hemolysis, as well as the extent of hemolysis when hemolytic episodes occur, depend on the degree of enzyme deficiency. Patients are most often asymptomatic, but many individuals may experience episodes of episodic anemia. A few have chronic hemolytic anemia.

Screening is based on a measurement of glucose-6-phosphate dehydrogenase activity on dried blood spots.