How is G6PD Deficiency Diagnosed? Tests You Should Know About
Published: Mar 04, 2024
Diagnosing G6PD deficiency involves specific tests that measure enzyme activity in red blood cells. Learn about these tests and when to get them.
Contents
Screening Tests
Initial screening for G6PD deficiency involves qualitative tests that measure the enzyme's activity. These tests are often the first step and can provide quick results. They work by detecting the reduction of NADP to NADPH, a key function of the G6PD enzyme. If a screening test is positive, further confirmatory testing is usually recommended.
Confirmatory Testing
Confirmatory tests involve a quantitative analysis of G6PD enzyme activity. These tests measure the exact amount of enzyme present in red blood cells. Results are expressed in units per gram of hemoglobin, providing a detailed view of enzyme levels. Confirmatory testing is essential for accurate diagnosis and guiding management decisions.

When to Test
Testing for G6PD deficiency is advised for individuals with unexplained anemia or newborns with jaundice. It is also important before administering certain medications that can cause oxidative stress. If someone experiences hemolytic symptoms, especially after taking certain drugs, testing should be considered.
Frequently Asked Questions
It's a quick test to detect G6PD enzyme activity.
To measure the exact enzyme levels for accurate diagnosis.
If you have unexplained anemia or need certain medications.
Yes, false-negatives can occur during acute hemolysis.
Testing is Key
Proper testing ensures accurate diagnosis and management of G6PD deficiency.
References
- Beutler E. Red cell metabolism. In: A Manual of Biochemical Methods, 3rd ed, Grune and Stratton, New York 1984.
- Doherty AN, Kring EA, Posey YF, Maisels MJ. Glucose-6-phosphate dehydrogenase activity levels in white newborn infants. J Pediatr 2014; 164:1416.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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