G6PD Quantitative, EDTA Whole Blood

Glucose-6-phosphate dehydrogenase (G6PD) enzyme test is used to screen for and diagnose G6PD deficiencies. Glucose-6-phosphate dehydrogenase (G6PD) enzyme test is done when there is persistent newborn jaundice, when there are symptoms of hemolytic anemia which may be triggered by an infection or certain drugs. G6PD is an enzyme found in all cells, including red blood cells (RBCs). Glucose-6-phosphate dehydrogenase (G6PD) acts as an antioxidant and protects cells (RBCs) from certain toxic by-products of cellular metabolism. Hence deficiency of G6PD causes hemolysis of RBCs under certain conditions. Glucose-6-phosphate dehydrogenase (G6PD) enzyme test is done in people of any age who have had unexplained episodes of hemolytic anemia, jaundice, or dark urine to establish a confirm diagnosis. It is also done in people with haemolytic episodes due to a recent viral or bacterial illness, or exposure to triggers like fava beans, a 'sulfa' drug, or naphthalene, etc. Repeat Glucose-6-phosphate dehydrogenase (G6PD) enzyme test may sometimes be done to confirm the initial findings. Screening tests for Glucose-6-phosphate dehydrogenase (G6PD) enzyme test involve a simple qualitative test. Confirmation testing needs a quantitative test, where the levels of Glucose-6-phosphate dehydrogenase (G6PD) enzyme are measured. Genetic testing is not routinely done to diagnose Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency but can be ordered as follow up test to determine which G6PD mutation(s) are present.

1. Why is the G6PD test important?

Glucose-6-phosphate dehydrogenase (G6PD) enzyme test is important to educate a person with Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency, its triggering factors and the measures required to lead a normal life.

2. What are the other tests required in G6PD deficiency?

Screening tests for Glucose-6-phosphate dehydrogenase (G6PD) enzyme test involve a simple qualitative test. Confirmation testing needs a quantitative test, where the levels of Glucose-6-phosphate dehydrogenase (G6PD) enzyme are measured. Genetic testing is not routinely done to diagnose Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency but can be ordered as follow up test to determine which G6PD mutation (s) are present.

3. Is it important to determine which mutation of G6PD is present in a person?

Usually not required, but it may help in detecting the mutation in other family members.

4. Does an asymptomatic person need to tell his doctor about his G6PD deficiency?

Yes, prior intimation about G6PD deficiency is important as it will affect the future medical procedures and treatment options.