As of 2018, there is genetic testing available for G6PD deficiency. If you have symptoms and/or a family history of G6PD deficiency, a genetic counselor or a geneticist can usually order a genetic test for you. You can give blood or saliva, although there are other less commonly used samples that can be used to test your DNA. The sample is sent to be tested at a laboratory. The test will check to see if there are any changes (or mutations) in the G6PD gene that could cause it to not work properly. The genetic counselor will receive the results and explain to you what they mean in detail. It is possible that the testing will not detect a gene mutation.
Another way to test for G6PD deficiency is through an enzyme analysis. This analysis will require a blood sample. the laboratory will check the levels of the G6PD enzyme in the blood. If the levels are less than 60%, the individual may have G6PD deficiency. It is often followed by a genetic test.
If you would like to learn more about testing for G6PD deficiency, or have it in your family, speak to your doctor about a referral to see a geneticist or a genetic counselor. In the U.S., you can find a genetic counselor near you by using the Find a Genetic Counselor Tool on the National Society of Genetic Counselors website.
Other Questions About Glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Why does G6PD deficiency cause anemia?
- Who else in my family should have testing for G6PD deficiency?
- What type of sample should be taken for G6PD deficiency genetic testing?
- What treatment can help the symptoms of G6PD deficiency from getting worse?
- What is the usual abbreviation for G6PD deficiency?
