QUESTION: Patient came in with a 23 and me test for G6PD. Test showed 2 working copies of the G6PD gene. Is this usable for doing high-dose IVCs or do I need her to do another quantitative G6PD blood test?
ANSWER: There are more than the listed G6PD gene pairs, BUT if all listed are normal then the chance of a Quant test showing defect is LOW. If on the other hand you saw hetero or for sure homozygous pairs on that test you would have to run a Quant-G6PD to be sure the phenotypic expression was either “OK” or “Not OK” for oxidant therapy.
Am. J. Trop. Med. Hyg.,91(4), 2014, pp. 854–861 is a good reference if you want to confuse yourself on the subject