Test Background G6PD deficiency is an X-linked recessive hereditary disease characterised by abnormally low levels of G6PD, a metabolic enzyme involved in the pentose phosphate pathway and especially important in red blood cell metabolism. G6PD deficiency is the most common human enzyme defect. The clinical impact of G6PD deficiency relates to the severity of the deficiency, the age of the patient, and exposure to oxidative agents, eg. exposure to broad beans (favism) and a variety of drugs. G6PD deficiency may result in: • Severe but temporary haemolytic anaemia on exposure to oxidative agents and some physiological stresses • Neonatal jaundice • A chronic haemolytic anaemia
Clinical Indications G6PD assay is commonly requested as part of the screening procedure for prolonged neonatal jaundice and for patients likely to be prescribed oxidant drugs, such as primaquine, chloroquine or dapsone.
Drugs implicated in inducing haemolysis in G6PD deficient individuals include:
6.3-11.2 U/g Hb
Sample Required 4 mL EDTA (lavender top) adults0.5 mL EDTA (lavender top) paediatrics
Sample Volume 0.5 mL adult tube0.2 mL paediatric tube
Turnaround Time 5 days
The laboratory is not UKAS accredited for this test due to a change in equipment/assay. Awaiting assessment.