Chronic granulomatous disease and other microbial killing defects

The Sanquin Chronic Granulomatous Disease NGS Panel (test code X024, X026) includes 7 genes related to Chronic Granulomatous Disease (CGD).

About 70% of the CGD patients have a defect in the X-linked gene CYBB. The remainder of the patients have a pathogenic variant in NCF1, NCF2, CYBA or NCF4. A loss-of-function mutation or a hypomorphic reduction-in-function mutation in any of these five genes can cause CGD. Glucose-6-phosphate dehydrogenase (G6PD) is included in this gene panel, because G6PD deficiency in severe form may lead to insufficient NADPH formation in leucocytes, thus hampering NADPH oxidase activity. Rac2, another gene to cause a disorder related to CGD, is also included.