Please enter an email address
This website will not save the email address. It will only be used to send the requested document.
This website will not save the email address. It will only be used to send the requested document.
You are about to go to a website sponsored by Amgen. Would you like to continue?
You will be going to an external website operated by an independent third party. Your activities at the external website will be managed by their policies and practices. By clicking “Continue,” you will go to the external website.
Previously, the nitroblue tetrazolium (NBT) test was the recognized diagnostic test for CGD. Relying on light microscopy, the NBT test relies on a subjective analysis of phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity.1
While some physicians still use the NBT test, it has been largely replaced by the flow cytometric DHR test.1
The DHR test has user-friendly steps and provides standardized and quantifiable results alongside enhanced sensitivity.1
May distinguish between X-linked and autosomal
recessive forms of CGD
Ability to evaluate X-linked carriers possibly at risk
for infections
High sensitivity that can detect low levels of
NADPH activity
Ability to quantitatively assess residual superoxide
production
Testing may help identify patients before a serious infection occurs.
The DHR test has largely replaced the NBT test to diagnose CGD.1
The histograms show the difference in neutrophil NADPH oxidase activity in both an unstimulated sample and a sample that has been stimulated with PMA. There is a strong shift on the x-axis after PMA stimulation, indicating normal, robust neutrophil NADPH oxidase activity.
X-linked carriers, who are often diagnosed after a diagnosis of a relative with X-linked CGD, must be identified early to prevent disease progression and poor outcomes.4,5
These values are representations of possible DHR outcomes. Because of heterogeneity in disease severity and genotype, outcomes will vary. Laboratory results typically include percentage (%) of residual oxidative burst values.
Abbreviations: MFI, mean fluorescence intensity; PMA, phorbol myristate acetate
*PMA is an activator used to stimulate neutrophil NADPH oxidase activity.
†Usually a female with a healthy and a mutated allele for gp91phox.
Adapted from Leiding JW, et al (2013)3 and Jirapongsananuruk O, et al (2003).7
‡Symptomatic autoimmunity does not correlate with DHR levels, but is associated with the carrier state.6
1. Yu JE, Azar AE, Chong HJ, Jongco AM III, Prince BT. Considerations in the diagnosis of chronic granulomatous disease. J Pediatric Infect Dis Soc. 2018;7(suppl 1):S6-S11. 2. Kuhns DB, Alvord WG, Heller T, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-2610. 3. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2022. 4. Choi J, Kane T, Propst L, Spencer S, Kostialik J, Arjunan A. Not just carriers: experiences of X-linked female heterozygotes. J Assist Reprod Genet. 2021 Oct;38(10):2757-2767. 5. Hauck F, Koletzko S, Walz C, et al. Diagnostic and treatment options for severe IBD in female X-CGD carriers with non-random X-inactivation. J Crohns Colitis. 2016 Jan;10(1):112-5. 6. Marciano BE, Zerbe CS, Falcone EL, et al. X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability. J Allergy Clin Immunol. 2018 Jan;141(1):365-371. 7. Jirapongsananuruk O, Malech HL, Kuhns DB, et al. Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay. J Allergy Clin Immunol. 2003;111(2):374-379.
