Historically, the nitroblue tetrazolium (NBT) test has been the recognized diagnostic test for chronic granulomatous disease (CGD). Relying on light microscopy, the NBT test provides only a qualitative determination of phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity.

The dihydrorhodamine (DHR) test produces fewer false-negative results than the NBT test and is known for its1,2:

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Relative ease of use

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Ability to distinguish between X-linked (gp91phox) and autosomal
recessive forms of CGD

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Ability to detect carrier status

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High sensitivity that can detect low levels of NADPH activity

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Ability to quantitatively assess residual superoxide production

If you suspect CGD,
get a DHR Collection Kit at no cost to
confirm a diagnosis

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Examples of pre- and
postactivation DHR histograms

What to look for when reading DHR histograms

These values are representations of possible DHR outcomes. Because of heterogeneity in disease severity and genotype, outcomes will vary. Lab 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).4

Importance of family testing

Because CGD is an inherited disorder, families of patients with CGD may benefit from DHR testing. Testing can help distinguish CGD subtype and identify carrier status.

An X-linked carrier mother has a 50% chance of having a carrier daughter or an affected son.2 With autosomal recessive CGD, both parents are carriers. Each child has a 75% chance of being affected or a carrier.2

Graphic showing X-Linked CGD inheritance patterns, with a 50% chance of females being unaffected or being a carrier, and a 50% chance of males being unaffected or having CGD

Graphic showing X-Linked CGD inheritance patterns, with a 50% chance of females being unaffected or being a carrier, and a 50% chance of males being unaffected or having CGD

Graphic showing Autosomal Recessive CGD inheritance patterns, with a 25% chance of each child being unaffected, a 50% chance of each child being a carrier, and a 25% chance of each child being affected

Graphic showing Autosomal Recessive CGD inheritance patterns, with a 25% chance of each child being unaffected, a 50% chance of each child being a carrier, and a 25% chance of each child being affected

Carriers may benefit from genetic counseling prior to starting a family. While CGD carriers themselves are usually not affected, they can exhibit CGD-like symptoms such as5-7:

  • Dermatitis
  • Stomatitis
  • Discoid lupus-like disease
  • Photosensitive rashes

See how to use the DHR
Collection Kit

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If you suspect CGD,
the DHR Collection Kit is being
offered at no cost

Request a Kit

1. 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. doi:10.1056/NEJMoa1007097 2. Leiding JW, Holland SM. Chronic granulomatous disease. In: Pagon RA, Adam MP, Ardinger HH, et al, eds. GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993-2016. 3. Leiding JW, Malech HL, Holland SM. Clinical Focus on Primary Immunodeficiencies: Chronic Granulomatous Disease. Immune Deficiency Foundation; 2013. 4. 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. doi:10.1067/mai.2003.58 5. Holland SM. Chronic granulomatous disease. Hematol Oncol Clin North Am. 2013;27(1):89-99. doi:10.1016/j.hoc.2012.11.002 6. Magnani A, Brosselin P, Beauté J, et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol. 2014;134(3):655-662. doi:10.1016/j.jaci.2014.04.014 7. Song E, Jaishankar GB, Saleh H, Jithpratuck W, Sahni R, Krishnaswamy G. Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy. 2011;9(1):10. doi:10.1186/1476-7961-9-10