Chronic Granulomatous Disease (CGD)

Laboratory Test Ordering Information

January 2010

This slide provides information on ordering the tests described in this presentation including the DHR flow assay which is performed at Mayo Clinic. Genetic testing for all the 4 genes associated with CGD is available through Gene Dx Labs, while there are other academic and reference labs that provide testing for the CYBB gene, which accounts for 70% of CGD cases.

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Test Ordering Information

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Jump to section:

• Introduction
• Primary Immunodeficiencies (PIDs): What Are They?
• Primary Immunodeficiencies (PIDs): What Are They?
• Relative Distribution of the PIDs
• Components and Kinetics of the Immune Response
• Mechanisms of Innate Immunity
• Defect in the Innate Immune System: Chronic Granulomatous Disease
• Molecular Pathogenesis
• Clinical Features
• Laboratory Diagnosis of Neutrophil Oxidative Burst
• Nitro Blue-Tetrazolium Test (NBT)
• Dihydrorhodamine (DHR) Flow Cytometric Assay for Diagnosis of CGD
• Neutrophil Oxidative Burst: Normal Individual
• X-linked CGD
• Symptomatic Female Carrier with CGD
• Autosomal Recessive CGD
• Autosomal Recessive CGD
• Laboratory Test Ordering Information
• Questions?