Chronic Granulomatous Disease Precision Panel – 9 genes

Overview

• Chronic Granulomatous Disease (CGD) is a genetically heterogeneous condition featuring recurrent, life-threatening bacterial and fungal infections as well as granuloma formation. CGD is caused by defects in the oxidative mechanisms found in phagocytes that are responsible for the destruction of certain microbes. Thus, these genetic defects result in a primary immunodeficiency caused by the inability of phagocytes to destroy foreign microbes. The characteristic infections of patients with CGD are those caused by catalase positive microorganism in the lung, skin, lymph nodes and liver. Symptoms typically appear during the first year of life in the form of infections, dermatitis, gastrointestinal complications and failure to thrive. This disease primarily affects males, and the mode of inheritance is X-linked.  

• The Igenomix Chronic Granulomatous Disease Precision Panel can be used for an accurate and directed diagnosis as well as differential diagnosis of recurrent infections ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved. 

   

Indication

• The Igenomix Chronic Granulomatous Disease Precision Panel is used for patients with a clinical diagnosis or suspicion with or without the following symptoms: 
  • Recurrent bacterial infections 
  • Recurrent fungal infections 
  • Growth failure 
  • Abnormal wound healing 
  • Diarrhea 
  • Granulomatous dermatitis 
  • Hepatomegaly 
  • Splenomegaly
  • Lymphadenitis 

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. 
• Early initiation of antimicrobial prophylaxis with antibacterial, antifungal and immunomodulators, rapid recognition and treatment of infections as well as aggressive management of infectious complications. In case of multidrug refractoriness, life-threatening infections, hematopoietic stem cell transplantation (HSCT) represents a valid curative option.  
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.  
• Improvement of delineation of genotype-phenotype correlation.  

Genes & Diseases

* Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial; G: Gonosomal Inheritance; D: Digenic Inheritance 

** HGMD: Number of clinically relevant mutations according to HGMD