Inherited Disorders of the Complement System are rare disorders that predispose to bacterial infections and/or systemic lupus erythematosus (SLE). The complement system is a group of circulating proteins that participate in the innate immunity, bind to pathogens and destroys them. In addition to playing an important role in host defense against infection, the complement system is a mediator in both the pathogenesis and prevention of immune complex disease such as SLE. Inherited disorders of the complement system are associated with predictable defects in complement-dependent function, as the affected individual loses not only the activity of the deficient protein, but also the functions of the proteins in the cascade. Additionally, it can also be due to heterozygous deficiency. These are generally classified in two categories: 1) integral component defects and 2) regulatory component defects.
The Igenomix Inherited Disorders of the Complement System 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.
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, antifungals, rapid recognition and treatment of infections as well as aggressive management of infectious complications. For those patients presenting with autoimmune disease, treatment of these patients focuses on immunosuppressive therapy.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
- Improvement of delineation of genotype-phenotype correlation.
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