Rheumatoid Arthritis (RA) is a symmetric, inflammatory, peripheral polyarthritis of unknown aetiology that primarily involves synovial joints. The immune system targets the synovium (membrane which contains the synovial fluid) causing a painful inflammation around the affected zone which can be disabling in some cases. It typically leads to deformity through the stretching of tendons and ligaments and destruction of joints. A late prognosis can cause loss of physical function and inability to carry out daily task. The most distinctive signs of rheumatoid arthritis are joint erosions and rheumatoid nodules. The mode of inheritance varies from autosomal dominant to recessive, although the autosomal recessive inheritance is the most common type.
The Rheumatoid Arthritis Igenomix Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of arthritis 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 multidisciplinary treatment including pharmacologic therapy with nonsteroidal anti-inflammatory drugs to reduce disease activity, as well as Disease-Modifying Antirheumatic Drugs (DMARDs) to reduce or prevent joint damage and preserve joint integrity and function. Psychosocial intervention, physical therapy and occupational therapy are also key tools to help the patient overcome the symptoms and the changes in lifestyle.
- 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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