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Genomics Precision Diagnostic > Rheumatology Precision Panel > Rheumatoid Arthritis Precision Panel

Rheumatoid Arthritis Precision Panel

Usher Syndrome (USH) is a clinically and genetically heterogeneous disorder presenting with sensorineural hearing loss due to an impaired ability of the inner ear and auditory nerves to transmit sensory input to the brain. 
Rheumatology
Overview
Indication
Clinical Utility
Genes & Diseases
Methodology
References

Overview

  • 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. 

Indication

  • The Igenomix Usher Syndrome Precision Panel is indicated for those patients with a clinical suspicion or diagnosis of Usher Syndrome presenting with: 
    • Decreased grip strengt
    • Synovial Thickening 
    • Fever
    • Significant weight loss

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 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.

Genes & Diseases

Methodology

References

See scientific referrals

Wasserman A. M. (2011). Diagnosis and management of rheumatoid arthritis. American family physician, 84(11), 1245–1252.

Littlejohn, E. A., & Monrad, S. U. (2018). Early Diagnosis and Treatment of Rheumatoid Arthritis. Primary care, 45(2), 237–255. https://doi.org/10.1016/j.pop.2018.02.010

Burmester, G. R., & Pope, J. E. (2017). Novel treatment strategies in rheumatoid arthritis. Lancet (London, England), 389(10086), 2338–2348. https://doi.org/10.1016/S0140-6736(17)31491-5

Bullock, J., Rizvi, S., Saleh, A. M., Ahmed, S. S., Do, D. P., Ansari, R. A., & Ahmed, J. (2018). Rheumatoid Arthritis: A Brief Overview of the Treatment. Medical principles and practice: international journal of the Kuwait University, Health Science Centre, 27(6), 501–507. https://doi.org/10.1159/000493390

Savtekin, G., & Sehirli, A. O. (2018). Rheumatoid arthritis in temporo-mandibular joint: A review. Nigerian journal of clinical practice, 21(10), 1243–1246. https://doi.org/10.4103/njcp.njcp_117_18

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      • ALICE
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      • EMBRACE
      • PGT-A
      • PGT-A Plus
      • PGT-M
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