Category: |
Immunogenetics Rheumatology |
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Test Code: | 147 |
Disease: | • Rheumatoid Arthritis • Pharmacogenetics/Ocular Immunogenetics |
Methodology: | Sequence specific primers |
Reference Range: | Reported positive with subtype or negative. |
CPT Code: | 83891; 83898(x31); 83894; 83912. |
Schedule / Turnaround Time: | Assay performed daily. Report availability is within 48 hours from the time of specimen receipt. |
Specimen Requirements: |
Specimen must be kept in ambient temperature and should not be refrigerated or frozen. Collect 5 ml of blood in a lavender top Hemogard (EDTA) tube. |
Sample Stability: |
Sample is stable at ambient temperature and should be analyzed within 76 hours. |
Relevance: |
Rheumatoid Arthritis is a heterogeneous clinical syndrome. While some patients may experience a rather benign course, others experience a rapidly progressive synovitis, leading to irreversible joint damage. The presence of the HLA DR4 genetic marker serves as a risk indicator for severe forms of the disease. Because the DR4 marker is more prevalent than the disease itself, it is not a highly specific diagnostic tool. However, taking into consideration HLA DR4 subtypes, the limitation may be resolved. For example, DR4 subtypes *04:01 and *04:04 are associated with the disease whereas the *04:02 and *04:03 members of the DR4 family are not. A strong association between the DRS heterozygotes *04:01/*04:04 and juvenile rheumatoid arthritis suggests that this genetic combination predisposes an early onset of disease. Although DR4 does not predict disease, it is a useful indicator of disease progression and prognosis when other clinical factors are taken into account. For example, the presence of the DR4 marker in a patient with pre-erosive arthritis indicates the likelihood of rapid progression to erosive disease. |