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HLA-A29 Determination
Test Code12343
CPT Codes
81381
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (green-top) tube, EDTA (pink-top) tube, EDTA (royal blue-top) tube, or sodium citrate (light blue-top) tube
Instructions
If submitted with any other tests, please submit separate tube for this test. Do not open tube or split sample.
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Refrigerated: 7 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Received frozen • Clotted
Methodology
Polymerase Chain Reaction Amplification • Sequence Specific Oligonucleotide Probes
Setup Schedule
Set up: Daily; Report available: 8 days
Reference Range
See Laboratory Report
Clinical Significance
The HLA-A*29.02 allele is strongly associated with Birdshot Retinochoroidopathy (BSRC), an autoimmune disorder that can lead to severe visual impairment. Not all BSRC patients carry this allele and not all individuals with this allele develop the disease. Consider sarcoidosis, tuberculosis, syphilis, and ocular lymphoma in differential diagnoses of BSCR, particularly in those cases where the chorioretinal lesions are less typical of the small oval 'Birdshot' lesions.
Reference:
Herbort, CP, et al. Br J Ophthalmol (2017) 101:851-5.
Reference:
Herbort, CP, et al. Br J Ophthalmol (2017) 101:851-5.