Birdshot retinochoroidopathy (BSRC) is a rare, chronic, bilateral, posterior uveitis characterized by distinctive, multiple, hypopigmented choroidal and retinal lesions. The pathogenesis is unknown, but HLA-A29 positivity appears to confer predisposition, and retinal autoimmunity seems to play a role.
The relative risk of BSRC among HLA-A29-positive individuals has been estimated to be 50 to 224, and most investigators recognize the presence of the HLA-A29 allele as a necessary criterion for BSRC diagnosis for research purposes. HLA-A29 is present in as many as 7% of Caucasians, and is subdivi¬ded into more than 20 subtypes.
Genvinset® HLA A29 is a semi-automated in vitro diagnostic kit for the qualitative detection of the HLA-A*29 group of alleles in genomic DNA extracted from whole blood, associated with Birdshot retinochoroidopathy predisposition, by real-time PCR using TaqMan® probes technology.
Patients who can benefit from this determination are those referred by a specialist. The results of this test should not be the only ones on which the therapeutic decision is based and should be used as an aid in the diagnosis together with results of other markers of the disease.
The intended user of the kit is technical personnel trained to carry out the protocol and the interpretation of results described in the instructions for use.
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