Genvinset® HLA A29

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.

INTENDED USE

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.

WORKFLOW

RESULTS

Limitations

• See detected alleles acceding to Download section.
• Mutations or polymorphisms at annealing primer/probe sites are possible and may result in the lack of allele definition. Other technologies could be necessary to resolve the typing.
• Data and result interpretation should be revised by qualified personnel.
• This product is an auxiliary tool for the diagnosis of patients with suspected birdshot retinochoroidopathy. Use these results in conjunction with clinical data and results of other tests performed on the patient.