Birdshot chorioretinopathy (BSCR) is a rare form of autoimmune uveitis that can lead to severe visual impairment. Greater than 95% of patients diagnosed with BSCR carry the human leukocyte antigen (HLA)A*29 allele of the major histocompatibility complex (MHC). The MHC family of genes code for a highly variable set of cell surface glycoproteins (HLAs) that play a critical role in presenting antigens to T cell receptors to elicit an immune response.
Lavender (EDTA), 10mL
Two (2) Lavender (EDTA), 4mL
Ambient (strict) – 7 days
Frozen – NO
Refrigerated - NO
Sequence-based typing (SBT), sequence-specific oligonucleotide probes (SSOP), and/or sequence-specific primers (SSP) as needed to obtain the required resolution.
The presence of HLA A*29 alone is not sufficient for a diagnosis of Birdshot Chorioretinopathy. Many individuals with HLA A*29 do not have the disease and some patients with the disease do not have HLA A*29.