Ankylosing Spondylitis (HLA-B27) Genotyping

Background Information for Ankylosing Spondylitis (HLA-B27) Genotyping:
Characteristics: Ankylosing spondylitis (AS) is a chronic inflammatory disease that primarily causes pain and inflammation of the joints between the vertebrae of the spine and the sacroiliac joints. Inflammation and pain may occur in other parts of the body as well. HLA-B27 is strongly associated with ankylosing spondylitis (AS) as well as with Reiter syndrome, anterior uveitis, psoriatic arthritis, and inflammatory bowel disease.
Incidence: Greater than 90 percent of patients with AS are HLA-B27 positive compared to 5-10 percent of the general population.
Penetrance: Two to eight percent of individuals with HLA-B27 will develop AS.
Methodology: Polymerase chain reaction (PCR) and fluorescence monitoring.
Analytical Sensitivity and Specificity: 99 percent
Limitations: This test does not rule out the B*27:06 and 27:09 alleles, which are not associated with spondyloarthropathies. Certain rare alleles present in less than 1 percent of the population will not be detected. Other rare, or uncharachterized alleles may occur which may lead to false positive or false negative results.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.