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UCLA Pathology & Laboratory Medicine

Path and Lab Administrator
On-Call Pager #: 89230
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Disease Tests

The UCLA Immunogenetics Center offers a number of different disease tests.  A comprehensive list can be seen below.

♦  Celiac Panel

♦  HLA-B27 (Ankylosing Spondylitis)

♦  HLA-B5701 (Abacavir Hypersensitivity)

♦  Narcolepsy Panel. 
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Celiac Panel

Celiac disease is an autoimmune disorder associated with the HLA markers DQ2 and DQ8. HLA-DQ2 is coded by alleles HLA-DQA1*0501 and HLA-DQB1*0201 and HLA-DQ8 is coded by alleles HLA-DQA1*03 and DQB1*0302. Approximately 95% of patients with celiac disease have HLA-DQ2 and the remaining 5% have HLA-DQ8. When genetically susceptible individuals eat gluten from wheat, rye or barley grains, they may develop an autoimmune reaction to the mucosal cells of the small intestine, which can lead to malabsorption. The treatment for celiac disease is a lifelong gluten-free diet to prevent future tissue damage. The disease is more common among individuals of European descent.

References
1American Gastroenterological Association (AGA) Institute Technical Review on the Diagnosis and Management of Celiac Disease. Gastroenterology 2006;131:1981-2002
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HLA-B27 (Ankylosing Spondylitis)

The presence of the HLA-B27 antigen is associated with inflammatory disorders, such as ankylosing spondylitis (AS), Reiters syndrome and acute anterior uveitis (AAU). HLA-B27 is strongly associated with AS and its presence parallels the HLA-B27 distribution worldwide1. A positive HLA-B27 in patients with AAU is associated with significant ocular morbidity due to recurrent attacks of inflammation and its threat of ocular complications2.  HLA-B27 antigen, however, is not causative, since 10% of normal subjects are positive. This test is not a screening test for AS. Positive results may help to confirm the diagnosis and therapeutic management in patients without the full range of symptoms.

References
1 Khan, MA, et.al. 2007. The Pathogenic role of HLA-B27 and its subtypes. Autoimmunity Reviews 6:183-189.
2 Chang, JH, et.al. 2005. Acute Anterior Uveitis and HLA-B27. Surv. Ophthalmol 50:364-388.
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HLA-B5701 (Abacavir Hypersensitivity)

The presence of the HLA-B*5701 allele is highly predictive of abacavir hypersensitivity and is present in approximately 5% of the HIV-1 positive patient population1. Hypersensitivity reactions can occur within 6 weeks of abacavir treatment and symptoms are non-specific, e.g. rash, nausea, or cough which can also be associated with infection, reaction to other drugs or inflammatory disease. The HLA-B*5701 test result can aid in differentiating a hypersensitive reaction from these other syndromes. Screening for the presence of the HLA-B*5701 allele before starting HIV-1 positive patients on abacavir therapy will minimize the risk of a hypersensitivity reaction by excluding positive patients from abacavir therapy.

References
1 Mallal, S. et.al. 2008. HLA-B*5701 Screening for Hypersensitivity to Abacavir. NEJM 358:568-579.
2 Saag, M. et.al. 2008. High Sensitivity of Human Leudocyte Antigen-B*5701 as a Marker for Immunologically confirmed Abacavir Hypersensitivity in White and Black Patients. Clin Infect Dis 46:1111-1118.
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Narcolepsy Panel

Narcolepsy is a sleep disorder that affects up to 0.2% of the general population with the highest rates among those with Japanese or other Asian ancestry1. Patients with narcolepsy-cataplexy carry HLA DRB1*1501-DQB1*0602 haplotype in 85-95% of cases, compared to about 30% of the normal population2. A positive result in symptomatic patients may help to confirm narcolepsy.

References
1 Dauvilliers,Y. et.al. 2007. Narcolepsy with cataplexy. Lancet 369: 499-511.
2 Overeem,S. et.al. 2008. Narcolepsy: Immunological aspects. Sleep Medicine Reviews 12: 95-107.

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