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Sorted By Test Name - Mayo Medical Laboratories

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NARC<br />

82026<br />

NKCP<br />

28562<br />

<strong>Test</strong> Performed <strong>By</strong>: NMS Labs<br />

3701 Welsh Road<br />

P.O. Box 433A<br />

Willow Grove, PA 19090-0437<br />

Narcolepsy-Associated Antigen, HLA-DQB1 Typing, Blood<br />

Clinical Information: Narcolepsy is a neurological condition affecting about 0.02% to 0.16% of<br />

African American, Caucasian, and Japanese individuals. It can be quite disabling because it is<br />

characterized by abnormal rapid eye movement (REM) sleep, cataplexy, hypnagogic hallucinations, and<br />

sleep paralysis. Studies have identified DQB1*06:02 as a useful marker of narcolepsy. While<br />

DQB1*06:02 is found in virtually all African American, Caucasian, and Japanese narcoleptics, it must be<br />

clearly understood that some patients do not have this allele and, more importantly, about 25% of normal<br />

people have this gene. Because DQB1*06:02 is present in the normal population, no test for an HLA gene<br />

constitutes a test for narcolepsy. A more reliable approach would be to consider that, in an appropriate<br />

patient, the absence of the strongly associated DQB1*06:02, provides good evidence that the patient does<br />

not have narcolepsy.<br />

Useful For: Ruling out a diagnosis of narcolepsy<br />

Interpretation: If DQB1*06:02 is not detected, the narcolepsy-associated antigen test result will be<br />

reported as negative for DQB1*06:02. If the allele is detected, the result will be reported as positive for<br />

DQB1*06:02.<br />

Reference Values:<br />

An interpretive report will be provided.<br />

Clinical References: 1. Mignot E, Lin X, Arrigoni J, et al: DQB1*0602 and DQB1*0102 (DQ1) are<br />

better markers than DR2 for narcolepsy in Caucasian and Black Americans. Sleep 1994;17:S60-67 2.<br />

Chabas D, Taheri S, Renier C, Mignot E: The genetics of narcolepsy. Ann Rev Genomics Hum Genet<br />

2003;4:459-483<br />

Natural Killer (NK) Cytotoxicity Profile<br />

Clinical Information: Natural Killer (NK) Cytotoxicity Profile: Lymphocyte-mediated cytotoxicity<br />

(cell-mediated immunity) includes 3 principal types of lytic activity: antibody-dependent cellular<br />

cytotoxicity, T-lymphocyte major histocompatibility complex (MHC) restricted cytotoxicity, and MHC<br />

unrestricted cytotoxicity. The latter is also called NK cell activity. NK cell activity is mediated by<br />

lymphocytes (primarily CD3- and CD16+ large granular and small granular lymphocytes) that are<br />

constitutively cytocidal when incubated with various tumor-transformed or virus-infected cells. NK lytic<br />

activity is postulated to play a physiologic role in host defense against virus-infected cells and in immune<br />

surveillance against tumors. T- and B-Cell Quantitation by Flow Cytometry: Normal immunity requires a<br />

balance between the activities of various lymphocyte subpopulations with different effector and<br />

regulatory functions. Different immune cells can be characterized by unique surface membrane antigens<br />

described by a cluster of differentiation nomenclature (eg, CD3 is an antigen found on the surface of T<br />

lymphocytes). Abnormalities in the number and percent of T (CD3), T-helper (CD4), T-suppressor (CD8),<br />

B (CD19), and natural killer (CD16+CD56) lymphocytes have been described in a number of different<br />

diseases. In patients who are infected with HIV, the CD4 count is measured for AIDS diagnosis and for<br />

initiation of antiviral therapy. The progressive loss of CD4 T lymphocytes in patients infected with HIV is<br />

associated with increased infections and complications. The Public Health Service has recommended that<br />

all HIV-positive patients be tested every 3 to 6 months for the level of CD4 T lymphocytes. The absolute<br />

counts of lymphocyte subsets are known to be influenced by a variety of biological factors, including<br />

hormones, the environment, and temperature. The studies on diurnal (circadian) variation in lymphocyte<br />

counts have demonstrated progressive increase in CD4 T-cell count throughout the day, while CD8 T<br />

cells and CD19+ B cells increase between 8:30 am and noon, with no change between noon and<br />

afternoon. NK cell counts, on the other hand, are constant throughout the day.(1) Circadian variations in<br />

Current as of January 4, 2013 7:15 pm CST 800-533-1710 or 507-266-5700 or <strong>Mayo</strong><strong>Medical</strong><strong>Laboratories</strong>.com Page 1284

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