Narcolepsy-Associated Antigen, HLA-DQB1 Typing, Blood
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Narcolepsy is a neurological condition affecting about 0.02% of African American, Caucasian, and Japanese individuals. It is characterized by excessive daytime somnolence and abnormal rapid eye movement (REM) sleep. Cataplexy (weakness precipitated by emotions, especially laughter) is present in 64% to 79% of patients with narcolepsy.
Studies have identified DQB1*06:02 as a useful marker of narcolepsy. DQB1*06:02 is found in 90% to 95% of African American, Caucasian, and Japanese patients with narcolepsy who also have cataplexy (narcolepsy type 1), but only in 45% to 50% of patients with narcolepsy without cataplexy (narcolepsy type 2). It must also be clearly understood that about 25% of normal people have this gene.
Because DQB1*06:02 is present in the normal population, no test for an HLA gene constitutes a test for narcolepsy. A more reliable approach would be to consider that, in an appropriate patient who has cataplexy, the absence of the strongly associated DQB1*06:02, provides good evidence that the patient does not have narcolepsy. However, its absence does not rule-out narcolepsy without cataplexy (narcolepsy type 2).
Ruling out a diagnosis of narcolepsy
If DQB1*06:02 is not detected, the narcolepsy-associated antigen test result will be reported as negative for DQB1*06:02.
If the allele is detected, the result will be reported as positive for DQB1*06:02.
Cautions Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
No significant cautionary statements
Reference Values Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
An interpretive report will be provided.
Clinical References Provides recommendations for further in-depth reading of a clinical nature
1. Mignot E, Lin X, Arrigoni J, et al: DQB1*0602 and DQB1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and Black Americans. Sleep 1994;17:S60-67
2. Chabas D, Taheri S, Renier C, Mignot E: The genetics of narcolepsy. Ann Rev Genomics Hum Genet 2003;4:459-483
3. Andlauer O, Moore H 4th, Hong SC, et al: Predictors of hypocretin (orexin) deficiency in narcolepsy without cataplexy Sleep 2012 Sep 1;35(9):1247-55F