Send whole blood specimen in original vial. Do not aliquot.
Specimen acceptability is based on extracted DNA concentration and not sample age.
Based on the catalog of common, intermediate, and well-documented alleles in the world population, certain intermediate or common alleles in some ethnicities may not be resolved.
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).