Narcolepsy Evaluation

HLA DQB1*06:02 and HLA DQA1*01:02 are associated statistically with narcolepsy and are sometimes used as tests in support of that diagnosis.

Even with appropriate precautions, an occasional specimen may not be satisfactory for testing. In such cases, fresh specimens should be collected for retesting. Narcolepsy-associated HLA alleles are not diagnostic, but they are useful in stratifying risk.

Mignot E, Lin L, Rogers W, et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet. 2000 Mar; 68(3):686-699. PubMed 11179016