May help rule out narcolepsy when clinical history and sleep studies are inconclusive.
Polymerase Chain Reaction/Fluorescence Monitoring
Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
Transport 3 mL whole blood. (Min: 1 mL)
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
Background Information for Narcolepsy (HLA-DQB1*06:02) Genotyping:
Characteristics: Narcolepsy is a sleep disorder associated with invalidating excessive daytime sleepiness and cataplexy (the sudden loss of muscle tone triggered by strong emotions). Additionally, disturbed nighttime sleep, sleep paralysis, and hypnagogic hallucinations (occurring in the period between sleep and wakefulness) are common.
Incidence: Narcolepsy affects approximately 1 in 2,000 individuals.
Cause: The HLA-DQB1*06:02 allele is strongly associated with narcolepsy, but by itself is not causative. Recent studies indicate HLA-DRB1*15 is not associated with narcolepsy.
Mutations Tested: HLA-DQB1*06:02 allele.
Clinical Sensitivity: 85-95 percent depending on ethnicity. Greater than 99 percent of affected Caucasians with cataplexy have the HLA-DQB1*06:02 allele.
Clinical Specificity: Less than 1 percent; 15-25 percent of unaffected Caucasians have the HLA-DQB1*06:02 allele.
Methodology: PCR with melting curve analysis.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: This methodology will not differentiate between individuals who are heterozygous (one copy) and those who are homozygous (two copies) for the HLA-DQB1*06:02 allele. Rare diagnostic errors may occur due to primer site mutations. Alleles other than HLA-DQB1*06:02 are not identified. Other genetic and non-genetic factors that influence narcolepsy are not evaluated.
This test was developed and its performance characteristics determined by ARUP Laboratories. It has not been cleared or approved by the US Food and Drug Administration. This test was performed in a CLIA certified laboratory and is intended for clinical purposes.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
Laboratory Developed Test (LDT)
|Component Test Code*||Component Chart Name||LOINC|
|2011703||Narcolepsy - Specimen|
- Narcolepsy Evaluation