- Patient Preparation
- Lavender (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).
- Specimen Preparation
- Transport 3 mL whole blood. (Min: 1 mL)
- Storage/Transport Temperature
- Unacceptable Conditions
- Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable
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: TheHLA-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.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
|Component Test Code*||Component Chart Name||LOINC|
|2011703||Narcolepsy - Specimen|
- Narcolepsy Evaluation