Narcolepsy-Associated Antigen, HLA-DQB1 Typing, Blood
Use
Narcolepsy is a neurological condition characterized by excessive daytime sleepiness and abnormal REM sleep. It's associated with the HLA-DQB1*06:02 allele, found in a significant percentage of patients with narcolepsy and cataplexy. However, this allele is also present in 25% of the normal population and cannot solely be used to diagnose narcolepsy. Its absence in a patient with appropriate clinical presentation can support a negative diagnosis of narcolepsy type 1 but not type 2.
Special Instructions
The test applies Luminex technology to the reverse sequence specific oligonucleotide DNA typing method combined with PCR amplification for reliable allele detection. It's crucial to use the appropriate container type and follow collection instructions to avoid specimen rejection.
Limitations
This test relies on detecting the DQB1*06:02 allele, which is not exclusive to narcolepsy patients, thus limiting diagnostic specificity. Certain alleles may not be resolved depending on the genetic make-up of individuals from different ethnic populations. The test has not been FDA cleared or approved but follows CLIA requirements.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
LOINC Codes
- 63558-1
- 63558-1
- 50595-8
Result Turnaround Time
3-8 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
6 mL
Minimum Volume
3 mL
Container
Yellow top (ACD solution B preferred), Yellow top (ACD solution A acceptable), Lavender top (EDTA acceptable)
Collection Instructions
Send whole blood specimen in original vial. Do not aliquot.
Causes for Rejection
Extracted DNA
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | Ambient |
| Refrigerated | Preferred |