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
Not provided.
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
No genes
Gene
LOINC Codes
- 63558-1 - HLA-DQB1*06:02 Ql
- 63558-1 - HLA-DQB1*06:02 Ql
- 50595-8 - Path Interp Spec-Imp
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 |