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HLA NARCOLEPSY EVALUATION
Test CodeLAB1835
Quest Code
12342
CPT Codes
81383
Preferred Specimen
5 mL whole blood collected in an EDTA (lavender-top) tube
Minimum Volume
3 mL
Other Acceptable Specimens
Whole blood collected in: Sodium heparin (green-top) tube, EDTA (pink-top) tube, EDTA (royal blue-top) tube, or 3.2% sodium citrate (light blue-top) tube
Instructions
If submitted with any other tests, please submit separate tube for this test. Do not open tube or split sample. Shipping refrigerated is acceptable.
Transport Container
EDTA (lavender-top) tube
Transport Temperature
Room temperature
Specimen Stability
Room temperature: 7 days
Refrigerated: 7 days
Frozen: Unacceptable
Refrigerated: 7 days
Frozen: Unacceptable
Reject Criteria (Eg, hemolysis? Lipemia? Thaw/Other?)
Clotted
Methodology
Polymerase Chain Reaction Amplification • Sequence Specific Oligonucleotide Probes
Setup Schedule
Daily
Report Available
9-10 days
Reference Range
See Laboratory Report
Clinical Significance
The HLA-DQB1*06:02 is strongly associated with narcolepsy, a neurological condition associated with excessive daytime sleepiness, cataplexy, and other nighttime sleep disorders. Presence of HLA-DQB1*06:02 by itself is not diagnostic. It is used along with clinical history and sleep studies in the diagnosis of narcolepsy. Narcolepsy is associated with HLA DR15 (DR2) and DQB1*0602. DQB1*0602 was found to be a more sensitive marker for narcolepsy than DRB1*15 across all ethnic groups. DQB1*0602 frequency was strikingly higher in patients with cataplexy versus patients without cataplexy (76.1% in 421 patients versus 40.9% in 88 patients).
Reference:
E Mignot, et al. Sleep.1997 Nov;20(11):1012-20
Reference:
E Mignot, et al. Sleep.1997 Nov;20(11):1012-20
Performing Laboratory
Quest Diagnostics Nichols Institute-Chantilly VA |
14225 Newbrook Drive |
Chantilly, VA 20151-2228 |
Last Updated: December 17, 2024