Narcolepsy HLA-DQ Genotyping (HLA-DQB1*06:02)
Also known as: HLANARCO
Use
Narcolepsy HLA-DQ Genotyping (HLA-DQB1*06:02) is utilized to rule out narcolepsy when clinical history and sleep studies are inconclusive. Narcolepsy is a chronic neurological sleep disorder characterized by excessive daytime sleepiness and difficulty maintaining wakefulness. Type 1 narcolepsy is associated with cataplexy, disturbed nighttime sleep, sleep paralysis, and hypnagogic hallucinations. The HLA-DQB1*06:02 allele plays a significant role in the condition, with greater than 98% of affected Caucasian individuals with cataplexy carrying it. However, it is not solely causative; multifactorial inheritance is involved.
Special Instructions
Not provided.
Limitations
Rare diagnostic errors may occur due to primer site mutations. Other genetic and non-genetic factors influencing narcolepsy are not evaluated. HLA alleles that cannot be resolved unambiguously will be reported based on common allele frequencies. HLA-DQB1*06:02 is associated with narcolepsy but not wholly causative, and other genetic and environmental factors may contribute.
Methodology
PCR-based (PCR)
Biomarkers
HLA-DQB1
Gene
LOINC Codes
- 57299-0 - HLA-DQB1 High Res
- 96625-9 - HLA typ comm-Imp
Result Turnaround Time
8-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA). Also acceptable: Yellow (ACD solution A).
Storage Instructions
Refrigerated.
Causes for Rejection
Specimens collected in yellow (ACD solution B). Clotted, grossly hemolyzed, or heparinized specimens.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
Other tests from different labs that may be relevant
