INDIVIDUAL TEST 291
HLA-DQB1*06:02 (Narcolepsy)
Indication
Suspicion of narcolepsy.
Method
Sequencing using whole EDTA-blood.
Result
The result is reported as positive or negative.
Interpretation
Over 90% of individuals with narcolepsy with cataplexy carry the genetic HLA allele DQB1*0602 Moreover, the DQB1*0602 allele is positive in 35% to 56% of patients with narcolepsy without cataplexy. In the normal population 20% have DQB1*0602 allele, which means the diagnosis cannot be made solely by means of the DQB1*0602 allele. Hypocretin-1 levels are usually significantly reduced in individuals with narcolepsy with cataplexy and are together with HLA-DQB1*0602 a very strong indication of narcolepsy with cataplexy. Antibodies against Tribbles homolog 2 (Trib 2) has been detected in up to 26% of patients with narcolepsy with cataplexy.
References
- Parish JM. Genetic and immunologic aspects of sleep and sleep disorders. Chest. 2013 May: 143(5):1489-99. PMID: 23648914
Last updated: 2024-07-02
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ENSKILD ANALYS 291
HLA-DQB1*06:02 (Narkolepsi)
Indikation
Typning av HLA allelen DQB1*0602 vid misstanke om narkolepsi.
Metod
Sekvensering av helblod.
Resultat
Svaret anges som positivt eller negativt.
Tolkning
Över 90% av individerna med narkolepsi med kataplexi bär på den genetiska HLA allelen DQB1*0602. Dessutom är DQB1*0602 allelen positiv i 35% till 56% av patienter med narkolepsi utan kataplexi. I den normala populationen har 20% DQB1*0602 allelen, vilket gör att diagnos ej kan ställas enbart med hjälp av DQB1*0602 allelen. Hypocretin-1-nivåerna är vanligen kraftigt sänkta hos individer med narkolepsi med kataplexi och ger tillsammans med HLA-DQB1*0602 en mycket stark indikation på narkolepsi med kataplexi. Antikroppar mot Tribbles homolog 2 (Trib 2) har detekterats hos upp till 26% av patienter med narkolepisi med kataplexi.
Referenser
- Parish JM. Genetic and immunologic aspects of sleep and sleep disorders. Chest. 2013 May;143(5):1489-99. PMID: 23648914
Senast uppdaterat: 2024-07-02