Kimball Genetics - Narcolepsy DNA Test


Narcolepsy DNA Test

Narcolepsy is the most common disorder of excessive daytime sleepiness (EDS), affecting 1/200-1/500 individuals in the United States. Excessive daytime sleepiness and cataplexy (the sudden loss of muscle control during emotions) are the two most prominent features of this disorder. Other sleep abnormalities include disturbed nocturnal sleep and abnormalities in REM sleep, such as sleep paralysis and hypnagogic hallucinations (hallucinations in the period between sleep and wakefulness). Narcolepsy is typically diagnosed in adulthood, but can be present in children as young as 5 years old. Familial clustering of this disease is seen in 10% of cases and the risk to first-degree relatives is estimated at 1-2%. Narcolepsy is a life-long disorder and treatment is focused on controlling symptoms.

Narcolepsy is strongly associated with the human leukocyte antigen (HLA) alleles DQB1*0602 and DQA1*0102, suggesting a possible autoimmune etiology. Approximately 85-95% of individuals with narcolepsy have DQB1*0602 and DQA1*0102 as compared to 25% of the general Caucasian population. Detection of DQB1*0602 and DQA1*0102 by DNA testing is important for distinguishing narcolepsy from other sleep disorders and determining the optimal course of treatment.

Indications for Narcolepsy DNA Testing:
• Chronic, excessive daytime sleepiness without apparent cause • Cataplexy • Sleep dysfunction including disturbed nocturnal sleep and/or REM sleep abnormalities • Abnormal Multiple Sleep Latency Test (MSLT) and/or polysomnography test results • Relatives of individuals diagnosed with narcolepsy
Please call Kimball Genetics for more information.

Our Narcolepsy DNA Test Service Provides:

•	PCR analysis for the narcolepsy-associated DQB10602 and DQA10102 alleles
•	Detailed reports with genetic interpretation, recommendations, and education
•	Free genetic counseling for physicians, patients, and families

Specimen Requirements:

•	5 ml blood in an EDTA (lavender top) tube, room temperature

Turnaround Time:

•	1-2 business days

References PDF

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