Test Type: Kit Based, Buccal Swab


Narcolepsy is a chronic, debilitating sleep disorder which is characterized by cataplexy (i.e. sudden transient muscular weakness), sleep paralysis, disturbed night sleep and excessive daytime sleepiness.
Narcolepsy is caused by deficiencies in the hypothalamic neurotransmitter, hypocretin (also known as orexin), most likely through autoimmune-mediated cell death of the neurons producing this neurotransmitter. Hypocretin is a neuropeptide hormone that is responsible for controlling appetite and sleep patterns.

Clinical Utility

Patients are typically booked for a sleep study to establish breathing, heart rate, brain activity, and other bodily functions during the night to determine abnormal patterns of sleep. Laboratory tests to diagnose narcolepsy are dependent on analysis of orexin levels in the cerebrospinal fluid (CSF), which requires a highly invasive and painful lumbar puncture.

Genetics can play an important role in certain patients with narcolepsy. One important predisposing genetic factor is the HLA-DQB1*06:02 allele in the DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype. Between 85 to 95 percent of narcoleptics with the symptom of sudden muscle weakness have this combination of alleles. HLA-DQB1*06:02 genotyping, can be particularly useful in helping to diagnose patients with the symptom of sudden muscle weakness with narcolepsy.

Collection Details:

Patient Preparation:

1. Please fill out all sections of the requisition form provided in your kit.

2. Rinse your mouth with cold water before you begin collecting your sample and then swallow to remove excess saliva.

3. Open one swab at a time and collect the sample by rubbing the swab on the inside of your cheek about 20 times or for 15-20 seconds in a circular motion. Swab firmly so that the cheek is pushed outward.

4. Dry the swab by shaking it in the air for 10-20 seconds.

5. Place the dried swab back in its original sleeve.

6. Use the other cheek for the next swabs. Repeat the same process for the rest of the swabs.  Collect sample on all 3 swabs.

6. Place the swab sleeves containing the dry swabs and Requisition Form in the Kashi paper envelope included in the kit.

7. [Important] Sign and fill in your name and date of sample collection on the envelope.



8. Ship the test kit back to the laboratory using the shipping mailer provided.