Question 1

What is Narcolepsy?

Accepted Answer

Narcolepsy is a chronic neurological disorder that affects the brain's ability to control sleep-wake cycles, characterized by overwhelming daytime drowsiness and sudden sleep attacks. It is caused by the loss of hypocretin-producing neurons in the hypothalamus, often associated with specific HLA gene variants. The HLA DRB1,DQB1 Low Resolution test is the most important test for assessing genetic risk factors because it examines both HLA-DRB1*15:01 and HLA-DQB1*06:02 genes simultaneously.

Question 2

What causes narcolepsy?

Accepted Answer

Narcolepsy is caused by the loss of hypocretin-producing neurons in the hypothalamus, the brain region that regulates sleep-wake cycles. This loss is strongly linked to specific genetic variants in the HLA (Human Leukocyte Antigen) genes, particularly the HLA-DRB1*15:01 and HLA-DQB1*06:02 alleles. While the exact trigger is not fully understood, research suggests that an autoimmune response may destroy these critical brain cells in people who carry these genetic markers, leading to the inability to properly regulate sleep patterns.

Question 3

What is the best test for narcolepsy?

Accepted Answer

The HLA DRB1,DQB1 Low Resolution test is the most important blood test for assessing genetic risk factors for narcolepsy because it examines both HLA-DRB1 and HLA-DQB1 genes simultaneously. This test specifically detects the HLA-DRB1*15:01-DQB1*06:02 haplotype combination, which is present in approximately 90% of people with narcolepsy with cataplexy. Additional supporting tests include the HLA DRB1 Low Resolution test, which identifies the HLA-DRB1*15:01 allele alone, and the HLA DQB1 Low Resolution test, which focuses on DQB1 variants. While these genetic tests do not diagnose narcolepsy definitively, they provide critical risk assessment information that supports clinical diagnosis when combined with sleep studies and symptom evaluation.

Question 4

When should I get tested for narcolepsy?

Accepted Answer

You should get tested if you experience excessive daytime sleepiness that interferes with daily activities, sudden muscle weakness triggered by strong emotions (cataplexy), or if you fall asleep at inappropriate times despite getting adequate nighttime sleep. Testing is also important if you have vivid hallucinations when falling asleep or waking up, experience temporary paralysis upon waking, or have a family history of narcolepsy. Early genetic testing can help identify risk factors and support your doctor in making an accurate diagnosis, especially when combined with sleep studies and clinical evaluation.

Question 5

What are the symptoms of narcolepsy?

Accepted Answer

Narcolepsy symptoms include overwhelming daytime sleepiness, sudden uncontrollable sleep attacks at any time during the day, and cataplexy (sudden muscle weakness triggered by strong emotions like laughter or surprise). You might also experience sleep paralysis, which is the temporary inability to move or speak when falling asleep or waking up, and vivid hallucinations during sleep transitions. Other common symptoms include disrupted nighttime sleep with frequent awakenings, automatic behaviors where you continue activities without conscious awareness, and difficulty concentrating or remembering things due to constant fatigue.

Question 6

Who is at risk for narcolepsy?

Accepted Answer

People who carry specific HLA gene variants, particularly HLA-DRB1*15:01 and HLA-DQB1*06:02, have a significantly increased risk of developing narcolepsy. The condition typically appears between ages 10 and 30, though it can develop at any age. Family history increases risk, as first-degree relatives of people with narcolepsy have a 1-2% chance of developing the condition compared to 0.02% in the general population. Other risk factors include brain injuries, infections, autoimmune conditions, and sudden changes in sleep patterns or stress levels that may trigger symptom onset in genetically susceptible individuals.

Question 7

What happens if narcolepsy is left untreated?

Accepted Answer

Untreated narcolepsy significantly impacts quality of life and safety, leading to dangerous situations like falling asleep while driving, operating machinery, or during other critical activities. You may experience serious relationship problems, job loss, social isolation, and depression due to misunderstanding from others who perceive excessive sleepiness as laziness. Academic and work performance suffers dramatically, and the constant fatigue can lead to obesity from reduced physical activity and metabolic changes. Long-term untreated narcolepsy increases the risk of other health conditions including cardiovascular problems, diabetes, and mental health disorders, making early diagnosis and treatment essential for maintaining safety and quality of life.

Question 8

Can narcolepsy be diagnosed with a blood test?

Accepted Answer

Narcolepsy cannot be definitively diagnosed with blood tests alone, but genetic blood testing plays an important supporting role in the diagnostic process. HLA genetic tests identify specific gene variants that increase narcolepsy risk and help confirm clinical suspicions when combined with symptoms and sleep study results. The primary diagnostic tools remain the Multiple Sleep Latency Test (MSLT) and overnight polysomnography, which measure how quickly you fall asleep and analyze your sleep patterns. Some specialized labs can measure hypocretin levels in cerebrospinal fluid obtained through a lumbar puncture, which is more invasive than blood testing but provides more direct diagnostic information about the neurological cause of narcolepsy.

Question 9

How is narcolepsy treated?

Accepted Answer

Narcolepsy is treated with a combination of medications and lifestyle modifications to manage symptoms and improve quality of life. Stimulant medications like modafinil or armodafinil help control excessive daytime sleepiness, while sodium oxybate treats both sleepiness and cataplexy. Antidepressants may be prescribed to reduce cataplexy, sleep paralysis, and hallucinations. Lifestyle strategies include maintaining a regular sleep schedule with 7-8 hours of nighttime sleep, taking scheduled 15-20 minute naps during the day, avoiding caffeine and alcohol close to bedtime, and exercising regularly. Working with your employer or school to accommodate your condition and joining support groups can also help you manage the social and emotional aspects of living with narcolepsy.

Question 10

How can I prevent narcolepsy?

Accepted Answer

Narcolepsy cannot be prevented because it results from genetic predisposition and the loss of hypocretin-producing brain cells, which is beyond individual control. However, knowing your genetic risk through HLA testing allows for early recognition of symptoms and prompt diagnosis if they develop. You can potentially reduce the severity of symptoms by maintaining excellent sleep hygiene, avoiding sleep deprivation, managing stress effectively, and treating infections promptly. If you have a family history of narcolepsy or carry high-risk genetic markers, being aware of early warning signs like excessive daytime sleepiness allows you to seek medical evaluation quickly, leading to earlier treatment and better management of the condition.

Question 11

What can I do at home for narcolepsy?

Accepted Answer

At home, you can manage narcolepsy symptoms by establishing a consistent sleep schedule with the same bedtime and wake time every day, even on weekends. Schedule 1-3 short naps of 15-20 minutes during the day at regular times to help control sleepiness. Create a cool, dark, quiet bedroom environment free from distractions, and avoid heavy meals, caffeine, and alcohol within 2-3 hours of bedtime. Regular exercise during the day helps improve nighttime sleep quality, but avoid vigorous activity close to bedtime. Keep a symptom diary to track sleep patterns, triggers for cataplexy, and effectiveness of strategies, which helps you and your doctor optimize your treatment plan.

Question 12

How’s this work?

Accepted Answer

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Question 13

How do I know which test to get?

Accepted Answer

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Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
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Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

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Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
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Question 17

Can I cancel my order?

Accepted Answer

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Question 18

How can I find a lab location near me?

Accepted Answer

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Narcolepsy Blood Test

What is Narcolepsy?

What causes narcolepsy?

What is the best test for narcolepsy?

When should I get tested for narcolepsy?

References

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