Lab Test Overview: What to Expect and What Your Results Mean
A blood test that looks for specific genetic mutations linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE), a rare inherited form of epilepsy.
{"ADNFLE is a genetic form of epilepsy that causes seizures during sleep","This test checks for mutations in genes that control brain nerve cell activity","A positive result confirms the diagnosis and helps guide treatment","The test requires a simple blood sample","Family members may also need testing if a mutation is found"}
Key facts at a glance
- LOINC
- 57909-4
- Short code
- ADNFLE
- Synonyms
- ADNFLE gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA tube (Lavender top) - 6 mL draw tube
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- molgen
- CPT
- 81290
- SNOMED
- 373496003
- Specimen volume
- 3-5 mL whole blood
- Stability
- Room temperature: 24 hours; Refrigerated (2-8°C): 72 hours; Frozen (-20°C or below): acceptable for prolonged storage
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 168–504 hours
- Order
- routine
What is this test? This test is a laboratory procedure that measures specific substances in your body to help your doctor check how well your organs are working and look for early signs of illness.
This test looks for mutations (changes) in specific genes associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). ADNFLE is a rare inherited type of epilepsy where seizures occur mainly during sleep. The most commonly tested genes are CHRNA4, CHRNA2, and CHRNB2, which are responsible for making proteins that help control the electrical activity of brain cells.
Why do I need this test? Your doctor may order this test to help diagnose a medical condition, monitor an ongoing health problem, screen for risk factors, or check how well a current treatment is working for you.
Your doctor may recommend this test if you or a family member have symptoms suggesting ADNFLE, such as: brief seizures during sleep, unusual movements during sleep, or a family history of epilepsy. This test helps confirm the diagnosis, distinguish ADNFLE from other types of epilepsy, and determine if family members may be at risk.
What happens during the test? A trained healthcare professional will collect a small sample, such as blood or urine, at a clinic or office. The procedure usually takes only a few minutes and causes little discomfort.
A healthcare professional will draw a small blood sample from a vein in your arm. The blood is then sent to a laboratory where technicians analyze your DNA to look for specific mutations in the genes associated with ADNFLE. The test typically takes a few weeks to complete as specialized genetic testing requires detailed analysis.
What do the results mean? Your results will show whether your values fall within the normal range. Your doctor will explain what the numbers mean for your overall health and discuss any follow-up testing or treatment options with you.
A positive result means a mutation was found in one of the ADNFLE-related genes, confirming a genetic diagnosis. This can help your doctor choose the most appropriate treatment. A negative result means no known mutation was found, but it does not completely rule out epilepsy—it may mean you have a different form or an unknown genetic cause. Your doctor will interpret your results in the context of your symptoms and medical history.
Reference range
No ADNFLE gene mutations detected (Negative)N/A
No special preparation required. Inform laboratory of any recent blood transfusions as this may affect results. Provide family history of epilepsy or seizure disorders.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Frequently asked questions
Is this test painful?
Will my insurance cover this genetic test?
Do I need to fast before this test?
Should my family members also get tested?
Can this test predict if I will develop seizures?
Sources
- 1
- 2
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy