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CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic Test

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CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic Test

Short Name: CHRNA4 NGS Genetic Test

Also known as: ADNFLE, Autosomal dominant nocturnal frontal lobe epilepsy, CHRNA4-related epilepsy, NFLE1

CHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing validation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports will be available within 3 to 4 weeks from the date of sample receipt. A genetic counselor will discuss the results and guide you on the next steps.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect mutations in the CHRNA4 gene associated with Nocturnal Frontal Lobe Epilepsy Type 1, confirm a clinical diagnosis, and enable genetic counseling and risk assessment for family members.

Test Code
4081
CPT Code
81479
ICD Code
G40.0
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be available within 3 to 4 weeks from the date of sample receipt. A genetic counselor will discuss the results and guide you on the next steps.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger sequencing validation
Step 1

Sample Collection

No fasting required. No special preparation needed. Patients should bring any prior medical records or reports related to epilepsy or neurological evaluation.

Method: Peripheral venipuncture or FTA card spot

Step 2

Laboratory Analysis

A standard blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be spotted onto the card and allowed to dry.

Step 3

Report Delivery

No restrictions. Patients can resume normal activities immediately.

Timeline: Reports will be available within 3 to 4 weeks from the date of sample receipt. A genetic counselor will discuss the results and guide you on the next steps.

Patient Instructions

1
Before the Test:No special preparation is required. Patients should engage in genetic counseling to understand the scope, implications, and possible outcomes of the test.
2
During the Test:A blood sample will be collected from a vein in your arm. The procedure takes about 5 minutes. Some patients may feel a slight sting during the blood draw.
3
After the Test:You can go home immediately after the test. There are no activity restrictions. Minor bruising at the puncture site is possible and resolves quickly.

About This Test

Who Should Get This Test

To detect mutations in the CHRNA4 gene associated with Nocturnal Frontal Lobe Epilepsy Type 1, confirm a clinical diagnosis, and enable genetic counseling and risk assessment for family members.

How to Prepare

  • No fasting is required.
  • Please ensure the sample is collected in an EDTA vacutainer for whole blood.
  • If using FTA card, ensure the blood spots are completely dried before placing in the provided sealable bag.
  • Label the sample with patient's name and date of birth.
  • Maintain sample at ambient temperature if shipping on the same day.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for CHRNA4 mutations is essential for confirming the diagnosis of nocturnal frontal lobe epilepsy type 1. It helps identify at-risk family members and guides genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL blood or as required
ContainerEDTA tube or FTA card
Collection MethodPeripheral venipuncture or FTA card spot

Sample Stability

Whole blood at room temperature: 24 hours
Whole blood at 2-8°C: up to 7 days
FTA card with desiccant at room temperature: several months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Frozen whole blood (unless specified for DNA extraction)
  • Unlabeled or mismatched sample
  • Leaking or contaminated specimen

Understanding Your Results

This is a diagnostic genetic test. A positive result indicates the presence of a pathogenic mutation in the CHRNA4 gene, confirming the diagnosis of nocturnal frontal lobe epilepsy type 1. A negative result does not rule out CHRNA4-related epilepsy, as non-coding or structural variants may not be detected by standard NGS.
📊

Positive (pathogenic mutation detected)

A disease-causing mutation in CHRNA4 gene has been identified. This confirms the genetic basis of the patient's epilepsy. Predictive testing for at-risk family members is recommended.

📊

Negative (no pathogenic mutation detected)

No disease-causing mutation was found in the CHRNA4 gene. This reduces the likelihood of CHRNA4-related NFLE1 but does not exclude other genetic or acquired causes of epilepsy.

📊

Variant of uncertain significance (VUS)

A genetic variant was identified whose clinical significance is currently unknown. Further family testing and functional studies may be required to determine its role.

⚠️ When to Consult a Doctor:

If you experience recurrent nocturnal seizures, sudden arousals with motor activity, or have a family history of autosomal dominant nocturnal frontal lobe epilepsy, consult a neurologist or genetic specialist to discuss genetic testing.

Limitations

  • ⚠NGS may not detect large gene deletions, duplications, or rearrangements unless specialized analysis is performed.
  • ⚠Variants in regulatory regions not covered by standard sequencing may not be identified.
  • ⚠A negative result does not exclude a genetic cause due to mutations in other genes or non-genetic etiologies.
  • ⚠Results should be interpreted in the context of clinical and family history.

Risks & Considerations

  • ●Slight pain or bruising at the site of blood collection
  • ●Very small risk of infection, as with any blood draw

Interfering Factors

  • ●Sample contamination with another individual's DNA
  • ●Extensive degradation of DNA in the sample
  • ●Rare sequence variants that affect alignment or cause low coverage
  • ●Hematological malignancies with clonal hematopoiesis may interfere with germline testing

Compare With Similar Tests

TestCHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic TestSingle-gene NGS (CHRNA4)Epilepsy gene panelWhole exome sequencing
ComparisonCHRNA4 Gene Epilepsy, nocturnal frontal lobe type 1 NGS Genetic Test

Frequently Asked Questions

What is the cost of the CHRNA4 gene epilepsy NGS genetic test?
The cost of the CHRNA4 gene epilepsy nocturnal frontal lobe type 1 NGS genetic test at DNA Labs India is Rs 20000. This includes home sample collection and comprehensive genetic counseling.
What is CHRNA4 gene epilepsy?
CHRNA4 gene epilepsy refers to epilepsy caused by pathogenic mutations in the CHRNA4 gene, which encodes the alpha-4 subunit of the nicotinic acetylcholine receptor. This type of epilepsy is characterized by seizures that predominantly occur during sleep, typically in the first hours of the night.
What are the symptoms of nocturnal frontal lobe epilepsy type 1?
Symptoms include sudden awakening with tonic or dystonic posturing, hyperkinetic movements, confusional arousals, and sometimes loss of consciousness. Seizures often occur in clusters during sleep and may be brief but frequent.
How is the CHRNA4 NGS genetic test performed?
The test is performed on a blood sample or extracted DNA. The laboratory uses next-generation sequencing (NGS) to analyze the entire coding region and splice sites of the CHRNA4 gene for mutations. Clinically significant variants are confirmed by Sanger sequencing.
Is fasting required before this genetic test?
No, fasting is not required for the CHRNA4 gene epilepsy NGS genetic test. You can eat and drink normally before sample collection.
What does a positive result mean?
A positive result means a pathogenic mutation in the CHRNA4 gene was identified. This confirms a genetic diagnosis of nocturnal frontal lobe epilepsy type 1. It also has implications for family members who may want to undergo predictive testing.
What does a negative result mean?
A negative result means no pathogenic mutation was found in the CHRNA4 gene. However, this does not completely rule out CHRNA4-related epilepsy, as other types of variants may not be detected by standard NGS, or the epilepsy could be caused by other genes or environmental factors.
How long does it take to get the report?
The turnaround time for the CHRNA4 gene epilepsy NGS genetic test is typically 3 to 4 weeks from the date the laboratory receives the sample.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across more than 200 cities in India for this test when you book online.
Can this test be done for children?
Yes, this genetic test can be performed for children and adults of any age. However, for minors, parental consent and appropriate genetic counseling are required.
Is genetic counseling necessary before or after the test?
Yes, genetic counseling is an important part of the testing process. It helps patients and families understand the implications of results, including the hereditary nature of the condition and the options available for at-risk relatives.
Are there any risks associated with this test?
The test involves a simple blood draw, which carries minimal risks such as slight pain, bruising, or infection at the puncture site. There are no other significant risks.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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