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CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4 NGS Genetic Test

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CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4 NGS Genetic Test

Short Name: CHRNA2 Epilepsy NGS Test

Also known as: ADNFLE type 4, NFLE type 4, ENFL4, CHRNA2-related epilepsy

CHRNA2 Gene Epilepsy, nocturnal frontal lobe type 4 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Reports are generally delivered within 3 to 4 weeks after the sample is received at the laboratory.. 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 identify pathogenic or likely pathogenic variants in the CHRNA2 gene in people with clinical suspicion of nocturnal frontal lobe epilepsy type 4, and to provide information that can support diagnosis, family counselling and risk assessment.

Test Code
4090
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are generally delivered within 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required for this genetic test. Fasting is not required. The patient may continue regular medicines unless the treating doctor advises otherwise. A pre-test genetic counselling session is strongly recommended. The sample may be maintained at ambient room temperature during transport.

Method: Blood collection by trained phlebotomist or FTA card spot collection

Step 2

Laboratory Analysis

A small blood sample is collected by venipuncture. Alternatively, one drop of blood can be applied to an FTA card. The process is quick and involves minimal discomfort.

Step 3

Report Delivery

No restrictions are required after sample collection. The patient can resume normal daily activities. Reports are expected within 3 to 4 weeks.

Timeline: Reports are generally delivered within 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. The treating doctor or genetic counsellor will explain the purpose, possible outcomes, benefits and limitations of the test. An informed consent process is recommended.
2
During the Test:The sample is collected either as a blood draw or as an FTA card blood spot. The patient may be asked to confirm identity and provide relevant clinical history.
3
After the Test:After the report is issued, a post-test genetic counselling session is recommended to understand the result and its implications for the patient and family members.

About This Test

Who Should Get This Test

To identify pathogenic or likely pathogenic variants in the CHRNA2 gene in people with clinical suspicion of nocturnal frontal lobe epilepsy type 4, and to provide information that can support diagnosis, family counselling and risk assessment.

How to Prepare

  • Use an EDTA vacutainer for whole blood collection.
  • For FTA card collection, apply one drop of blood and allow the spot to dry completely before packing.
  • If sending extracted DNA, ensure it is stored in a DNase/RNase-free sealed tube.
  • Label the sample tube or FTA card clearly with the patient name, date of birth, collection date and unique ID.
  • Transport the sample to the laboratory at ambient temperature or refrigerated as per instructions provided at booking.

Doctor's Notes

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

"This test should be ordered after careful clinical evaluation by a neurologist. Sleep-related seizures can mimic other parasomnias, so clinical history, video-EEG and MRI brain findings remain essential. Genetic results are most useful when interpreted in the context of the full clinical picture and with genetic counselling."

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 whole blood or one drop blood on FTA card
ContainerEDTA vacutainer / FTA card / DNase-free tube for extracted DNA
Collection MethodBlood collection by trained phlebotomist or FTA card spot collection

Sample Stability

Whole blood in EDTA at room temperature
Whole blood in EDTA stored refrigerated (2 to 8°C)
Extracted DNA frozen at -20°C
FTA blood card at ambient temperature
Sample Rejection Criteria:
  • Haemolysed or visibly clotted blood sample
  • Insufficient quantity of blood or extracted DNA
  • Improperly labelled or unlabeled sample
  • Sample received in a wrong anticoagulant tube
  • Leaked, damaged or contaminated sample during transport

Understanding Your Results

The CHRNA2 gene provides instructions for the alpha-2 subunit of the neuronal nicotinic acetylcholine receptor. Pathogenic variants in CHRNA2 have been reported in rare families with nocturnal frontal lobe epilepsy. Detection of a known or likely pathogenic variant in a symptomatic individual supports the clinical diagnosis and enables testing of at-risk relatives. Absence of a detectable variant does not exclude the clinical diagnosis.
Positive result: A pathogenic or likely pathogenic CHRNA2 variant was identified. This supports the clinical diagnosis. Genetic counselling and family testing should be discussed.
Negative result: No pathogenic or likely pathogenic CHRNA2 variant was detected. Clinical diagnosis continues to rely on neurological history, EEG and imaging.
Variant of uncertain significance: A genetic change of unclear clinical significance was found. Additional family segregation studies may be required to clarify its role.
Uninformative result: The test was technically unsuccessful or the sample could not provide a result. A repeat sample may be requested.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if the patient has recurrent sleep-related seizures, abnormal nocturnal movements, or a family history of nocturnal frontal lobe epilepsy. Also consult after receiving a positive, negative or uncertain genetic test result, especially if family planning decisions are being considered.

Limitations

  • ⚠This test analyses only the CHRNA2 gene and does not detect variants in other epilepsy-related genes.
  • ⚠Standard NGS may not reliably detect large gene rearrangements, deep intronic variants or changes in methylation pattern.
  • ⚠A negative result does not rule out a genetic cause of epilepsy.
  • ⚠A variant of uncertain significance may require additional family studies or later reclassification.
  • ⚠Test interpretation may change as new scientific evidence becomes available.

Risks & Considerations

  • ●No significant medical risks are associated with a blood draw.
  • ●Possible anxiety while waiting for results.
  • ●Psychological impact of a positive or uncertain genetic result.
  • ●Genetic results may have implications for biological family members.

Interfering Factors

  • ●Poor DNA quality or degradation due to improper transport
  • ●Contamination during sample processing
  • ●Incorrect or ambiguous sample labelling
  • ●Incomplete clinical information limiting variant interpretation

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Frequently Asked Questions

What is the CHRNA2 gene epilepsy, nocturnal frontal lobe type 4 NGS Genetic Test?
This is a targeted next-generation sequencing test that examines the CHRNA2 gene for mutations linked to nocturnal frontal lobe epilepsy type 4 (ENFL4). It helps clarify whether a patient with sleep-related seizures carries a disease-associated variant.
What is nocturnal frontal lobe epilepsy type 4?
Nocturnal frontal lobe epilepsy type 4 is a rare epilepsy syndrome characterised by seizures that arise from the frontal lobe during sleep. Abnormal movements, vocalisations, tonic posturing and sudden arousals may occur. Mutations in the CHRNA2 gene are one recognised genetic cause.
What sample is needed for this test?
Blood, extracted DNA, or one drop of blood on an FTA card is accepted. The preferred sample is 2 to 3 ml whole blood in an EDTA tube.
Is fasting required for this test?
No, fasting is not required for this genetic test. The patient can follow a regular diet and continue prescribed medicines unless the treating doctor advises otherwise.
How is NGS different from routine molecular tests?
NGS can sequence the coding regions and flanking splice sites of CHRNA2 in a high-throughput manner. It is well suited for detecting small sequence variants when a single gene is strongly suspected.
What does a positive result mean?
A positive result indicates detection of a pathogenic or likely pathogenic variant in the CHRNA2 gene. This supports the clinical diagnosis and clarifies the genetic basis of epilepsy in the family. Genetic counselling is strongly recommended.
What does a negative result mean?
A negative result means no pathogenic or likely pathogenic CHRNA2 variant was detected. It does not completely rule out epilepsy or a genetic cause because variants in other genes or certain types of mutations may still exist.
Can this test identify all genetic causes of nocturnal frontal lobe epilepsy?
No. This test is limited to the CHRNA2 gene. Other genes such as CHRNA4, CHRNB2 and KCNT1 may also be associated with sleep-related frontal lobe epilepsy. A broader epilepsy gene panel may be considered when the clinical picture is not CHRNA2-specific.
Who should undergo this test?
It may be considered in individuals with sleep-related seizures, paroxysmal motor arousals, or dystonic/dyskinetic episodes during sleep, especially with a family history suggestive of autosomal dominant nocturnal frontal lobe epilepsy. Clinical evaluation by a neurologist and genetic counselling are essential.
How long does it take to get reports?
Reports are usually available within 3 to 4 weeks from the date the sample is received at the laboratory.
What is the cost of the test?
The special price for this test at DNA Labs India is Rs 20,000. Free home sample collection is offered for online bookings in many Indian cities.
Do I need genetic counselling before and after testing?
Yes. Pre-test genetic counselling helps set expectations and obtain informed consent. Post-test counselling is important to interpret the result, discuss implications for family members and guide further management.
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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