Skip to main content
DNA Labs India

KCNQ2 Gene Seizures, benign neonatal, type 1 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KCNQ2 Gene Seizures, benign neonatal, type 1 NGS Genetic Test

Short Name: KCNQ2 Gene Seizures NGS

Also known as: KCNQ2 Gene Seizures NGS Genetic Test, Benign Familial Neonatal Seizures Type 1 Genetic Test, KCNQ2 Mutation Analysis, Self-Limited Familial Neonatal Epilepsy Genetic Test

KCNQ2 Gene Seizures, benign neonatal, type 1 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 The clinical report is usually delivered in 3 to 4 weeks after the laboratory receives an acceptable sample.. Free home collection in 300+ cities across India.

NGS Genetic TestNeonates, Infants, Children, Adults🏠 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

The purpose of this test is to detect disease-causing variants in the KCNQ2 gene to confirm a diagnosis of benign neonatal seizures type 1 (self-limited neonatal epilepsy). It helps to differentiate KCNQ2-related epilepsy from other neonatal seizure disorders and provides information about recurrence risk for family members.

Test Code
4497
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The clinical report is usually delivered in 3 to 4 weeks after the laboratory receives an acceptable sample.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or medication changes are required. A genetic counselling session may be arranged to draw a family pedigree and discuss the clinical implications of the test. Please carry any available medical records or previous EEG reports.

Method: Peripheral blood draw / dried blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect venous blood in an EDTA vacutainer or prepare an FTA dried blood spot. The procedure is quick and generally takes less than five minutes.

Step 3

Report Delivery

No restrictions are required after sample collection. The sample should be transported to the laboratory as per the provided instructions.

Timeline: The clinical report is usually delivered in 3 to 4 weeks after the laboratory receives an acceptable sample.

Patient Instructions

1
Before the Test:No special preparation is needed. However, confirmation of clinical indication by a treating neurologist or geneticist is required.
2
During the Test:A sample of blood is drawn from a vein. For FTA cards, a drop of blood from a heel prick or finger prick may be used. The process is quick and minimally invasive.
3
After the Test:You may resume all normal activities. Results will be shared on the provided contact details and available on the online portal.

About This Test

Who Should Get This Test

The purpose of this test is to detect disease-causing variants in the KCNQ2 gene to confirm a diagnosis of benign neonatal seizures type 1 (self-limited neonatal epilepsy). It helps to differentiate KCNQ2-related epilepsy from other neonatal seizure disorders and provides information about recurrence risk for family members.

How to Prepare

  • Ensure the sample tube or FTA card is clearly labelled with the patient's full name and date of birth.
  • For blood collection, use a sterile EDTA vacutainer.
  • For FTA card, apply one drop of blood to each pre-printed circle and allow to dry completely.
  • Store and transport the sample at ambient room temperature unless otherwise instructed.
  • Inform the laboratory about any history of bone marrow transplant or blood transfusion, if relevant.

Doctor's Notes

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

"Genetic testing for KCNQ2 variants helps families understand the cause of neonatal seizures and enables focused genetic counselling. We recommend that results be interpreted along with EEG and clinical phenotype."

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 peripheral blood / 5-10 µl whole blood on FTA card
ContainerEDTA vacutainer / FTA card
Collection MethodPeripheral blood draw / dried blood spot on FTA card

Sample Stability

Whole blood EDTA: up to 72 hours at 2-8°C
FTA dried blood spot: stable for several weeks at ambient temperature
Extracted DNA: stable for months at -20°C
Sample Rejection Criteria:
  • Unlabelled or mismatched sample
  • Clotted, haemolysed, or severely degraded blood sample
  • Insufficient quantity of blood or DNA
  • Leaking container during transport
  • Sample received outside the acceptable transport window

Understanding Your Results

The interpretation of KCNQ2 gene NGS results must be performed by a clinical geneticist or genetic counsellor. The result is considered alongside the patient's clinical phenotype, EEG findings, and family history.
Pathogenic/Likely pathogenic variant detected: Indicates a molecular diagnosis of KCNQ2-related self-limited neonatal epilepsy. Clinical correlation and multidisciplinary management are recommended.
No pathogenic variant detected: Does not exclude KCNQ2-related epilepsy. Other genetic and non-genetic causes should be considered based on clinical presentation.
Variant of uncertain significance (VUS) identified: Additional family segregation testing, further gene-specific studies, and correlation with clinical phenotype are recommended before concluding diagnosis.
All reports should be discussed in a genetic counselling session to review recurrence risks and implications for family members.
⚠️ When to Consult a Doctor:

If a newborn or infant develops recurrent jerking, apnoea, cyanotic episodes, or loss of consciousness, seek immediate neurological consultation. If a KCNQ2 variant is found, discuss the clinical management and genetic counselling options with a paediatric neurologist or clinical geneticist.

Limitations

  • ⚠NGS may not reliably detect large exon-level deletions or duplications unless CNV analysis is performed.
  • ⚠Variants in non-coding regulatory regions, mitochondrial DNA, or other epilepsy genes may not be detected by this targeted test.
  • ⚠A variant of uncertain significance (VUS) may be reported, providing neither a definitive diagnosis nor a normal result.
  • ⚠The absence of a pathogenic KCNQ2 variant does not exclude all genetic and non-genetic causes of neonatal seizures.

Risks & Considerations

  • ●No significant medical risks are associated with blood collection. Some patients may experience mild bruising or dizziness at the collection site.

Interfering Factors

  • ●Allogeneic bone marrow transplant can cause donor-derived DNA in blood, interfering with germline genetic testing.
  • ●Sample degradation due to prolonged exposure to heat or humidity may reduce DNA quality.
  • ●Contamination of the sample with another person's DNA can affect test accuracy.
  • ●Some variants in certain genetic backgrounds may be difficult to sequence, such as GC-rich regions.
  • ●Variant classification may be updated as new evidence emerges.

Compare With Similar Tests

TestKCNQ2 Gene Seizures, benign neonatal, type 1 NGS Genetic TestKCNQ2 Targeted NGS Genetic TestBroad Epilepsy NGS Panel
ComparisonKCNQ2 Gene Seizures, benign neonatal, type 1 NGS Genetic Test

Frequently Asked Questions

What is benign neonatal seizures type 1?
Benign neonatal seizures type 1, also called KCNQ2-related self-limited familial neonatal epilepsy, is a genetic epilepsy syndrome that usually begins in the first week of life and often resolves within several weeks. It is caused by pathogenic variants in the KCNQ2 gene, which encodes the Kv7.2 potassium channel.
What are the symptoms of KCNQ2 gene seizures?
Patients commonly have focal clonic or tonic seizures, apneic spells, staring, cyanosis and transient unresponsiveness. Between seizures, babies often appear healthy. Most have normal neurodevelopment, though some variants can cause later epilepsy or developmental delay.
How is the KCNQ2 NGS genetic test performed?
The test is done on a small blood sample or FTA dried blood spot. DNA is extracted, the KCNQ2 gene is enriched and sequenced using next-generation sequencing, and variants are interpreted according to ACMG guidelines.
What is the cost of the KCNQ2 gene seizures NGS genetic test in India?
The test costs INR 20,000. DNA Labs India offers free home sample collection in many cities across India for online bookings.
Is fasting required for this test?
No, fasting is not required. Medicines should not be stopped without medical advice.
When can family members undergo testing?
If a pathogenic KCNQ2 variant is found, parents and at-risk family members can be offered targeted testing for the family-specific variant after genetic counselling to determine recurrence risk.
Will the genetic test predict whether seizures will recur?
The genetic result alone cannot predict exact prognosis. The clinician combines seizure semiology, EEG findings, developmental progress and variant classification to guide management.
Is this genetic test covered by insurance?
Coverage varies. Government schemes like PMJAY, CGHS, ECHS and ESIC typically do not list this specific genetic test. Private insurance may cover part of the cost based on policy and prescription. Please check with your insurer.
What does 'benign' mean in benign neonatal seizures?
'Benign' is an older term and means most affected babies outgrow seizures without long-term epilepsy. Because occasional later epilepsy or developmental issues can occur, the current terminology uses 'self-limited neonatal epilepsy'.
Can NGS detect all genetic causes of neonatal seizures?
No. This test investigates only the KCNQ2 gene. A broader epilepsy NGS panel or chromosomal analysis may be required if KCNQ2 testing is negative or if the clinical picture suggests another cause.
How long does it take to get the report?
Reports are usually issued in 3 to 4 weeks. The clinical report is provided along with raw data files (FASTQ, VCF) on request.
What is a variant of uncertain significance (VUS)?
A variant of uncertain significance means the laboratory found a DNA change but it is not yet known whether it causes disease. Further family segregation testing and additional clinical information may help reclassify the variant in the future.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.