Skip to main content
DNA Labs India

KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

KCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test

Short Name: KCNQ2 EIEE7 NGS Test

Also known as: EIEE7 Genetic Test, KCNQ2 Epileptic Encephalopathy Test, KCNQ2 Gene Sequencing Test, Early Infantile Epileptic Encephalopathy Panel

KCNQ2 Gene Early infantile epileptic encephalopathy type 7 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 Results are typically delivered within 3 to 4 weeks. Urgent processing may be available upon request for an additional charge.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants & Children🏠 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 NGS genetic test is to detect disease-causing sequence variants in the KCNQ2 gene, confirming a diagnosis of Early Infantile Epileptic Encephalopathy type 7. It also aids in differentiating EIEE7 from other infantile epilepsy syndromes, guiding treatment choices and enabling recurrence risk assessment for families.

Test Code
4042
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Results are typically delivered within 3 to 4 weeks. Urgent processing may be available upon request for an additional charge.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A detailed clinical history and family pedigree should be provided to the genetic counselor prior to testing.

Method: Blood draw or FTA spot

Step 2

Laboratory Analysis

A blood sample is collected from a vein, or a few drops of blood are placed on an FTA card. For infants, a heel prick may be used. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No specific precautions are needed. Patients can resume normal activities immediately after sample collection.

Timeline: Results are typically delivered within 3 to 4 weeks. Urgent processing may be available upon request for an additional charge.

Patient Instructions

1
Before the Test:No fasting required. Discuss the child's seizure history, development, and family history with the genetic counselor. Bring previous EEG reports, MRI scans, and medication records if available.
2
During the Test:The sample collection takes about 5-10 minutes. The genetic counselor will explain the procedure and answer any questions. For infants, parents can hold the child during the blood draw to provide comfort.
3
After the Test:No post-test restrictions. The laboratory will process the sample and provide a detailed molecular report in 3-4 weeks. The treating physician will discuss the results with the family.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect disease-causing sequence variants in the KCNQ2 gene, confirming a diagnosis of Early Infantile Epileptic Encephalopathy type 7. It also aids in differentiating EIEE7 from other infantile epilepsy syndromes, guiding treatment choices and enabling recurrence risk assessment for families.

How to Prepare

  • Ensure the child is sufficiently hydrated before blood draw
  • Use an EDTA tube for liquid blood sample
  • If using FTA card, air-dry the card after spotting and place in the provided envelope
  • Label the sample with the patient's name, date of birth, and collection date

Doctor's Notes

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

"Early diagnosis of KCNQ2-related epilepsy is critical. NGS provides definitive molecular confirmation, enabling targeted therapies and informed family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodBlood draw or FTA spot

Sample Stability

Whole blood (EDTA): 24-48 hours at 2-8°C
Extracted DNA: 1 week at -20°C
FTA card: Several weeks at room temperature in a dry, dark environment
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Sample leaking from the container
  • Sample not labeled or misidentified

Understanding Your Results

The KCNQ2 NGS genetic test analyzes the protein-coding regions and exon-intron boundaries of the KCNQ2 gene for sequence variations. The test report identifies whether a pathogenic, likely pathogenic, benign, or variant of uncertain significance is present.
📊

Positive – Pathogenic variant detected

Confirms clinical diagnosis of EIEE type 7. Genetic counseling is strongly recommended for family planning and management.

📊

Negative – No pathogenic variant detected

Reduces but does not entirely exclude the diagnosis. Other genetic or non-genetic causes should be explored.

📊

Variant of Uncertain Significance (VUS)

A genetic change was found but its clinical significance is unclear. Further studies or family segregation analysis may help classify it.

⚠️ When to Consult a Doctor:

Consult a pediatric neurologist or clinical geneticist if your infant presents with recurrent seizures, developmental regression, or abnormal muscle tone. Genetic testing is recommended after clinical evaluation.

Limitations

  • ⚠NGS may not detect large deletions/duplications, deep intronic variants, or repeat expansions
  • ⚠Variants of uncertain significance (VUS) may require additional family testing
  • ⚠This test does not sequence the entire genome; only KCNQ2 gene and targeted regions are analyzed
  • ⚠Negative result does not completely rule out EIEE7, as mutations may be missed by current technology

Risks & Considerations

  • ●Minimal risk of bleeding, swelling, or infection at the blood collection site
  • ●No radiation, sedation, or significant adverse effects involved
  • ●Possible emotional distress after receiving results; genetic counseling is available

Interfering Factors

  • ●Low-quality or degraded DNA
  • ●Sample contamination
  • ●Suboptimal NGS coverage of the KCNQ2 gene
  • ●Presence of pseudogenes or homologous sequences

Compare With Similar Tests

TestKCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test
ComparisonKCNQ2 Gene Early infantile epileptic encephalopathy type 7 NGS Genetic Test

Frequently Asked Questions

What is the KCNQ2 gene?
The KCNQ2 gene provides instructions for making the Kv7.2 potassium channel protein, which regulates potassium ion flow across cell membranes in the brain. Mutations in this gene disrupt electrical activity, leading to seizures and neurological impairment.
What is Early Infantile Epileptic Encephalopathy type 7?
EIEE type 7, or KCNQ2-related epileptic encephalopathy, is a severe early-onset epilepsy syndrome characterized by frequent, often drug-resistant seizures, developmental delay, intellectual disability, and abnormal EEG findings, typically presenting in the first weeks of life.
Who should get the KCNQ2 NGS genetic test?
Infants or children with suspected early infantile epileptic encephalopathy, unexplained seizures with developmental regression, or a family history of KCNQ2-related conditions may benefit from this test. It is commonly recommended by pediatric neurologists or geneticists.
How is the test performed?
The test requires a small blood sample, extracted DNA, or a few drops of blood on an FTA card. The sample is sent to the laboratory where Next Generation Sequencing (NGS) is used to analyze the KCNQ2 gene for pathogenic variants.
What is the cost of the KCNQ2 NGS genetic test at DNA Labs India?
The test costs Rs 20,000. This includes the NGS analysis, clinical interpretation, and access to raw data files (FASTQ, VCF) along with the test report. Home sample collection is free for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after the sample reaches the laboratory. The turnaround time may vary depending on sequence complexity and logistics.
Is fasting required for this test?
No, fasting is not required for the KCNQ2 NGS genetic test. However, it is important to provide the child's detailed medical and seizure history to the attending doctor or genetic counselor before testing.
What do the results of this test mean?
A positive result indicates a pathogenic variant in KCNQ2 confirming EIEE7. A negative result suggests no detectable variant in the screened regions. A VUS result needs additional analysis. Your doctor or genetic counselor will explain the findings in detail.
Can this test be done during pregnancy?
Prenatal testing for KCNQ2 variants can be performed via CVS or amniocentesis when there is a known family mutation, but this NGS test is primarily intended for affected children. For prenatal scenarios, consult a genetic specialist for appropriate testing options.
Are there any risks involved?
The test involves a simple blood draw or FTA card spot, which carries minimal risks such as slight bruising or infection. There are no radiation hazards or significant adverse effects.
Does health insurance cover the cost of this test?
Insurance coverage varies depending on the policy and scheme. Many private insurance plans do not cover genetic tests; however, some government schemes may provide partial coverage. We recommend contacting your insurer or checking with DNA Labs India for billing assistance.
Why should I choose DNA Labs India for this test?
DNA Labs India is NABL-accredited and ISO-certified, providing advanced NGS technology, transparent reporting, and a unique policy of sharing raw data (FASTQ and VCF files). We offer free home sample collection across over 200 Indian cities, with dedicated genetic counseling support.
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.