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KCNB1 Gene Early infantile epileptic encephalopathy type 26 NGS Genetic Test

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KCNB1 Gene Early infantile epileptic encephalopathy type 26 NGS Genetic Test

Short Name: KCNB1 Gene EIEE26 NGS Test

Also known as: EIEE26 Genetic Test, KCNB1 Gene Mutation Test, KCNB1 NGS Test

KCNB1 Gene Early infantile epileptic encephalopathy type 26 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 delivered in 3 to 4 weeks from the date of sample receipt at the laboratory. Updates are provided through email or WhatsApp.. Free home collection in 300+ cities across India.

NGS Genetic TestInfants, Children, and 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 NGS genetic test is to detect pathogenic variants in the KCNB1 gene that are responsible for Early Infantile Epileptic Encephalopathy Type 26. The test helps confirm a clinical diagnosis, differentiate EIEE26 from other epileptic encephalopathies, and support early management and genetic counseling.

Test Code
4024
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks from the date of sample receipt at the laboratory. Updates are provided through email or WhatsApp.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Patients may eat and drink normally before the test. If the patient is an infant, regular feeding can be continued.

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

Step 2

Laboratory Analysis

A small volume of venous blood will be collected by a trained phlebotomist. Alternatively, a single drop of blood may be collected on an FTA card from a heel prick in neonates.

Step 3

Report Delivery

No restrictions following collection. The sample will be transported to the laboratory under recommended conditions. Patients can resume daily routines immediately.

Timeline: Reports are delivered in 3 to 4 weeks from the date of sample receipt at the laboratory. Updates are provided through email or WhatsApp.

Patient Instructions

1
Before the Test:Pretest genetic counseling is recommended to discuss the purpose, limitations, and potential outcomes of the test. A clinical family history will be taken to draw a pedigree chart.
2
During the Test:The test involves NGS analysis of the KCNB1 gene on the provided sample. DNA is extracted, enriched for relevant regions, and sequenced with high accuracy.
3
After the Test:Post-test genetic counseling will explain the results in detail. The clinician will discuss the implications for patient management, treatment options, and implications for family members.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the KCNB1 gene that are responsible for Early Infantile Epileptic Encephalopathy Type 26. The test helps confirm a clinical diagnosis, differentiate EIEE26 from other epileptic encephalopathies, and support early management and genetic counseling.

How to Prepare

  • Use EDTA vacutainer for blood collection
  • For FTA card, ensure the blood spot is completely air-dried before packaging
  • Label the sample tube/card with the patient name, date of birth, and collection date
  • Do not freeze FTA card; store at room temperature in a clean plastic bag
  • Ship the sample as per the laboratory courier guidelines

Doctor's Notes

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

"Early genetic diagnosis of EIEE26 provides a definitive explanation for seizures and developmental delays, enabling timely therapeutic intervention and appropriate family planning choices."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeBlood: 5 ml; FTA card: 1 spotted blood drop
ContainerEDTA vacutainer or FTA blood collection card
Collection MethodPeripheral blood draw or dried blood spot on FTA card

Sample Stability

EDTA blood at room temperature24 hours
EDTA blood at 4°C72 hours
FTA card at room temperature6 months
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Improperly labeled or unlabeled samples
  • Leaked or broken containers
  • FTA card with wet blood spot or fungal growth

Understanding Your Results

The test report includes a summary of the NGS evaluation, the status of any detected variants, and a clinically actionable interpretation based on current scientific evidence and ACMG guidelines.
📊

Pathogenic or likely pathogenic variant detected in KCNB1 gene

Confirms the clinical diagnosis of Early Infantile Epileptic Encephalopathy Type 26 (EIEE26). Allows targeted treatment and family counseling.

📊

No pathogenic variant detected in KCNB1 gene

Does not confirm EIEE26. However, the absence of a KCNB1 mutation does not rule out other genetic causes of the patient's epilepsy; additional testing may be considered.

📊

Variant of uncertain significance (VUS) detected

A genetic variant with uncertain clinical significance was identified. Further family segregation studies may help reclassify this variant. Clinicians should correlate with clinical findings.

⚠️ When to Consult a Doctor:

If your child exhibits early seizures, developmental delays, or unexplained neurological signs, consult a pediatric neurologist or a clinical geneticist. Genetic counseling is recommended before and after this test to understand the implications for the patient and family.

Limitations

  • ⚠NGS may not detect deep intronic variants or structural rearrangements that are not covered by the assay
  • ⚠Large deletions/duplications are only detected if the complementary deletion/duplication analysis is included
  • ⚠Variants of uncertain significance (VUS) may be reported and require further family studies
  • ⚠Negative results do not exclude other genetic causes of epilepsy

Risks & Considerations

  • ●Minimal risk of bruising, bleeding, or infection at the venipuncture site
  • ●Risk of emotional stress due to potential findings
  • ●No direct physical risk associated with the genetic test itself

Interfering Factors

  • ●Poor DNA quality or quantity from extracted sample
  • ●Presence of maternal cell contamination in blood samples
  • ●Sample mix-up or mislabeling
  • ●Recent bone marrow transplantation causing mixed DNA profiles

Compare With Similar Tests

TestKCNB1 Gene Early infantile epileptic encephalopathy type 26 NGS Genetic Test
ComparisonKCNB1 Gene Early infantile epileptic encephalopathy type 26 NGS Genetic Test

Frequently Asked Questions

What is the cost of the KCNB1 gene NGS genetic test?
The cost is ?20,000, which includes free home sample collection, NGS genetic analysis, genetic counseling, clinical report, and raw data files.
What is Early Infantile Epileptic Encephalopathy Type 26?
EIEE26 is a rare genetic disorder caused by mutations in the KCNB1 gene, affecting potassium channels in the brain and leading to infantile-onset seizures, developmental delay, and intellectual disability.
How is the KCNB1 gene test performed?
The test uses next-generation sequencing (NGS) to analyze the KCNB1 gene from a blood sample or extracted DNA. The sample is processed in the laboratory, and variants are identified and classified as per ACMG guidelines.
Who should undergo this KCNB1 NGS genetic test?
Infants and children with early-onset seizures, developmental delay, movement disorders, or clinical suspicion of EIEE26. It is also recommended for family members of a known KCNB1 mutation carrier.
What sample is required for the test?
The sample can be venous blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. Blood spots on FTA cards are especially convenient for infants.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks from the date the sample is received at the laboratory.
Is this test covered by insurance?
Insurance coverage varies. It is not typically covered under government schemes; however, patients are advised to check with their private insurers or our representative.
What is the difference between NGS and Sanger sequencing?
NGS can simultaneously sequence multiple genes or regions with high throughput, making it efficient for complex disorders like EIEE26. Sanger sequencing is used for single-gene targeted validation of a specific variant.
What does the test report include?
The report includes the patient's demographic details, the gene analyzed, variant classifications, interpretation, clinical significance, and a statement about the methodology. Additionally, raw data in FASTQ and VCF formats are provided.
Do I need to fast before taking this test?
No. Fasting is not required for this genetic test. You can eat and drink normally before sample collection.
Can this test detect all types of KCNB1 mutations?
The test is designed to detect single nucleotide variants, small insertions/deletions, and with additional analysis, large exon-level deletions/duplications in the KCNB1 gene. However, as with all genetic tests, some rare variant types may not be detected.
What will be the impact of a positive test result?
A positive result (pathogenic variant detected) confirms the diagnosis of EIEE26, which can guide treatment, family counseling, reproductive decisions, and eligibility for precision therapies.
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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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.

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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.

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