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DNA Labs India

HCN2 Gene Epilepsy, HCN2 related NGS Genetic Test

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HCN2 Gene Epilepsy, HCN2 related NGS Genetic Test

Short Name: HCN2 Gene Epilepsy NGS

Also known as: HCN2 epilepsy genetic test, HCN2 mutation analysis, HCN2 NGS sequencing test

HCN2 Gene Epilepsy, HCN2 related 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 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this NGS genetic test is to detect disease-causing variants in the HCN2 gene, confirm a clinical diagnosis of HCN2-related epilepsy, assist in treatment planning, and enable genetic counselling and cascade testing of at-risk family members.

Test Code
4080
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next-generation sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. A genetic counselling session will be conducted either before or after the test to obtain informed consent and a pedigree chart.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A nurse or phlebotomist will collect approximately 5 mL of peripheral venous blood in an EDTA vacutainer. If an FTA card is used, a drop of blood from a finger prick is placed on the card and dried.

Step 3

Report Delivery

There are no activity restrictions. Patients can resume normal daily routine immediately.

Timeline: 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No special preparation is needed. Bring a valid ID and prescription.
2
During the Test:A blood sample is taken; the procedure takes less than 5 minutes.
3
After the Test:No restrictions; results will be shared in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect disease-causing variants in the HCN2 gene, confirm a clinical diagnosis of HCN2-related epilepsy, assist in treatment planning, and enable genetic counselling and cascade testing of at-risk family members.

How to Prepare

  • Verify patient identity
  • Use EDTA anticoagulant for whole blood
  • If FTA card, allow blood spot to dry completely before packaging
  • Label all samples with patient name and date of birth

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"HCN2 gene testing is recommended when epilepsy is suspected to be genetic in origin. Early identification of the causative variant helps guide therapy and family counselling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or 1 drop on FTA card
ContainerEDTA vacutainer or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

EDTA whole blood: 24 hours at room temperature, 72 hours at 2-8°C
Extracted DNA: 1 week at 2-8°C, long-term at -20°C
FTA card: stable for several months at room temperature
Sample Rejection Criteria:
  • Clotted blood sample
  • Haemolysed sample
  • Sample without label or test requisition form
  • Insufficient volume

Understanding Your Results

This test detects variants in the HCN2 gene. Variants are classified as pathogenic, likely pathogenic, uncertain significance, likely benign, or benign according to ACMG/AMP guidelines.
📊

No pathogenic variant detected

No HCN2-related genetic cause identified; other genes may be involved.

📊

Pathogenic variant detected

Confirms genetic aetiology for epilepsy; family screening is recommended.

📊

Variant of uncertain significance (VUS)

Clinical significance is unclear; further functional studies and family analysis may help.

⚠️ When to Consult a Doctor:

If you or a relative have symptoms of epilepsy and are planning genetic testing, consult a neurologist or a clinical geneticist. If a VUS is reported, genetic counselling is strongly advised.

Limitations

  • Only HCN2 gene is examined; other genetic causes may be missed.
  • Large gene rearrangements may not be detected by standard NGS panels.
  • A negative result does not eliminate a genetic cause.
  • Variant of uncertain significance may require segregation analysis.

Risks & Considerations

  • Localised pain at the injection site
  • Bruising or haematoma formation
  • Light-headedness or fainting during blood collection

Interfering Factors

  • Sample degradation due to improper storage
  • Maternal cell contamination in prenatal samples
  • PCR amplification errors
  • Very rare mosaicism may not be detected

Frequently Asked Questions

What is the HCN2 gene and how is it related to epilepsy?
The HCN2 gene provides instructions for making a protein that regulates neuronal excitability. Mutations in HCN2 can disrupt brain cell signalling and cause epileptic seizures.
What symptoms are associated with HCN2 gene epilepsy?
Symptoms include loss of consciousness, convulsions, muscle spasms, staring spells, confusion, memory problems, and in some cases, seizures during sleep.
How is HCN2 gene epilepsy diagnosed?
Diagnosis is based on clinical evaluation, EEG, MRI, and genetic testing to identify HCN2 mutations.
What is the cost of the HCN2 NGS genetic test at DNA Labs India?
The test costs INR 20,000, which includes genetic counselling and interpretation.
What type of sample is needed for this test?
Blood in an EDTA tube, extracted DNA, or a blood spot on an FTA card can be used.
Is fasting required before the test?
No, fasting is not required.
What is the turnaround time for the test report?
Reports are issued within 3 to 4 weeks.
Will I receive the raw data files?
Yes, DNA Labs India provides raw data (FASTQ, VCF) along with the clinical report for transparency.
How is the HCN2 NGS test performed?
The test uses next-generation sequencing technology to read the HCN2 gene and detect pathogenic variants.
Can genetic testing confirm HCN2-related epilepsy?
Yes, if a pathogenic variant is found, it confirms a genetic cause for epilepsy within the HCN2 gene.
Are there any limitations to this test?
This test evaluates only the HCN2 gene; it will not detect mutations in other epilepsy-related genes.
Do I need genetic counselling before the test?
Yes, pre-test genetic counselling is provided to draw a pedigree and explain the benefits and limitations of testing.
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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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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