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KCNQ3 Gene Seizures, benign neonatal, type 2 NGS Genetic Test

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KCNQ3 Gene Seizures, benign neonatal, type 2 NGS Genetic Test

Short Name: KCNQ3 NGS Genetic Test

Also known as: KCNQ3 Gene Mutation Analysis, Benign Neonatal Seizures Type 2 Genetic Test, KCNQ3 Next Generation Sequencing

KCNQ3 Gene Seizures, benign neonatal, type 2 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 typically available in 3 to 4 weeks after the laboratory receives the sample. A detailed clinical and genetic summary will be included.. Free home collection in 300+ cities across India.

NGS Genetic TestNeonates and Infants🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

The purpose of this NGS genetic test is to identify a disease-causing variant in the KCNQ3 gene in infants presenting with neonatal seizures. This helps to confirm the clinical diagnosis of benign neonatal seizures type 2, provide prognostic information, guide clinical management, and offer accurate recurrence-risk counseling for the family.

Test Code
4506
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically available in 3 to 4 weeks after the laboratory receives the sample. A detailed clinical and genetic summary will be included.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. A genetic counselling session is recommended to draw a pedigree chart of family members affected with KCNQ3 Gene Seizures, benign neonatal, type 2. Please bring any prior medical records and imaging reports.

Method: Blood draw / FTA card blood spot

Step 2

Laboratory Analysis

For infants, a small blood sample is taken from a vein using a sterile needle, or a heel/finger prick may be used for FTA card collection. The procedure is quick and produces minimal discomfort.

Step 3

Report Delivery

You or your baby may resume normal activities immediately after sample collection. If an FTA card is used, follow the laboratory’s specific drying and packing instructions before transport.

Timeline: Reports are typically available in 3 to 4 weeks after the laboratory receives the sample. A detailed clinical and genetic summary will be included.

Patient Instructions

1
Before the Test:No special preparation is required. A genetic counseling session is recommended to draw a pedigree chart of family members affected with KCNQ3 Gene Seizures, benign neonatal, type 2.
2
During the Test:A small blood sample is collected from the infant. For FTA card samples, a drop of blood is applied to the card and allowed to air dry.
3
After the Test:No restrictive precautions are needed. The sample is sent to the laboratory for NGS analysis. Reports will be shared within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify a disease-causing variant in the KCNQ3 gene in infants presenting with neonatal seizures. This helps to confirm the clinical diagnosis of benign neonatal seizures type 2, provide prognostic information, guide clinical management, and offer accurate recurrence-risk counseling for the family.

How to Prepare

  • For blood sample: collect in an EDTA tube to prevent clotting
  • For FTA card: apply one drop of blood on the FTA card and air dry completely
  • Label the sample with patient name, DOB, date and time of collection
  • Transport the sample to the laboratory at ambient temperature unless otherwise advised

Doctor's Notes

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

"Genetic testing for KCNQ3-associated seizures is recommended in early infancy to confirm clinical suspicion and guide family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per collection method
ContainerEDTA vacutainer (blood) or FTA card
Collection MethodBlood draw / FTA card blood spot

Sample Stability

Blood in EDTA: stable for 48 hours at 2-8°C
FTA card blood spot: stable for several months at room temperature
Extracted DNA: stable for at least 1 year at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled or unlabeled sample
  • Sample received in a broken or leaking container
  • FTA card not dried or contaminated
  • Inadequate sample volume

Understanding Your Results

The test result will be interpreted by a clinical geneticist. The report will classify any identified variants according to internationally accepted ACMG guidelines and provide a clinical summary.
Pathogenic or likely pathogenic variant detected in KCNQ3: Confirms the clinical diagnosis of benign neonatal seizures type 2. Genetic counseling is recommended.
Variant of uncertain significance (VUS) detected: The clinical significance is unclear. Additional family testing and further evaluation are needed.
No pathogenic variant detected: A genetic cause in the KCNQ3 gene is not found. This does not rule out other genetic or non-genetic causes of seizures.
⚠️ When to Consult a Doctor:

If your infant has recurrent seizures, jerking movements, staring spells, breathing pauses, or feeding difficulties, consult a pediatric neurologist immediately. Early genetic diagnosis can guide treatment and family planning.

Limitations

  • ⚠NGS may not detect large structural rearrangements, deep intronic variants, or repeat expansions unless specifically analyzed
  • ⚠Only the KCNQ3 gene is analyzed; other genetic causes of neonatal seizures may not be identified
  • ⚠A negative result does not exclude a genetic cause in other genes
  • ⚠Variants of uncertain significance require further family studies and clinical correlation

Risks & Considerations

  • ●Mild pain or bruising at the blood collection site
  • ●Minimal risk of infection if proper technique is used
  • ●No serious risks are associated with blood sample collection

Interfering Factors

  • ●Contamination of sample with maternal cells if collected improperly
  • ●Low DNA quantity or quality
  • ●Low-level somatic or germline mosaicism
  • ●DNA degradation due to improper storage or transport
  • ●Recent blood transfusion may affect analysis if whole blood is used

Compare With Similar Tests

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Frequently Asked Questions

What is the KCNQ3 gene seizures NGS genetic test?
This test uses next-generation sequencing to look for mutations in the KCNQ3 gene, which can cause benign neonatal seizures type 2.
What is the cost of the KCNQ3 gene NGS test in India?
The cost is INR 20,000 at DNA Labs India. Home sample collection is available at no extra charge.
When is this test recommended?
It is recommended for infants with recurrent seizures in the first few weeks of life, suspected benign familial neonatal seizures, or a family history of such seizures.
What sample is needed for the KCNQ3 gene test?
Blood (EDTA), extracted DNA, or one drop of blood on an FTA card can be used.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
How long does the test report take?
Reports are generally delivered in 3 to 4 weeks.
Will the test detect all types of KCNQ3 mutations?
NGS detects point mutations, small insertions and deletions. Large rearrangements may not be reliably detected unless bioinformatics includes copy number analysis. Your genetic counselor will explain the limitations.
Are benign neonatal seizures harmful to the baby's development?
Most infants with KCNQ3-related benign neonatal seizures have normal intellectual and motor development. However, a small number may experience seizures later in life, so ongoing pediatric follow-up is recommended.
What does a positive KCNQ3 result mean?
A positive result indicates a disease-causing variant in the KCNQ3 gene, confirming the clinical diagnosis and enabling family screening.
Is pre-test genetic counseling necessary?
Yes, genetic counseling is recommended to draw a pedigree chart and discuss the benefits, risks, and implications of testing.
Can I get the raw data files with the report?
Yes, DNA Labs India is transparent and shares Raw Data, FASTQ, and VCF files along with the clinical report.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across many cities in India.
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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