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SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic Test

Short Name: SCN8A EIEE Type 13 NGS Test

Also known as: SCN8A-related encephalopathy, EIEE13, SCN8A epileptic encephalopathy

SCN8A Gene Early infantile epileptic encephalopathy type 13 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. Free home collection in 300+ cities across India.

NGS Genetic TestInfants🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose mutations in the SCN8A gene that cause Early Infantile Epileptic Encephalopathy Type 13, enabling accurate identification of the genetic disorder for appropriate medical management, family planning, and genetic counseling.

Test Code
1596
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history of the patient and undergo a genetic counseling session to draw a family pedigree chart for SCN8A-related disorders.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture from a vein in the arm, following standard aseptic procedures.

Step 3

Report Delivery

The sample is labeled and sent to the laboratory for NGS analysis. Results are available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling to discuss indications, benefits, and limitations. Provide informed consent and family medical history.
2
During the Test:Sample collection is a routine blood draw, typically painless with minimal discomfort.
3
After the Test:Wait for 3-4 weeks for results. Genetic counseling will help interpret findings and plan next steps.

About This Test

Who Should Get This Test

To diagnose mutations in the SCN8A gene that cause Early Infantile Epileptic Encephalopathy Type 13, enabling accurate identification of the genetic disorder for appropriate medical management, family planning, and genetic counseling.

How to Prepare

  • Ensure sample is collected in an EDTA tube
  • Avoid hemolysis by proper handling
  • For FTA card, use one drop of blood and air-dry
  • Request raw data files (FASTQ, VCF) with the report

Doctor's Notes

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

"Genetic testing with NGS is essential for early diagnosis of SCN8A-related EIEE, guiding management and family counseling for affected infants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 mL
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Whole blood in EDTA
Sample Rejection Criteria:
  • Clotted or hemolyzed samples
  • Incorrect sample type or insufficient volume
  • Samples without proper labeling or consent

Understanding Your Results

Interpretation of SCN8A gene test results involves identifying pathogenic or likely pathogenic variants associated with EIEE type 13. Results should be reviewed by a geneticist or neurologist for clinical correlation.
📊

Pathogenic variant detected

Confirms diagnosis of SCN8A-related EIEE; genetic counseling and management planning recommended.

📊

No pathogenic variant detected

EIEE13 unlikely due to SCN8A mutations; consider other genetic or non-genetic causes.

📊

Variant of uncertain significance (VUS)

Further testing or family studies may be needed for clarification; clinical follow-up advised.

⚠️ When to Consult a Doctor:

Consult a geneticist or neurologist if your child experiences seizures in infancy, developmental delays, or other symptoms suggestive of epileptic encephalopathy. Early consultation is crucial for diagnosis and management.

Limitations

  • May not detect all types of SCN8A variants, such as large deletions or duplications
  • Results require clinical correlation and genetic counseling

Risks & Considerations

  • Minor bruising or soreness at blood draw site
  • Rare infection risk
  • Psychological impact of genetic results; counseling provided

Interfering Factors

  • Hemolyzed or degraded samples may affect analysis
  • Contamination during sample collection

Compare With Similar Tests

TestSCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic TestSCN1A Gene TestEpilepsy Gene PanelWhole Exome Sequencing
ComparisonSCN8A Gene Early infantile epileptic encephalopathy type 13 NGS Genetic Test

Frequently Asked Questions

What is SCN8A Gene Early Infantile Epileptic Encephalopathy Type 13?
It is a rare genetic disorder caused by mutations in the SCN8A gene, leading to seizures and developmental issues in infants.
What are the symptoms of SCN8A-related EIEE type 13?
Symptoms include seizures in early infancy, severe developmental delay, intellectual disability, abnormal muscle tone, feeding difficulties, sleep problems, and abnormal eye movements.
How is SCN8A gene EIEE type 13 diagnosed?
Diagnosis is through genetic testing using next-generation sequencing (NGS) on a blood or saliva sample.
What is the cost of the SCN8A gene test in India?
The test costs approximately INR 20,000 at DNA Labs India, with home collection available.
Is the SCN8A gene test covered by insurance?
Coverage varies; check with your provider. It is typically not covered under government schemes like PMJAY or CGHS.
What sample is required for the test?
A blood sample or extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get the results?
Results are usually available within 3 to 4 weeks after sample receipt.
What does a positive test result mean?
A positive result confirms a pathogenic SCN8A mutation, indicating EIEE type 13. Genetic counseling is recommended for management.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
Is genetic counseling included with the test?
Yes, a genetic counseling session is provided to draw a family pedigree chart and discuss results.
What are the limitations of the SCN8A gene test?
It may not detect all variant types, such as large structural changes, and results require clinical interpretation.
Who should consider this test?
Infants with seizures in the first few months of life, developmental delays, or family history of epileptic encephalopathy should consider this test.
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.

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