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SCN9A Gene Dravet syndrome, modifier of NGS Genetic Test

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SCN9A Gene Dravet syndrome, modifier of NGS Genetic Test

Short Name: SCN9A Gene Dravet Syndrome Modifier NGS

Also known as: SCN9A Gene Modifier Test, SCN9A Dravet Syndrome Modifier NGS

SCN9A Gene Dravet syndrome, modifier of 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 processed within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 SCN9A gene modifier NGS genetic test is to identify genetic alterations in the SCN9A gene that may modify the phenotype and severity of Dravet syndrome. This helps in predicting disease progression, optimizing therapeutic strategies, and enabling informed family counselling.

Test Code
4012
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are processed within 3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is needed. A clinical history of the patient and a pedigree chart of family members affected with Dravet syndrome or related neurological disorders is recommended. A genetic counselling session should be completed before the test.

Method: Peripheral blood venipuncture or FTA card spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect 2-3 ml of peripheral blood in an EDTA vacutainer. Alternatively, a single drop of blood can be transferred onto an FTA card. For mobile collection, the sample kit is provided by DNA Labs India.

Step 3

Report Delivery

The sample should be labeled correctly and sent to the laboratory as soon as possible. No special precautions are required after collection. Patients can resume normal activities immediately.

Timeline: Reports are processed within 3 to 4 weeks from the date of sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Review the clinical history and expectations with the genetic counsellor. Ensure the test order includes SCN9A analysis as a modifier.
2
During the Test:Not applicable. The test is performed on the blood or DNA sample after collection.
3
After the Test:Discuss results with the referring physician. If needed, request a copy of raw data files for further analysis.

About This Test

Who Should Get This Test

The purpose of this SCN9A gene modifier NGS genetic test is to identify genetic alterations in the SCN9A gene that may modify the phenotype and severity of Dravet syndrome. This helps in predicting disease progression, optimizing therapeutic strategies, and enabling informed family counselling.

How to Prepare

  • Please bring the filled test requisition form and clinical history.
  • Ensure hereditary/neurological background is documented with pedigree.
  • For children, the parent or guardian must provide written consent.
  • Transport blood samples within 48 hours; FTA cards can be sent by post.

Doctor's Notes

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

"Understanding the genetic modifiers of Dravet syndrome can help provide accurate reproductive risk counseling to affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml whole blood or 1 FTA card spot
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood venipuncture or FTA card spot

Sample Stability

Whole blood (EDTA) is stable for 48 hours at room temperature and up to 7 days at 2-8°C.
Extracted DNA is stable for 1 week at 2-8°C and long-term at -20°C.
FTA cards are stable for months at room temperature when stored in a sealed dry pouch.
Sample Rejection Criteria:
  • Hemolyzed or visibly clotted blood sample
  • Sample received with incorrect or missing patient identification
  • FTA card exposed to moisture or handled without gloves
  • Samples from non-EDTA anticoagulant tubes (e.g., heparin)

Understanding Your Results

The SCN9A NGS genetic test report identifies variants in the SCN9A gene that may act as modifiers of Dravet syndrome. Findings are correlated with clinical symptoms and SCN1A status. The report is issued by clinical genetics experts and should be interpreted in conjunction with a neurologist.
Pathogenic or Likely Pathogenic Variant: Strong evidence suggests the variant contributes to disease severity. Consult a clinical geneticist for management.
Variant of Uncertain Significance (VUS): The variant may be relevant; further segregation and functional studies are recommended.
No Pathogenic Variant Detected: No clinically significant variants were identified in the SCN9A gene. This does not exclude other genetic causes.
⚠️ When to Consult a Doctor:

If the test reveals a pathogenic or likely pathogenic variant, consult with a neurologist and a clinical geneticist to discuss therapeutic options, surveillance, and family counselling.

Limitations

  • ⚠NGS may not detect all types of mutations, including large structural deletions, repeat expansions, or deep intronic variants.
  • ⚠This test is targeted to the SCN9A gene and does not evaluate other genes associated with Dravet syndrome.
  • ⚠A negative result does not exclude a genetic cause for the patient's phenotype.
  • ⚠Variant of uncertain significance (VUS) may be reported; further family studies may be required.

Risks & Considerations

  • ●No significant physical risks are associated with the blood draw.
  • ●Minor bruising or dizziness may occur at the venipuncture site.
  • ●Psychological stress from receiving a genetic risk result is possible.

Interfering Factors

  • ●Maternal cell contamination in blood samples collected from infants
  • ●DNA degradation due to improper sample storage
  • ●Sequence homology from pseudogenes may affect alignment
  • ●Recent blood transfusion may dilute patient DNA

Compare With Similar Tests

TestSCN9A Gene Dravet syndrome, modifier of NGS Genetic TestSCN1A Gene SequencingDravet Syndrome Targeted PanelEpilepsy NGS PanelWhole Exome Sequencing
ComparisonSCN9A Gene Dravet syndrome, modifier of NGS Genetic Test

Frequently Asked Questions

What is the cost of the SCN9A gene Dravet syndrome modifier NGS genetic test?
The test price is INR 20,000 at DNA Labs India, which includes free home sample collection and the clinical report. This is the discounted price across India.
What sample is required for the SCN9A gene NGS genetic test?
The test can be performed on 2-3 ml of blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. FTA cards allow easy transport.
Why is SCN9A gene analysis important in Dravet syndrome?
Mutations in SCN9A can act as modifiers that influence the severity of seizures in Dravet syndrome. Identifying such modifiers helps predict disease outcome and tailor treatment.
Does this test diagnose Dravet syndrome?
This test specifically analyzes SCN9A as a modifier gene. Diagnosis of Dravet syndrome requires correlation with clinical features and mutations in SCN1A. Our NGS test is often ordered alongside SCN1A analysis.
Is fasting required before the test?
No, fasting is not required for the SCN9A gene NGS genetic test. You can eat and drink normally before sampling.
How long will it take to receive the test report?
The report is typically delivered within 3 to 4 weeks after the sample reaches our laboratory. The raw data files will also be provided.
Will I receive raw data files along with the report?
Yes, DNA Labs India is the only lab that shares Raw Data, FASTQ, and VCF files along with the conclusive clinical report for this test.
Can this test be done for children?
Yes, the test is suitable for children as well. A parent or legal guardian must provide written consent, and a clinical history should be submitted.
Is this test covered by health insurance?
Genetic tests are generally not covered by government health schemes like PMJAY or CGHS. Private insurance may offer partial coverage depending on the policy; we recommend checking with your insurer.
What does a negative test result mean?
A negative result indicates that no pathogenic or likely pathogenic variants were identified in the SCN9A gene. However, it does not rule out the presence of other genetic causes.
Do I need a doctor's prescription for this test?
Although the test can be booked directly, it is recommended that it be ordered by a neurologist or clinical geneticist to ensure appropriate interpretation and counselling.
Is home sample collection available in my city?
Yes, DNA Labs India offers free home sample collection in 200+ cities including Mumbai, Delhi, Bangalore, Hyderabad, Pune, Chennai, Kolkata, and many others. You can book online to schedule a pickup.
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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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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