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SCN5A Gene Cardiomyopathy, dilated type 1E NGS Genetic Test

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SCN5A Gene Cardiomyopathy, dilated type 1E NGS Genetic Test

Short Name: SCN5A Cardiomyopathy NGS Test

Also known as: Dilated type 1E cardiomyopathy, SCN5A-related cardiomyopathy, Cardiac sodium channelopathy

SCN5A Gene Cardiomyopathy, dilated type 1E NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of the SCN5A Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the SCN5A gene associated with dilated type 1E cardiomyopathy. This aids in early diagnosis, risk assessment, family screening, and personalized treatment planning for individuals with symptoms or family history of inherited heart diseases.

Test Code
5207
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
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with SCN5A gene cardiomyopathy.

Method: Venipuncture or Blood drop

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or blood drop on FTA card by a trained phlebotomist.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under controlled conditions for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood sample collection takes about 10-15 minutes.
3
After the Test:Resume normal activities. Results available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of the SCN5A Gene Cardiomyopathy NGS Genetic Test is to identify mutations in the SCN5A gene associated with dilated type 1E cardiomyopathy. This aids in early diagnosis, risk assessment, family screening, and personalized treatment planning for individuals with symptoms or family history of inherited heart diseases.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile collection equipment
  • Follow aseptic techniques
  • Label sample correctly with patient details
  • Transport sample to lab within specified stability period

Doctor's Notes

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

"Genetic testing for SCN5A mutations is crucial for early diagnosis and management of dilated cardiomyopathy, especially in families with a history of heart disease."

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 blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Blood drop

Sample Stability

Room temperature24 hours for blood on FTA card
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling
  • Sample not stored properly

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SCN5A gene. Positive results suggest a genetic predisposition to dilated cardiomyopathy, requiring further clinical evaluation.
📊

Positive for pathogenic variant

Confirms genetic cause of cardiomyopathy; recommend cardiac monitoring and family screening.

Action: Consult a cardiologist and genetic counselor.

📊

Negative for pathogenic variant

No SCN5A mutations detected; consider other genetic or non-genetic causes.

Action: Follow up with clinical assessment.

📊

Variant of uncertain significance

Genetic variant found but clinical significance unknown; may require further testing.

Action: Genetic counseling and periodic re-evaluation.

⚠️ When to Consult a Doctor:

If you experience symptoms like shortness of breath, fatigue, chest pain, palpitations, or fainting, or if you have a family history of cardiomyopathy or sudden cardiac death, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • Test may not detect all types of SCN5A mutations
  • Results require interpretation by a genetic counselor or specialist
  • Does not rule out other genetic causes of cardiomyopathy
  • Limited to known pathogenic variants in databases

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of genetic results
  • Potential for uncertain results requiring further testing

Interfering Factors

  • Contaminated or degraded DNA sample
  • Incorrect sample collection or storage
  • Recent blood transfusion
  • Use of certain medications affecting DNA integrity

Compare With Similar Tests

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ComparisonSCN5A Gene Cardiomyopathy, dilated type 1E NGS Genetic Test

Frequently Asked Questions

What is SCN5A gene cardiomyopathy?
It is a rare genetic disorder caused by mutations in the SCN5A gene, leading to dilated cardiomyopathy type 1E, affecting the heart muscle and electrical signaling.
How is the SCN5A genetic test performed?
The test uses next-generation sequencing (NGS) to analyze DNA from a blood sample for mutations in the SCN5A gene.
What is the cost of the SCN5A NGS genetic test in India?
The cost is INR 20000, which includes sample collection, analysis, and reporting.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What are the symptoms of SCN5A gene cardiomyopathy?
Symptoms include shortness of breath, fatigue, chest pain, palpitations, fainting, and dizziness.
Who should consider getting this genetic test?
Individuals with a family history of cardiomyopathy, symptoms of heart failure, or unexplained arrhythmias should consider testing.
Is the SCN5A genetic test accurate?
Yes, NGS technology provides high accuracy for detecting pathogenic variants, but results should be interpreted by a genetic specialist.
What if the test result is positive?
A positive result indicates a genetic predisposition; consult a cardiologist and genetic counselor for management and family screening.
Can this test be covered by insurance?
Coverage depends on insurance plans; check with your provider. Currently, it is not covered under government schemes like PMJAY.
What is NGS technology?
Next-generation sequencing (NGS) is an advanced method for rapidly sequencing DNA to identify genetic mutations associated with diseases.
How should I prepare for the SCN5A genetic test?
No special preparation is needed. Provide clinical history and attend a genetic counseling session before sample collection.
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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