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TMEM43 Gene Arrhythmogenic right ventricular cardiomyopathy type 5 NGS Genetic Test

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TMEM43 Gene Arrhythmogenic right ventricular cardiomyopathy type 5 NGS Genetic Test

Short Name: TMEM43 ARVC5 NGS Test

Also known as: ARVC5, Arrhythmogenic right ventricular cardiomyopathy type 5

TMEM43 Gene Arrhythmogenic right ventricular cardiomyopathy type 5 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 Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the TMEM43 Gene ARVC5 NGS Genetic Test is to identify mutations in the TMEM43 gene that cause Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 (ARVC5). This test aids in confirming diagnosis, guiding treatment decisions, and enabling genetic counselling for affected individuals and their families.

Test Code
2495
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 detailed clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with ARVC5.

Method: Venipuncture or FTA Card

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or using an FTA card with one drop of blood.

Step 3

Report Delivery

Sample will be processed and analyzed using NGS technology. Results will be available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counselling. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card.
3
After the Test:Sample sent for NGS analysis. Results delivered in 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of the TMEM43 Gene ARVC5 NGS Genetic Test is to identify mutations in the TMEM43 gene that cause Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 (ARVC5). This test aids in confirming diagnosis, guiding treatment decisions, and enabling genetic counselling for affected individuals and their families.

How to Prepare

  • Provide clinical history of the patient
  • Undergo genetic counselling session
  • Ensure sample is collected in appropriate container
  • Label sample correctly with patient details

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for ARVC5 can guide personalized treatment and family screening, potentially preventing serious cardiac complications."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card
Sample Rejection Criteria:
  • Insufficient sample volume
  • Contaminated or hemolyzed sample
  • Incorrect labeling or missing information

Understanding Your Results

Results of the TMEM43 Gene ARVC5 NGS Genetic Test indicate the presence or absence of pathogenic mutations in the TMEM43 gene. A positive result confirms genetic predisposition to ARVC5, while a negative result may not entirely rule out the condition due to other genetic or environmental factors.
Positive result: Pathogenic mutation detected, indicating increased risk for ARVC5. Genetic counselling and cardiac monitoring recommended.
Negative result: No pathogenic variants detected. Clinical correlation and further testing may be needed if symptoms persist.
Variant of uncertain significance (VUS): Genetic variant found but clinical significance unknown. Follow-up and family studies advised.
⚠️ When to Consult a Doctor:

Consult a doctor if you experience symptoms of ARVC5, have a family history of the condition, or receive a positive genetic test result for further evaluation and management.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Results require interpretation by a genetic specialist
  • ⚠Cannot predict disease severity or onset with certainty

Risks & Considerations

  • ●Minor bruising or pain at blood draw site
  • ●Rare risk of infection
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Degraded DNA samples
  • ●Contamination during sample collection
  • ●Recent blood transfusions may affect results

Frequently Asked Questions

What is the TMEM43 Gene ARVC5 NGS Genetic Test?
This test analyzes the TMEM43 gene using next-generation sequencing to identify mutations causing Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 (ARVC5).
Who should consider this test?
Individuals with symptoms of ARVC5, family history of the condition, or those recommended by a cardiologist or geneticist.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to sequence the TMEM43 gene.
What is the cost of the test?
The test costs INR 20,000 in India, with possible discounts for online bookings.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate the presence or absence of pathogenic mutations in the TMEM43 gene, helping diagnose ARVC5 and guide treatment.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw. Emotional impact of results should be considered.
Can this test be used for family screening?
Yes, it can identify at-risk family members through genetic counselling and testing.
What is the accuracy of the test?
NGS technology is highly accurate for detecting genetic mutations, but results require clinical interpretation.
How should I prepare for the test?
No special preparation is needed. Provide clinical history and attend genetic counselling if required.
What happens after the test?
Results are reviewed by a genetic specialist, and a follow-up consultation may be recommended for management.
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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For Hospitals & Clinics

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

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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