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DNA Labs India

RBM20 Gene Cardiomyopathy, dilated type 1DD NGS Genetic Test

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RBM20 Gene Cardiomyopathy, dilated type 1DD NGS Genetic Test

Also known as: DCM1DD, Dilated Cardiomyopathy Type 1DD

RBM20 Gene Cardiomyopathy, dilated type 1DD NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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

To diagnose RBM20 gene cardiomyopathy by detecting mutations in the RBM20 gene using next-generation sequencing, aiding in clinical management and genetic counseling.

Test Code
5201
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 Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required prior to testing.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended before sample collection.
3
After the Test:Results are reviewed by a geneticist, and a clinical report is provided with recommendations.

About This Test

Who Should Get This Test

To diagnose RBM20 gene cardiomyopathy by detecting mutations in the RBM20 gene using next-generation sequencing, aiding in clinical management and genetic counseling.

How to Prepare

  • For blood sample: Collect in EDTA tube using standard venipuncture technique
  • For extracted DNA: Ensure sample integrity and proper labeling
  • For FTA card: Apply one drop of blood and allow to dry completely

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results are interpreted based on the detection of variants in the RBM20 gene, classified according to their pathogenicity.
📊

Pathogenic variant detected

Confirms diagnosis of RBM20 gene cardiomyopathy; genetic counseling and cardiac monitoring recommended

📊

Likely pathogenic variant detected

Suggests high risk for cardiomyopathy; further clinical correlation advised

📊

Variant of uncertain significance (VUS)

Clinical significance unknown; repeat testing or family studies may be needed

📊

No pathogenic variant detected

RBM20 gene mutations not identified; consider other genetic or non-genetic causes

⚠️ When to Consult a Doctor:

Consult a cardiologist or genetic specialist if you have symptoms of cardiomyopathy, a family history of the condition, or after receiving test results for personalized management.

Limitations

  • May not detect all types of genetic variants, such as large deletions or duplications
  • Results require interpretation by a genetic specialist
  • Does not replace clinical evaluation for cardiomyopathy diagnosis

Risks & Considerations

  • Psychological impact of genetic results
  • Privacy concerns with genetic data
  • Potential for uncertain results requiring further testing

Frequently Asked Questions

What is RBM20 gene cardiomyopathy?
It is a rare form of dilated cardiomyopathy caused by mutations in the RBM20 gene, leading to heart muscle enlargement and impaired function.
What are the symptoms of RBM20 gene cardiomyopathy?
Symptoms include shortness of breath, fatigue, swelling in legs, rapid heartbeat, and chest pain, though some may be asymptomatic.
How is the NGS Genetic Test performed?
The test uses next-generation sequencing to analyze DNA from blood or other samples for mutations in the RBM20 gene.
What is the cost of the test in India?
The cost is INR 20000, which includes home sample collection and a clinical report.
Is home sample collection available?
Yes, free home collection is offered across India for online bookings.
How long does it take to get results?
Results are typically available in 3 to 4 weeks after sample receipt.
What does a positive test result mean?
A positive result indicates a pathogenic variant in the RBM20 gene, confirming diagnosis and guiding treatment and family screening.
Is genetic counseling required before testing?
Yes, a genetic counseling session is recommended to discuss implications and draw a family pedigree chart.
Can children undergo this test?
Yes, the test is suitable for all ages, especially if there is a family history or symptoms.
Is the test covered by insurance?
Coverage depends on the insurance provider; it is not typically covered under government schemes like PMJAY or CGHS.
What are the risks of genetic testing?
Risks include psychological stress, privacy concerns, and the possibility of uncertain results.
How accurate is the NGS Genetic Test?
The test is highly accurate for detecting variants in the RBM20 gene, but interpretation should be done by a genetic specialist.
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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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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