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RYR2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 1 NGS Genetic Test

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RYR2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 1 NGS Genetic Test

Short Name: RYR2 Gene CPVT NGS Test

Also known as: CPVT, RYR2-related ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia type 1

RYR2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 1 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 TestAll ages, typically children and young adults🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the RYR2 Gene CPVT NGS Genetic Test is to identify pathogenic mutations in the RYR2 gene associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). This aids in confirming diagnosis, assessing risk for family members, guiding treatment decisions, and enabling genetic counseling to prevent life-threatening cardiac events.

Test Code
5303
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

No specific preparation required. Provide clinical history and family pedigree during genetic counseling.

Method: Venipuncture

Step 2

Laboratory Analysis

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

Step 3

Report Delivery

Apply pressure to the puncture site. Store sample as per lab instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Undergo genetic counseling to discuss family history and implications of testing.
2
During the Test:Blood sample collection is quick and minimally invasive.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

The purpose of the RYR2 Gene CPVT NGS Genetic Test is to identify pathogenic mutations in the RYR2 gene associated with catecholaminergic polymorphic ventricular tachycardia (CPVT). This aids in confirming diagnosis, assessing risk for family members, guiding treatment decisions, and enabling genetic counseling to prevent life-threatening cardiac events.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details
  • Transport samples to the lab within specified stability period

Doctor's Notes

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

"Genetic testing for CPVT is crucial for early diagnosis and management to prevent life-threatening arrhythmias, especially in families with a history of sudden cardiac events."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube
FTA card
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted blood sample
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the RYR2 Gene CPVT NGS Genetic Test indicate the presence or absence of pathogenic mutations in the RYR2 gene. Interpretation should be done by a genetic specialist in conjunction with clinical findings.
📊

Positive for pathogenic variant

Confirms genetic cause of CPVT. Risk assessment for family members and tailored management recommended.

📊

Negative for pathogenic variant

No RYR2 mutation detected. Clinical evaluation for other causes may be needed.

📊

Variant of uncertain significance (VUS)

Further testing and family studies required for clarification.

⚠️ When to Consult a Doctor:

Consult a cardiologist or genetic specialist if you experience symptoms like fainting, palpitations, or chest pain during exercise, or if there is a family history of CPVT or sudden cardiac death.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation
  • ⚠Does not rule out other causes of arrhythmias

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample storage

Frequently Asked Questions

What is the RYR2 Gene CPVT NGS Genetic Test?
It is a Next-Generation Sequencing (NGS) test that detects mutations in the RYR2 gene associated with catecholaminergic polymorphic ventricular tachycardia (CPVT), a genetic heart rhythm disorder.
Who should consider getting this test?
Individuals with symptoms of CPVT, such as fainting during exercise, or those with a family history of CPVT or sudden cardiac death should consider this test.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to identify mutations in the RYR2 gene. The process involves sample collection, DNA extraction, sequencing, and data analysis.
What is the cost of the RYR2 Gene CPVT NGS Genetic Test?
The test costs INR 20000.0 at DNA Labs India, which includes home sample collection and genetic counseling.
Is the test covered by insurance?
This test may not be covered by insurance and often requires out-of-pocket expenses. Check with your insurance provider for details.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What are the symptoms of CPVT?
Symptoms include fast heart rate, dizziness, fainting, chest pain, and shortness of breath, often triggered by exercise or stress.
How is CPVT diagnosed?
Diagnosis involves clinical evaluation, ECG, stress tests, and genetic testing to confirm mutations in genes like RYR2.
What is the treatment for CPVT?
Treatment includes beta-blockers, calcium channel blockers, lifestyle changes, and in severe cases, implantable cardioverter-defibrillators (ICDs).
Can CPVT be prevented?
While CPVT cannot be prevented, early diagnosis through genetic testing allows for management to reduce risk of arrhythmias and sudden cardiac death.
What are the risks of the genetic test?
Risks are minimal, primarily related to blood draw (e.g., bruising). Psychological impact of results is possible, so genetic counseling is recommended.
How do I prepare for the test?
No special preparation is needed. Provide your clinical history and family pedigree during the pre-test genetic counseling session.
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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