CASQ2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 2 NGS Genetic Test
Short Name: CASQ2 Gene CPVT2 NGS Test
Also known as: CPVT2 Genetic Test, CASQ2 Mutation Analysis, Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 Test
CASQ2 Gene Ventricular tachycardia, catecholaminergic polymorphic type 2 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 4-6 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic variants in the CASQ2 gene that cause catecholaminergic polymorphic ventricular tachycardia type 2. It aids in confirming diagnosis, assessing risk for family members, informing treatment decisions such as medication (e.g., beta-blockers) or lifestyle modifications, and supporting genetic counseling for affected individuals and their families.
- Test Code
- 5306
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 4-6 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or blood drop on FTA card
Laboratory Analysis
A blood sample will be collected via venipuncture or a blood drop on an FTA card by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Resume normal activities unless advised otherwise.
Timeline: 4-6 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic variants in the CASQ2 gene that cause catecholaminergic polymorphic ventricular tachycardia type 2. It aids in confirming diagnosis, assessing risk for family members, informing treatment decisions such as medication (e.g., beta-blockers) or lifestyle modifications, and supporting genetic counseling for affected individuals and their families.
How to Prepare
- Ensure proper identification and labeling of samples
- Use sterile collection equipment
- Transport samples at room temperature as per guidelines
- Complete all required documentation and consent forms
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CASQ2 mutations is crucial for diagnosing catecholaminergic polymorphic ventricular tachycardia (CPVT2) and guiding personalized treatment, such as beta-blocker therapy and avoidance of strenuous exercise."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of CPVT2; recommend genetic counseling, family screening, and treatment initiation.
Negative for pathogenic variant
No mutation detected; consider other genetic or clinical causes if symptoms persist.
Variant of uncertain significance
Further evaluation and family studies may be needed; consult a genetic specialist.
Consult a cardiologist or genetic specialist immediately if you experience symptoms like fainting, palpitations, or chest pain, especially during exercise. Also, seek advice if you have a family history of sudden cardiac death or CPVT.
Limitations
- ⚠May not detect all possible mutations in the CASQ2 gene
- ⚠Results require interpretation by a genetic counselor or specialist
- ⚠Does not replace clinical evaluation or other cardiac tests
- ⚠Genetic variants of uncertain significance may be identified
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Privacy concerns with genetic data
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Hemolyzed blood samples
- ●Recent blood transfusions may affect DNA analysis
Frequently Asked Questions
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₹20,000Reference 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.
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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