KCNQ1 Gene Short QT syndrome type 2 NGS Genetic Test
Short Name: KCNQ1 SQTS Type 2 NGS Test
Also known as: Short QT syndrome type 2 genetic test, KCNQ1 mutation analysis, SQTS2 NGS test
KCNQ1 Gene Short QT syndrome type 2 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify pathogenic mutations in the KCNQ1 gene that cause Short QT syndrome type 2, enabling accurate diagnosis, risk stratification for sudden cardiac arrest, and personalized treatment planning.
- Test Code
- 5285
- 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
Sample Collection
Genetic counseling session recommended to discuss test implications and draw a family pedigree chart. No fasting required.
Method: Venipuncture or finger-prick
Laboratory Analysis
Standard blood draw procedure using sterile equipment. For FTA card, a single drop of blood is sufficient.
Report Delivery
Sample is labeled, stored appropriately, and transported to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic mutations in the KCNQ1 gene that cause Short QT syndrome type 2, enabling accurate diagnosis, risk stratification for sudden cardiac arrest, and personalized treatment planning.
How to Prepare
- Fasting not required
- Use sterile collection tubes or FTA cards
- Ensure proper labeling with patient details
- Avoid hemolysis during blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for KCNQ1 mutations is essential for confirming Short QT syndrome type 2, assessing sudden cardiac arrest risk, and guiding personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Incorrect sample type
- Missing patient information
Understanding Your Results
Positive for pathogenic variant
Mutation detected in KCNQ1 gene, consistent with Short QT syndrome type 2. Increased risk of arrhythmias and sudden cardiac arrest. Clinical management and family screening recommended.
Negative
No pathogenic variants detected in KCNQ1 gene. Does not rule out other genetic or non-genetic causes. Clinical evaluation based on symptoms and ECG findings.
Variant of Uncertain Significance (VUS)
Genetic variant identified but clinical significance unknown. Requires further studies and genetic counseling. Monitor symptoms and consider repeat testing.
Consult a cardiologist or geneticist if you experience symptoms like fainting, palpitations, or chest pain, or if there is a family history of Short QT syndrome or sudden cardiac death. Also, seek guidance after receiving test results for personalized management.
Limitations
- ⚠May not detect all possible mutations due to technical limitations
- ⚠Results require genetic counseling for interpretation
- ⚠Cannot predict disease severity or onset with certainty
- ⚠Limited to KCNQ1 gene; other genetic causes not covered
Risks & Considerations
- ●Minimal risk from blood draw (bruising, infection)
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood sample
- ●Incorrect sample storage
Compare With Similar Tests
| Test | KCNQ1 Gene Short QT syndrome type 2 NGS Genetic Test | Long QT Syndrome Genetic Test | Cardiac Panel Genetic Test | ECG Test | Other Short QT Syndrome Genetic Tests |
|---|---|---|---|---|---|
| Comparison | KCNQ1 Gene Short QT syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is KCNQ1 Gene Short QT syndrome type 2?
Who should consider this genetic test?
How is the test performed?
What is the cost of the test?
Is fasting required before the test?
How long does it take to get results?
What do the test results mean?
Is home sample collection available?
What are the risks of the test?
Can this test diagnose other heart conditions?
Do I need genetic counseling before testing?
What if the test shows a Variant of Uncertain Significance (VUS)?
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₹20,000Reference Laboratory Services
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