KCNH2 Gene Short QT syndrome type 1 NGS Genetic Test
Short Name: KCNH2 SQTS Type 1 NGS Test
Also known as: SQTS Type 1 Genetic Test, KCNH2 Mutation Analysis, Short QT Syndrome Genetic Test
KCNH2 Gene Short QT syndrome type 1 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.
🩺 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 diagnose Short QT Syndrome Type 1 by identifying mutations in the KCNH2 gene, enabling early intervention, risk assessment, and family screening to prevent sudden cardiac death.
- Test Code
- 5284
- 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)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Short QT Syndrome.
Method: Venipuncture or finger-prick
Laboratory Analysis
Standard blood collection procedure; no special requirements.
Report Delivery
Sample is processed in the lab for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Short QT Syndrome Type 1 by identifying mutations in the KCNH2 gene, enabling early intervention, risk assessment, and family screening to prevent sudden cardiac death.
How to Prepare
- Use sterile techniques for blood collection
- Label samples correctly with patient details
- Store samples at appropriate temperature until transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for KCNH2 mutations is essential for early diagnosis and management of Short QT Syndrome, helping to prevent sudden cardiac events through personalized treatment plans."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled or insufficient sample volume
- Samples without proper consent or documentation
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Short QT Syndrome Type 1; risk of cardiac events increased; family screening recommended.
No pathogenic variant detected
No mutation found in KCNH2 gene; does not rule out other genetic or non-genetic causes; clinical correlation advised.
Variant of uncertain significance (VUS)
Genetic variant identified but clinical significance unknown; requires further research and monitoring.
Consult a cardiologist or genetic specialist if you experience symptoms like palpitations, fainting, or have a family history of sudden cardiac death, regardless of test results.
Limitations
- ⚠May not detect all genetic variants or mutations in non-coding regions
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out other causes of cardiac symptoms
Risks & Considerations
- ●Minimal physical risks from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results (e.g., anxiety, stress)
- ●Potential for incidental findings unrelated to Short QT Syndrome
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection or processing
- ●Technical limitations of NGS technology
Frequently Asked Questions
What is Short QT Syndrome?
What is the KCNH2 gene?
How is the KCNH2 Gene Short QT Syndrome test performed?
What are the symptoms of Short QT Syndrome?
Who should consider this genetic test?
What does a positive test result mean?
What is the cost of the KCNH2 Gene Short QT Syndrome test?
Is home sample collection available for this test?
How long does it take to get the test results?
Is genetic counseling provided with the test?
What are the risks of undergoing this genetic test?
How accurate is NGS genetic testing for Short QT Syndrome?
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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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