KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic Test
Short Name: KCNQ1OT1 BWS NGS Test
Also known as: Beckwith-Wiedemann syndrome genetic test, KCNQ1OT1 mutation analysis, BWS NGS test
KCNQ1OT1 Gene Beckwith-Wiedemann syndrome 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 identify mutations or epigenetic alterations in the KCNQ1OT1 gene to confirm a diagnosis of Beckwith-Wiedemann syndrome, assess cancer risk, and guide clinical management.
- Test Code
- 2843
- 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
Provide clinical history and undergo genetic counseling.
Method: Venipuncture
Laboratory Analysis
Blood sample collected via venipuncture.
Report Delivery
Apply pressure to the puncture site; sample sent to lab for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations or epigenetic alterations in the KCNQ1OT1 gene to confirm a diagnosis of Beckwith-Wiedemann syndrome, assess cancer risk, and guide clinical management.
How to Prepare
- Fast for 8-12 hours if specified
- Avoid strenuous activity before collection
- Bring identification and prescription
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for Beckwith-Wiedemann syndrome is crucial for early diagnosis and management, especially given the increased cancer risk. A genetic counseling session is recommended before and after testing."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of BWS; increased cancer risk monitoring recommended.
No pathogenic variant detected
BWS less likely, but clinical correlation needed.
If symptoms of BWS are present or if genetic test results are positive, consult a geneticist or pediatrician for management.
Limitations
- ⚠May not detect all types of mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw
- ●Possible bruising or infection at puncture site
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Hemolyzed blood sample
Compare With Similar Tests
| Test | KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic Test | MLPA for BWS | Methylation-specific PCR |
|---|---|---|---|
| Comparison | KCNQ1OT1 Gene Beckwith-Wiedemann syndrome NGS Genetic Test | MLPA detects copy number variations, while NGS provides comprehensive sequencing. | Focuses on methylation status, NGS covers broader genetic analysis. |
Frequently Asked Questions
What is Beckwith-Wiedemann syndrome?
What role does the KCNQ1OT1 gene play in BWS?
How is the NGS genetic test for BWS performed?
What is the cost of the KCNQ1OT1 Gene BWS NGS test?
Is home sample collection available for this test?
How long does it take to get the test results?
What are the common symptoms of Beckwith-Wiedemann syndrome?
How accurate is the NGS genetic test for BWS?
Do I need genetic counseling before the test?
What should I do if the test results are positive?
Can this test detect all mutations associated with BWS?
Is the test covered by insurance?
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