CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test
Short Name: CDKN1C BWS NGS Test
Also known as: BWS Genetic Test, CDKN1C Mutation Analysis, Beckwith-Wiedemann Syndrome NGS Test
CDKN1C 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 the CDKN1C Gene Beckwith-Wiedemann Syndrome NGS Genetic Test is to identify mutations in the CDKN1C gene that cause Beckwith-Wiedemann Syndrome. This test aids in confirming clinical diagnosis, differentiating BWS from other overgrowth disorders, assessing cancer risk, and informing genetic counseling for affected families.
- Test Code
- 2831
- 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
No specific preparation is required. Provide clinical history and undergo genetic counseling.
Method: Venipuncture or FTA Card
Laboratory Analysis
A blood sample will be collected via venipuncture or a saliva sample using an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Resume normal activities.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CDKN1C Gene Beckwith-Wiedemann Syndrome NGS Genetic Test is to identify mutations in the CDKN1C gene that cause Beckwith-Wiedemann Syndrome. This test aids in confirming clinical diagnosis, differentiating BWS from other overgrowth disorders, assessing cancer risk, and informing genetic counseling for affected families.
How to Prepare
- Ensure proper patient identification
- Use sterile collection tubes
- Avoid hemolysis in blood samples
- Label samples accurately with patient details
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Beckwith-Wiedemann Syndrome can guide personalized management and reduce associated cancer risks in children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted samples
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Consistent with diagnosis of Beckwith-Wiedemann Syndrome due to CDKN1C mutation. Increased cancer risk; recommend regular screening.
Action: Consult geneticist for management plan.
No pathogenic variant detected
CDKN1C mutation not identified. BWS may be caused by other genetic or epigenetic factors. Clinical correlation needed.
Action: Consider additional genetic testing if clinical suspicion remains.
Variant of uncertain significance (VUS)
Genetic change found but clinical significance unknown. Requires further evaluation.
Action: Genetic counseling and possible family studies recommended.
Consult a doctor if test results are positive, if there are clinical signs of BWS, or for guidance on cancer screening and management.
Limitations
- ⚠May not detect all genetic causes of BWS, such as epigenetic changes
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Does not rule out other genetic syndromes
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Recent blood transfusion
- ●Improper sample storage
Compare With Similar Tests
| Test | CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test | 11p15.5 Methylation Analysis | BWS Panel Genetic Test | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | CDKN1C Gene Beckwith-Wiedemann syndrome NGS Genetic Test |
Frequently Asked Questions
What is Beckwith-Wiedemann Syndrome?
What causes BWS?
How is BWS diagnosed?
What is the CDKN1C gene?
What does the NGS genetic test involve?
Is the test painful?
How long does it take to get results?
What if the test is positive?
Can BWS be treated?
Is genetic testing necessary for BWS?
Does insurance cover this test?
How can I book the test?
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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.
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✓ 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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