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H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test

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H19 Gene Beckwith-Wiedemann syndrome NGS Genetic Test

H19 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Beckwith-Wiedemann Syndrome by detecting pathogenic variants in the H19 gene using NGS technology, enabling early management and risk reduction.

Test Code
2837
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)
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Beckwith-Wiedemann Syndrome.

Step 2

Laboratory Analysis

Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection for DNA extraction and NGS analysis.
3
After the Test:Results reviewed by a geneticist; follow-up consultation recommended.

About This Test

Who Should Get This Test

To diagnose Beckwith-Wiedemann Syndrome by detecting pathogenic variants in the H19 gene using NGS technology, enabling early management and risk reduction.

How to Prepare

  • Collect blood sample in appropriate container
  • Alternatively, use extracted DNA or one drop of blood on FTA card
  • Ensure sample is stored at ambient room temperature

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Early genetic testing for Beckwith-Wiedemann Syndrome is recommended for at-risk families to enable timely intervention and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the H19 gene associated with Beckwith-Wiedemann Syndrome.
📊

Positive for pathogenic variant

Confirms diagnosis of Beckwith-Wiedemann Syndrome; recommend clinical management and monitoring.

📊

Negative for pathogenic variant

No variants detected; clinical correlation may be needed if symptoms persist.

📊

Variant of uncertain significance

Further testing or family studies may be required for clarification.

⚠️ When to Consult a Doctor:

If symptoms of Beckwith-Wiedemann Syndrome are present, such as overgrowth, abdominal defects, or hypoglycemia, or if there is a family history of the syndrome.

Risks & Considerations

  • Minimal risks associated with blood draw
  • No significant risks from genetic testing itself

Frequently Asked Questions

What is Beckwith-Wiedemann Syndrome (BWS)?
Beckwith-Wiedemann Syndrome is a rare genetic disorder characterized by overgrowth, abdominal wall defects, and an increased risk of childhood cancers, often due to changes in the H19 gene.
What causes BWS?
BWS is primarily caused by genetic or epigenetic changes affecting the H19 gene and other genes on chromosome 11p15.5, leading to abnormal cell growth regulation.
What are the common symptoms of BWS?
Common symptoms include macrosomia, macroglossia, abdominal wall defects like omphalocele, hypoglycemia, ear creases or pits, and an increased risk of tumors such as Wilms tumor.
How is BWS diagnosed?
BWS is diagnosed through clinical evaluation and genetic testing, such as NGS Genetic Testing, which identifies pathogenic variants in the H19 gene.
What is the H19 gene?
The H19 gene is involved in regulating cell growth and is imprinted; mutations or epigenetic changes in this gene are associated with Beckwith-Wiedemann Syndrome.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is a advanced genetic testing method that sequences DNA to detect mutations or variants in genes like H19, providing accurate diagnosis for conditions like BWS.
How much does the H19 Gene BWS NGS Test cost?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for the H19 Gene BWS NGS Test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if my child is diagnosed with BWS?
Consult with a healthcare provider or genetic counselor to develop a management plan, which may include regular monitoring, surgery, or other interventions.
Is BWS treatable?
There is no cure for BWS, but early diagnosis and management can help reduce complications, such as cancer risk and physical abnormalities.
Can BWS be prevented?
BWS cannot be prevented, but genetic testing and counseling can help families understand risks and manage the condition early.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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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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