EZH2 Gene Weaver syndrome NGS Genetic Test
Short Name: EZH2 NGS Test
Also known as: Weaver Syndrome Genetic Test, EZH2 Gene Mutation Test, NGS for EZH2
EZH2 Gene Weaver 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 Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the EZH2 Gene Weaver Syndrome NGS Genetic Test is to confirm a clinical diagnosis of Weaver syndrome by identifying disease-causing mutations in the EZH2 gene. This test is indicated for individuals presenting with characteristic features such as tall stature, macrocephaly, distinctive facial dysmorphism, and developmental delay. It also aids in carrier testing, prenatal diagnosis, and risk assessment for family members. By providing a definitive molecular diagnosis, the test enables personalized medical care, surveillance for associated complications, and informed reproductive decisions.
- Test Code
- 5984
- CPT Code
- 81407
- ICD Code
- Q87.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, it is important to provide a detailed clinical history and any relevant family history. A genetic counseling session will be conducted prior to sample collection to discuss the test, its implications, and to draw a pedigree chart.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist using a sterile needle. For FTA card collection, a simple finger-prick is sufficient. The procedure is quick and minimally invasive.
Report Delivery
After sample collection, you can resume normal activities. The sample will be sent to our laboratory for analysis. You will be informed when the results are ready, typically within 3-4 weeks.
Timeline: Results are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the EZH2 Gene Weaver Syndrome NGS Genetic Test is to confirm a clinical diagnosis of Weaver syndrome by identifying disease-causing mutations in the EZH2 gene. This test is indicated for individuals presenting with characteristic features such as tall stature, macrocephaly, distinctive facial dysmorphism, and developmental delay. It also aids in carrier testing, prenatal diagnosis, and risk assessment for family members. By providing a definitive molecular diagnosis, the test enables personalized medical care, surveillance for associated complications, and informed reproductive decisions.
How to Prepare
- Ensure the sample is collected in the provided EDTA tube or FTA card.
- For FTA card, allow the blood spot to air dry completely before sealing.
- Label the sample with patient name, date of birth, and collection date.
- Transport the sample to the laboratory at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Weaver syndrome is a rare overgrowth disorder that requires careful clinical evaluation. Genetic testing for EZH2 mutations is essential for confirmation and to guide management. Early diagnosis can significantly improve patient outcomes through tailored surveillance and supportive care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms the diagnosis of Weaver syndrome. Genetic counseling is recommended for the patient and family.
Negative (No pathogenic variant detected)
Does not rule out Weaver syndrome; other genetic causes may be considered. Clinical correlation is essential.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further family studies or functional analysis may be needed.
Consult a geneticist or pediatrician if you or your child exhibits features suggestive of Weaver syndrome, such as rapid growth, large head size, distinctive facial features, or developmental delays. Early diagnosis can help in managing the condition and providing appropriate support.
Limitations
- ⚠This test detects mutations only in the EZH2 gene; other genes may be responsible for similar phenotypes.
- ⚠NGS may not detect large deletions/duplications or deep intronic variants; additional testing may be required.
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed.
- ⚠Test results should be interpreted in the context of clinical findings and family history.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic testing results
- ●Potential for incidental findings
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Recent blood transfusion (for blood samples)
- ●Bone marrow transplantation (may affect results)
- ●Incorrect sample labeling
Compare With Similar Tests
| Test | EZH2 Gene Weaver syndrome NGS Genetic Test | Sotos Syndrome NGS Panel | Beckwith-Wiedemann Syndrome Methylation Test | Overgrowth Syndromes Comprehensive Panel |
|---|---|---|---|---|
| Comparison | EZH2 Gene Weaver syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the EZH2 Gene Weaver syndrome NGS Genetic Test?
What sample is required for this test?
How long does it take to get results?
Is fasting required before the test?
What is Weaver syndrome?
Who should consider this test?
Does the test include genetic counseling?
Can this test be done on children?
Is home sample collection available?
What does a positive result mean?
What if the result is negative?
Are there any risks associated with 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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