EZH2 Gene Weaver Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Weaver Syndrome
The EZH2 Gene Weaver Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for developmental disorders. This advanced next-generation sequencing test specifically targets mutations in the EZH2 gene, which plays a critical role in regulating gene expression and cellular development. Weaver syndrome, first described in 1974, is a rare genetic condition characterized by accelerated growth patterns and distinctive physical features that require precise genetic confirmation for accurate diagnosis and management.
What Does This Test Measure?
This sophisticated genetic analysis detects specific mutations in the EZH2 (Enhancer of Zeste Homolog 2) gene using cutting-edge NGS technology. The test examines:
- Point mutations and single nucleotide variants in the EZH2 gene
- Small insertions and deletions affecting gene function
- Regulatory regions that control EZH2 expression
- Pathogenic variants associated with Weaver syndrome development
Who Should Consider This Test?
This genetic test is recommended for individuals exhibiting symptoms consistent with Weaver syndrome, including:
- Infants and children with accelerated growth and advanced bone age
- Individuals with macrocephaly (unusually large head circumference)
- Patients showing distinctive facial features including hypertelorism, large ears, and retrognathia
- Children experiencing developmental delays or intellectual disability
- Individuals with camptodactyly (permanently bent fingers) or joint limitations
- Patients with a family history of similar developmental patterns
Key Benefits of EZH2 Genetic Testing
Undergoing the EZH2 Gene Weaver Syndrome test provides numerous advantages:
- Definitive Diagnosis: Confirms or rules out Weaver syndrome with high accuracy
- Personalized Management: Enables targeted treatment and monitoring strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely developmental support and educational planning
- Medical Guidance: Helps coordinate care with multiple specialists including pediatricians, geneticists, and developmental therapists
Understanding Your Test Results
Your EZH2 genetic test results will be carefully interpreted by our certified genetic counselors and medical geneticists:
- Positive Result: Indicates the presence of a pathogenic EZH2 mutation consistent with Weaver syndrome diagnosis
- Negative Result: Suggests that EZH2 mutations were not detected, though other genetic conditions may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: May identify individuals who carry the mutation but do not show symptoms
All results include comprehensive genetic counseling to ensure proper understanding and next steps for medical management.
Test Pricing Information
| Test Description | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for families throughout the country.
Take the Next Step Toward Genetic Clarity
If you or your child are experiencing symptoms that may indicate Weaver syndrome, don’t wait to get the answers you need. Our experienced genetic counselors are available to discuss your concerns and guide you through the testing process. Contact us today to schedule your EZH2 Gene Weaver Syndrome NGS Genetic DNA Test and take control of your genetic health journey.
Call or WhatsApp us at +1(267) 388-9828 to book your test today!
