H19 Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Cancer Risk Assessment
The H19 Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test represents a cutting-edge approach to genetic testing for individuals at risk of Beckwith-Wiedemann syndrome (BWS), a complex genetic disorder associated with increased susceptibility to specific childhood cancers. This sophisticated diagnostic tool utilizes next-generation sequencing technology to provide comprehensive analysis of the H19 gene, which plays a critical role in regulating growth and development.
What Does This Test Measure?
This advanced genetic test specifically targets and analyzes the H19 gene located on chromosome 11p15.5, focusing on:
- Detection of mutations and epigenetic alterations in the H19 gene
- Identification of methylation abnormalities affecting gene expression
- Analysis of genomic imprinting patterns crucial for normal development
- Assessment of genetic variations associated with tumor predisposition
Who Should Consider This Test?
This genetic test is particularly recommended for individuals presenting with:
- Macroglossia (enlarged tongue) and abdominal wall defects
- Neonatal hypoglycemia and ear creases/pits
- Organomegaly (enlarged organs) and hemihypertrophy
- Family history of Beckwith-Wiedemann syndrome
- Previous childhood cancers associated with BWS
- Unexplained overgrowth syndromes in infancy
Clinical Benefits of Genetic Testing
Undergoing the H19 Gene Beckwith-Wiedemann Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Early detection of cancer predisposition enabling proactive monitoring
- Personalized surveillance protocols for at-risk individuals
- Informed family planning decisions based on genetic risk assessment
- Comprehensive genetic counseling to understand inheritance patterns
- Targeted screening for specific cancer types including Wilms tumor and hepatoblastoma
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates presence of H19 gene mutations requiring specialized medical management and regular cancer screening
- Negative Result: Suggests absence of detectable mutations in the H19 gene, though continued monitoring may be recommended based on clinical presentation
- Variant of Uncertain Significance: Requires additional family studies and ongoing research correlation
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results regardless of your location.
Schedule Your Genetic Test Today
Take the first step toward understanding your genetic health. Our expert genetic counselors are available to discuss your testing options and provide comprehensive pre-test counseling. Contact us today at +1(267) 388-9828 to schedule your appointment or book your test online.
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-test Requirements: Clinical History and Genetic Counseling Session
