ELN Gene Supravalvar Aortic Stenosis NGS Genetic DNA Test
Comprehensive Genetic Testing for Heart Health
The ELN Gene Supravalvar Aortic Stenosis NGS Genetic DNA Test represents a breakthrough in cardiovascular genetic diagnostics, offering precise detection of mutations associated with supravalvar aortic stenosis (SVAS). This rare congenital heart condition affects the aorta’s structure and function, potentially leading to serious cardiovascular complications if left undiagnosed. Our advanced testing methodology provides families and healthcare providers with critical information for proactive health management.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets mutations in the ELN (elastin) gene, which plays a crucial role in maintaining the elasticity and structural integrity of arterial walls. The test utilizes Next-Generation Sequencing (NGS) technology to examine:
- Point mutations in the ELN gene coding regions
- Deletion and insertion variants affecting elastin production
- Genetic markers associated with Williams-Beuren syndrome
- Variants impacting connective tissue development
- Inheritance patterns for family planning decisions
Who Should Consider This Test
This genetic test is recommended for individuals experiencing specific symptoms or with concerning family history:
- Children or adults with unexplained heart murmurs
- Individuals with family history of supravalvar aortic stenosis
- Patients diagnosed with Williams-Beuren syndrome
- Those experiencing unexplained developmental delays
- Individuals with characteristic facial features associated with elastin disorders
- Patients with unexplained hypertension or cardiac symptoms
- Families planning pregnancy with genetic risk factors
Key Benefits of Genetic Testing
Undergoing the ELN Gene Supravalvar Aortic Stenosis test provides numerous advantages for patients and their families:
- Early Intervention Opportunities: Detect genetic predispositions before symptoms manifest
- Personalized Treatment Plans: Tailor medical management based on genetic findings
- Family Planning Guidance: Make informed decisions about genetic inheritance risks
- Comprehensive Risk Assessment: Understand complete cardiovascular health profile
- Peace of Mind: Eliminate uncertainty about genetic conditions
- Proactive Health Management: Implement preventive measures early
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates presence of ELN gene mutation, requiring specialized cardiac care and monitoring
- Negative Result: No detected mutations, significantly reducing risk of inherited SVAS
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family planning and genetic counseling
All results include detailed explanations and recommendations for next steps with our certified genetic counselors.
Test Pricing Information
| Price Type | Amount (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 metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing for everyone.
Take Control of Your Cardiovascular Health
Don’t let genetic uncertainties compromise your heart health. Early detection through genetic testing can provide life-saving insights and personalized care pathways. Our team of genetic specialists and cardiovascular experts are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your ELN Gene Supravalvar Aortic Stenosis NGS Genetic DNA Test and take the first step toward comprehensive cardiovascular health management.
