EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test
Comprehensive Genetic Analysis for Breathing Disorders
The EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for respiratory conditions. This advanced genetic test specifically targets the EDN3 (Endothelin-3) gene, which plays a critical role in the development of the autonomic nervous system and respiratory control centers. Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder characterized by inadequate breathing, particularly during sleep, due to impaired automatic control of respiration.
What This Test Measures and Detects
Our state-of-the-art Next-Generation Sequencing (NGS) technology comprehensively analyzes the EDN3 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions within the gene sequence
- Copy number variations affecting gene function
- Pathogenic variants associated with CCHS development
- Inheritance patterns and familial risk assessment
Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Unexplained breathing difficulties, especially during sleep
- History of respiratory arrest or near-miss events
- Family history of congenital central hypoventilation syndrome
- Infants with unexplained cyanosis or breathing pauses
- Patients with associated autonomic nervous system dysfunction
- Individuals with Hirschsprung disease and respiratory symptoms
- Those with suspected neurocristopathies affecting respiratory control
Clinical Benefits of Genetic Testing
Undergoing the EDN3 Gene Central Hypoventilation Syndrome test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CCHS with high precision
- Early Intervention: Enables timely implementation of respiratory support
- Family Planning: Provides crucial information for genetic counseling
- Treatment Guidance: Helps tailor personalized respiratory management plans
- Prognostic Information: Offers insights into disease progression and complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results:
- Positive Result: Indicates the presence of pathogenic EDN3 mutations, confirming CCHS diagnosis and guiding appropriate medical management
- Negative Result: Suggests absence of known EDN3 mutations, though other genetic causes may need investigation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Description | 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, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Pre-Test Requirements
To ensure optimal testing accuracy, we require:
- Complete clinical history of the patient undergoing testing
- Genetic counseling session to create detailed family pedigree
- Documentation of family members affected by CCHS symptoms
- Appropriate sample collection (Blood, Extracted DNA, or Blood on FTA Card)
Take Control of Your Health Today
Don’t let uncertainty about breathing disorders affect your quality of life. Our specialized genetic testing provides the answers you need for proper diagnosis and management. With results available in 3-4 weeks and comprehensive genetic counseling support, you can make informed decisions about your health care.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your EDN3 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test and take the first step toward accurate diagnosis and effective treatment.
