ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test
Understanding Congenital Central Hypoventilation Syndrome
Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder that affects the autonomic nervous system’s ability to control breathing, particularly during sleep. This life-threatening condition is primarily caused by mutations in the ASCL1 gene, which plays a critical role in the development of neural crest cells and the autonomic nervous system. Our advanced NGS Genetic DNA Test provides comprehensive analysis to identify these genetic abnormalities, offering crucial diagnostic information for affected individuals and their families.
What Does the ASCL1 Gene Test Measure?
This sophisticated genetic test utilizes Next-Generation Sequencing (NGS) technology to thoroughly examine the ASCL1 gene for pathogenic variants. The test specifically detects:
- Point mutations and small insertions/deletions in the ASCL1 gene
- Polyalanine repeat expansions that commonly cause CCHS
- Frameshift mutations affecting protein function
- Missense and nonsense mutations impacting gene expression
- Regulatory region variants that may affect gene regulation
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained breathing difficulties, especially during sleep
- Infants with apparent life-threatening events (ALTE)
- Children requiring mechanical ventilation for unclear reasons
- Family history of sudden infant death syndrome (SIDS)
- Associated autonomic nervous system abnormalities
- Hirschsprung disease with breathing concerns
- Neural crest tumor history with respiratory symptoms
Comprehensive Benefits of ASCL1 Genetic Testing
Undergoing this genetic analysis provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out CCHS with high precision
- Family Planning: Enables informed reproductive decisions for at-risk families
- Early Intervention: Facilitates timely medical management and ventilator support
- Prognostic Information: Helps predict disease severity and progression
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Treatment Guidance: Informs appropriate respiratory care strategies
Understanding Your Test Results
Interpretation Guidelines
Our genetic specialists provide detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic ASCL1 mutation confirming CCHS diagnosis
- Negative Result: Suggests absence of detectable ASCL1 mutations but doesn’t completely rule out CCHS
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals with single mutation copy who may pass condition to offspring
Test Specifications and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialty | Pediatrics |
| Department | Genetics |
Pre-Test Requirements and Genetic Counseling
Before testing, we recommend:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree
- Discussion of potential implications for family members
- Understanding of test limitations and possible outcomes
- Informed consent process explaining benefits and risks
Nationwide Accessibility
We have diagnostic centers conveniently located across major cities in the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures accessible genetic testing services for families nationwide.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and management of congenital central hypoventilation syndrome. Our expert genetic counselors and medical professionals are ready to assist you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book the ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test. Early diagnosis can make a significant difference in managing this complex condition effectively.
