ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test
Comprehensive Genetic Testing for Breathing Control Disorders
The ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for respiratory control disorders. This advanced test specifically targets the ASCL1 gene, which plays a critical role in the development of neural circuits responsible for automatic breathing control. Congenital Central Hypoventilation Syndrome (CCHS) is a rare but serious condition where affected individuals experience inadequate breathing, particularly during sleep, due to impaired automatic control of respiration.
What Does This Test Measure and Detect?
This comprehensive genetic analysis utilizes Next-Generation Sequencing (NGS) technology to examine the entire coding region of the ASCL1 gene for mutations and variations. The test specifically detects:
- Pathogenic variants in the ASCL1 gene associated with CCHS
- Missense, nonsense, and frameshift mutations
- Small insertions and deletions affecting gene function
- Regulatory region variations impacting gene expression
- Copy number variations within the ASCL1 locus
The ASCL1 gene encodes a transcription factor essential for the development of autonomic nervous system components that regulate breathing. Mutations in this gene disrupt normal respiratory control mechanisms, leading to the characteristic symptoms of CCHS.
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Infants and children with unexplained breathing difficulties during sleep
- Patients with documented hypoventilation without pulmonary or neuromuscular causes
- Individuals with family history of CCHS or sudden infant death syndrome (SIDS)
- Patients requiring mechanical ventilation during sleep without obvious cause
- Children with associated autonomic nervous system dysfunction
- Individuals with Hirschsprung disease and respiratory symptoms
- Patients with tumors of neural crest origin and breathing abnormalities
Key Clinical Symptoms Indicating Testing Need
- Shallow breathing or apnea during sleep
- Bluish discoloration of skin or lips (cyanosis)
- Poor feeding and failure to thrive in infants
- Excessive daytime sleepiness
- Developmental delays
- Temperature regulation abnormalities
- Heart rate variability issues
Benefits of ASCL1 Genetic Testing
Early Diagnosis and Intervention
Early genetic confirmation of CCHS enables timely intervention and appropriate management strategies. This includes:
- Implementation of ventilatory support during sleep
- Development of comprehensive care plans
- Prevention of hypoxic brain injury
- Improved quality of life outcomes
Family Planning and Genetic Counseling
Genetic testing provides valuable information for family planning decisions and enables accurate recurrence risk assessment for future pregnancies.
Comprehensive Clinical Management
Confirmed genetic diagnosis helps guide multidisciplinary care involving pulmonologists, cardiologists, neurologists, and genetic specialists.
Understanding Your Test Results
Positive Result Interpretation
A positive result indicates the presence of a pathogenic mutation in the ASCL1 gene associated with CCHS. This confirmation:
- Provides definitive diagnosis of congenital central hypoventilation syndrome
- Guides appropriate ventilatory management strategies
- Enables genetic counseling for family members
- Helps anticipate and manage associated health complications
Negative Result Interpretation
A negative result suggests that no pathogenic mutations were detected in the ASCL1 gene. However, this does not completely rule out CCHS, as other genetic causes may be involved. Further testing or clinical evaluation may be recommended.
Variant of Uncertain Significance (VUS)
If a genetic variant of uncertain significance is identified, additional family studies and clinical correlation may be necessary to determine its clinical relevance.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | ASCL1 Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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) Technology |
| Specialty | Cardiology, Genetics, Pulmonology |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history including breathing patterns and sleep behaviors
- Detailed family medical history
- Participation in genetic counseling session
- Development of pedigree chart documenting affected family members
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients 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 patients nationwide.
Take Control of Your Respiratory Health
Early genetic diagnosis of congenital central hypoventilation syndrome can significantly improve long-term outcomes and quality of life. Our advanced NGS technology provides comprehensive analysis of the ASCL1 gene with exceptional accuracy and reliability.
Ready to schedule your ASCL1 genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward accurate diagnosis and effective management of breathing control disorders.
Our team of genetic counselors and medical specialists are available to discuss your testing options, answer questions about the procedure, and provide comprehensive support throughout the testing process. Don’t wait – early detection makes a significant difference in managing congenital central hypoventilation syndrome effectively.
