ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Respiratory Health
The ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying inherited respiratory disorders affecting infants and children. This specialized genetic test focuses on the ABCA3 gene, which plays a critical role in pulmonary surfactant production and function. Surfactant metabolism dysfunction type 3 is a rare but serious condition that can lead to life-threatening respiratory complications, making early and accurate diagnosis essential for proper medical management.
What This Advanced Genetic Test Detects
Our NGS-based genetic test specifically targets mutations in the ABCA3 gene that disrupt normal surfactant metabolism. The test comprehensively analyzes:
- Pathogenic variants in the ABCA3 gene affecting surfactant protein transport
- Mutations that impair lamellar body formation in type II alveolar cells
- Genetic alterations leading to abnormal surfactant composition and function
- Inherited patterns of surfactant metabolism disorders
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Newborns with unexplained respiratory distress syndrome
- Infants with persistent pulmonary hypertension
- Children with recurrent respiratory failure requiring mechanical ventilation
- Family history of surfactant metabolism disorders
- Siblings of affected individuals for carrier screening
- Patients with unexplained interstitial lung disease in infancy
Clinical Symptoms Indicating Testing Need
- Progressive respiratory distress beginning at birth or early infancy
- Rapid, shallow breathing and cyanosis
- Failure to thrive despite adequate nutrition
- Persistent oxygen requirement beyond the neonatal period
- Abnormal chest imaging showing diffuse lung disease
Significant Benefits of Genetic Testing
Undergoing the ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Provides definitive identification of the underlying genetic cause
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and outcomes
- Early Intervention: Facilitates timely medical management strategies
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your ABCA3 gene status:
- Positive Result: Indicates the presence of pathogenic mutations associated with surfactant metabolism dysfunction
- Negative Result: Suggests no detectable mutations in the analyzed regions of the ABCA3 gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if an individual carries one copy of a mutated gene
Post-Test Guidance
All positive results include detailed interpretation by our genetic specialists, with recommendations for:
- Specialized pulmonary care and monitoring
- Potential surfactant replacement therapy options
- Family member testing recommendations
- Long-term management strategies
- Referral to appropriate medical specialists
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood |
| Testing Method | Next-Generation Sequencing (NGS) |
Pre-Test Requirements
To ensure accurate results and comprehensive care, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of affected family members with similar symptoms
- Informed consent for genetic testing
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, and San Jose. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take Control of Your Respiratory Health Today
Don’t let uncertainty about genetic respiratory conditions affect your family’s wellbeing. Our ABCA3 Gene Surfactant Metabolism Dysfunction Type 3 NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
Early genetic diagnosis can significantly impact treatment outcomes and quality of life for individuals with surfactant metabolism disorders. Take the first step toward definitive answers and targeted care by contacting our team today.
