CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 NGS Genetic DNA Test
Understanding CSF2RB Gene Testing
The CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare pulmonary disorders. This comprehensive analysis focuses on the colony stimulating factor 2 receptor beta (CSF2RB) gene, which plays a critical role in surfactant metabolism regulation. Surfactant metabolism dysfunction type 5 is a rare autosomal recessive disorder characterized by impaired pulmonary surfactant production, leading to severe respiratory distress syndrome in newborns and infants.
What This Test Measures and Detects
Our advanced NGS genetic testing specifically targets:
- Comprehensive sequencing of the CSF2RB gene to identify pathogenic variants
- Detection of mutations affecting surfactant protein production and function
- Identification of autosomal recessive inheritance patterns
- Analysis of genetic markers associated with pulmonary surfactant deficiency
- Assessment of mutation impact on alveolar type II cell function
Clinical Significance
The CSF2RB gene encodes the beta subunit of the granulocyte-macrophage colony-stimulating factor receptor, essential for proper surfactant metabolism. Mutations in this gene disrupt normal pulmonary surfactant production, leading to life-threatening respiratory complications that typically manifest shortly after birth.
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Newborns with unexplained respiratory distress syndrome
- Infants with persistent pulmonary hypertension
- Family history of surfactant metabolism disorders
- Consanguineous parents with previous affected children
- Unexplained neonatal respiratory failure
- Progressive interstitial lung disease in infancy
- Recurrent pulmonary infections in early childhood
Symptoms Indicating Testing Need
- Severe respiratory distress within hours of birth
- Cyanosis and oxygen dependency
- Abnormal chest X-ray findings
- Failure to thrive despite adequate nutrition
- Persistent tachypnea and retractions
- Family history of neonatal respiratory deaths
Benefits of CSF2RB Genetic Testing
Early genetic diagnosis through our comprehensive testing provides numerous advantages:
- Early Intervention: Enables prompt treatment initiation to improve outcomes
- Family Planning: Provides crucial information for future reproductive decisions
- Personalized Care: Guides targeted therapeutic approaches
- Prognostic Information: Helps predict disease progression and complications
- Genetic Counseling: Supports families in understanding inheritance patterns
- Research Contribution: Advances understanding of rare pulmonary disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides clear, actionable results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic mutations in the CSF2RB gene. This confirms the diagnosis of surfactant metabolism dysfunction type 5 and enables:
- Implementation of specialized respiratory support
- Consideration of surfactant replacement therapy
- Family member screening recommendations
- Long-term pulmonary management planning
Negative Result Interpretation
A negative result suggests no detectable mutations in the CSF2RB gene. However, clinical correlation remains essential, as other genetic or environmental factors may contribute to similar symptoms.
Variant of Uncertain Significance
Some genetic changes may require additional family studies or functional analysis to determine clinical significance. Our genetic counseling team provides comprehensive guidance for these scenarios.
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session with pedigree analysis
- Family member clinical evaluation when indicated
- Review of previous diagnostic studies
Nationwide Accessibility
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 genetic counselors and healthcare providers ensures comprehensive care regardless of your location.
Take Action Today
Don’t wait to get the answers you need for proper diagnosis and treatment. Our experienced genetic specialists are ready to guide you through the testing process and provide the comprehensive care your family deserves.
Call us now at +1(267) 388-9828 to schedule your genetic counseling session or book your CSF2RB Gene Surfactant Metabolism Dysfunction Type 5 NGS Genetic DNA Test today. Early detection can make a significant difference in managing this rare metabolic disorder and improving quality of life.
