CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Respiratory Health
The CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for respiratory disorders. This advanced testing method utilizes Next-Generation Sequencing technology to examine the CSF2RA gene, which plays a critical role in surfactant metabolism—a vital process for maintaining healthy lung function. Surfactant is a complex mixture of lipids and proteins that reduces surface tension in the alveoli, preventing lung collapse during exhalation.
What This Test Measures and Detects
This sophisticated genetic test specifically targets mutations and variations in the CSF2RA gene located on the X chromosome. The CSF2RA gene encodes the alpha chain of the granulocyte-macrophage colony-stimulating factor receptor, which is essential for proper surfactant production and function in pulmonary alveoli. The test identifies:
- Point mutations and single nucleotide variants
- Insertions and deletions in the CSF2RA gene
- Copy number variations affecting gene function
- Pathogenic variants associated with surfactant metabolism dysfunction
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Newborns and infants with unexplained respiratory distress syndrome
- Children experiencing persistent breathing difficulties despite treatment
- Patients with family history of surfactant metabolism disorders
- Individuals with suspected interstitial lung disease of unknown origin
- Those with abnormal chest imaging findings suggestive of surfactant dysfunction
- Patients requiring differential diagnosis from other respiratory conditions
Key Symptoms and Clinical Indicators
Clinical manifestations that may warrant CSF2RA gene testing include:
- Progressive respiratory failure in infancy
- Chronic tachypnea (rapid breathing)
- Recurrent cyanosis (bluish skin discoloration)
- Failure to thrive despite adequate nutrition
- Abnormal lung sounds and crackles
- Persistent oxygen requirement
- Family history of similar respiratory conditions
Benefits of CSF2RA Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out surfactant metabolism dysfunction type 4 with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates timely management strategies to improve outcomes
- Disease Prognosis: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare genetic respiratory disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your CSF2RA gene test results:
- Positive Result: Indicates the presence of pathogenic variants associated with surfactant metabolism dysfunction type 4, requiring specialized medical management
- Negative Result: Suggests no detected mutations in the CSF2RA gene, though clinical correlation with symptoms is essential
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines inheritance patterns and risk for future generations
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
Before scheduling your CSF2RA genetic test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
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, San Jose, and many more cities. Our network of certified genetic testing facilities ensures accessibility and consistent quality standards nationwide.
Take Control of Your Respiratory Health Today
Don’t let unexplained respiratory symptoms compromise your quality of life. Our CSF2RA Gene Surfactant Metabolism Dysfunction Type 4 NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic counseling support, you can make informed decisions about your health care journey.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
