SFTPB Gene Surfactant Metabolism Dysfunction Type 1 NGS Genetic DNA Test
Comprehensive Introduction to SFTPB Genetic Testing
The SFTPB Gene Surfactant Metabolism Dysfunction Type 1 NGS Genetic DNA Test represents a breakthrough in diagnostic precision for rare metabolic disorders affecting respiratory function. This advanced genetic analysis specifically targets mutations in the SFTPB gene, which plays a critical role in producing pulmonary surfactant—a vital substance that reduces surface tension in the lungs and prevents alveolar collapse during breathing. Understanding genetic predispositions to surfactant metabolism dysfunction is essential for early intervention and personalized treatment approaches.
What This Test Measures and Detects
Our comprehensive NGS-based genetic test meticulously analyzes the SFTPB gene to identify:
- Pathogenic variants and mutations in the SFTPB gene sequence
- Single nucleotide polymorphisms (SNPs) affecting surfactant protein B production
- Deletions, insertions, and duplications within the gene structure
- Genetic markers associated with impaired surfactant metabolism
- Inheritance patterns for family genetic counseling
Who Should Consider This Genetic Test
This specialized genetic test is particularly recommended for individuals presenting with:
- Newborns and infants with unexplained respiratory distress syndrome
- Family history of surfactant metabolism disorders or neonatal respiratory complications
- Persistent respiratory symptoms despite conventional treatment
- History of recurrent pulmonary infections in early childhood
- Suspected inherited metabolic lung disorders
- Unexplained chronic lung disease in pediatric patients
Significant Benefits of Genetic Testing
Undergoing the SFTPB genetic test provides numerous advantages:
- Early Diagnosis: Enables prompt identification of genetic predisposition to surfactant dysfunction
- Personalized Treatment: Guides development of targeted therapeutic strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Proactive Management: Facilitates early intervention to prevent severe complications
- Comprehensive Understanding: Offers clarity on underlying causes of respiratory symptoms
- Medical Guidance: Supports healthcare providers in creating effective care plans
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your SFTPB gene status:
- Positive Result: Indicates presence of pathogenic variants associated with surfactant metabolism dysfunction type 1, requiring specialized medical management
- Negative Result: Suggests absence of known SFTPB gene mutations, though clinical correlation with symptoms remains essential
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications, requiring ongoing monitoring
- Carrier Status: Determines if you carry one copy of a mutated gene, important for family planning considerations
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | SFTPB Gene Surfactant Metabolism Dysfunction Type 1 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 |
Pre-Test Requirements and Preparation
To ensure optimal testing accuracy, we recommend:
- Comprehensive clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of potential implications and limitations of genetic testing
- Informed consent process explaining test purpose and possible outcomes
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 numerous other cities. Our network of certified genetic testing facilities ensures accessible, reliable service nationwide.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic predispositions to surfactant metabolism disorders affect your health decisions. Our specialized SFTPB genetic test provides the clarity needed for informed medical management and family planning. With our discounted price of $500 USD and comprehensive NGS technology, you can access cutting-edge genetic analysis with confidence.
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.
