SCNN1A Gene Bronchiectasis with or without Elevated Sweat Chloride Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Respiratory Health
The SCNN1A Gene Bronchiectasis NGS Genetic DNA Test represents a breakthrough in precision medicine for respiratory disorders. This advanced diagnostic tool specifically targets mutations in the SCNN1A gene, which encodes the epithelial sodium channel (ENaC) alpha subunit. When this gene malfunctions, it can lead to abnormal ion transport in the airways, resulting in bronchiectasis with or without elevated sweat chloride levels – a condition that shares clinical features with cystic fibrosis but follows a distinct genetic pathway.
What This Test Measures and Detects
Our comprehensive NGS genetic test provides detailed analysis of:
- Complete sequencing of the SCNN1A gene using next-generation technology
- Identification of pathogenic variants, including missense, nonsense, frameshift, and splice-site mutations
- Detection of both inherited and de novo genetic alterations
- Assessment of variants associated with bronchiectasis and abnormal sweat chloride production
- Comprehensive coverage of all coding regions and critical regulatory elements
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals experiencing:
- Chronic bronchiectasis without identifiable cause
- Recurrent respiratory infections and persistent cough
- Elevated sweat chloride levels without CFTR mutations
- Family history of bronchiectasis or similar respiratory conditions
- Unexplained chronic sinusitis or nasal polyps
- Children or adults with progressive lung disease of unknown origin
- Individuals with atypical cystic fibrosis presentations
Clinical Indications and Symptoms
Patients presenting with the following symptoms may benefit from SCNN1A genetic testing:
- Persistent productive cough with thick mucus
- Recurrent pneumonia or bronchitis
- Shortness of breath and exercise intolerance
- Digital clubbing (enlargement of fingertips)
- Chronic fatigue and poor growth in children
- Abnormal sweat test results without CFTR gene mutations
- Family members of individuals with confirmed SCNN1A mutations
Benefits of SCNN1A Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Accurate Diagnosis: Obtain definitive answers for complex respiratory symptoms
- Personalized Treatment: Guide targeted therapies and management strategies
- Family Planning: Inform reproductive decisions and genetic counseling
- Early Intervention: Enable proactive management before significant lung damage occurs
- Disease Monitoring: Establish baseline for tracking disease progression
- Research Contribution: Advance understanding of rare respiratory genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling support helps you interpret your results:
- Positive Result: Indicates presence of pathogenic SCNN1A mutation(s) associated with bronchiectasis. This confirms the genetic basis of symptoms and guides targeted treatment approaches.
- Negative Result: No disease-causing mutations detected in the SCNN1A gene. This helps exclude this specific genetic cause and directs further diagnostic evaluation.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical impact. Additional family studies or research may be recommended.
- Carrier Status: Determines if you carry one copy of a mutated gene, which may have implications for family members.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SCNN1A Gene Bronchiectasis with or without Elevated Sweat Chloride Type 2 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
To ensure optimal testing outcomes, we require:
- Complete clinical history of the patient
- Genetic counseling session to create detailed family pedigree
- Documentation of symptoms and previous diagnostic tests
- Informed consent for genetic testing
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 collection centers ensures easy access to this advanced genetic testing regardless of your location.
Take Control of Your Respiratory Health Today
Don’t let unexplained respiratory symptoms control your life. Our SCNN1A genetic testing provides the clarity needed for proper diagnosis and targeted treatment. With our discounted price of only $500 USD, advanced genetic insights are more accessible than ever.
Ready to begin your journey to better respiratory health? Book your SCNN1A Genetic DNA Test today by calling our dedicated healthcare team at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic profile and optimizing your treatment strategy.
