SCNN1B Gene Liddle Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Hypertension Disorders
The SCNN1B Gene Liddle Syndrome NGS Genetic DNA Test represents a breakthrough in precision medicine for diagnosing rare inherited forms of hypertension. This advanced genetic test specifically targets mutations in the SCNN1B gene, which encodes the beta subunit of the epithelial sodium channel (ENaC). When this gene malfunctions, it leads to Liddle syndrome – a serious autosomal dominant condition characterized by severe, treatment-resistant hypertension that typically manifests in childhood or early adulthood.
What Does This Test Measure and Detect?
Our comprehensive NGS-based analysis examines the entire coding region of the SCNN1B gene to identify:
- Pathogenic mutations affecting sodium channel function
- Single nucleotide variants (SNVs) and small insertions/deletions
- Genetic variations that cause constitutive activation of ENaC channels
- Specific mutations in the PY motif that disrupt normal channel regulation
- Variants associated with increased sodium reabsorption in renal tubules
The test utilizes state-of-the-art Next Generation Sequencing technology, providing unparalleled accuracy in detecting even rare genetic variants that conventional methods might miss.
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with:
- Early-onset hypertension (before age 30)
- Treatment-resistant high blood pressure despite multiple medications
- Unexplained hypokalemia (low potassium levels)
- Metabolic alkalosis without apparent cause
- Family history of early cardiovascular disease or hypertension
- Multiple family members with similar hypertensive patterns
- Normal or suppressed plasma renin and aldosterone levels
- Suspected mineralocorticoid excess syndromes
Clinical Benefits of SCNN1B Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Liddle syndrome with high accuracy
- Targeted Treatment: Enables specific therapy with ENaC blockers like amiloride
- Family Risk Assessment: Identifies at-risk relatives for early intervention
- Prevention of Complications: Helps prevent stroke, heart disease, and kidney damage
- Personalized Management: Guides lifelong monitoring and care strategies
- Genetic Counseling: Provides basis for informed reproductive decisions
Understanding Your Test Results
Our comprehensive genetic counseling ensures you fully understand your results:
- Positive Result: Indicates a pathogenic mutation in the SCNN1B gene, confirming Liddle syndrome diagnosis and guiding specific treatment approaches
- Negative Result: Suggests Liddle syndrome is unlikely, directing investigation toward other causes of hypertension
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for family planning and genetic counseling
All results are interpreted by board-certified genetic specialists who provide detailed explanations and personalized recommendations.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SCNN1B Gene Liddle Syndrome NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
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. Our network of certified genetic counselors and phlebotomy centers ensures accessible, high-quality care regardless of your location.
Take Control of Your Health Today
Don’t let unexplained hypertension compromise your quality of life. Our SCNN1B Gene Liddle Syndrome NGS Genetic DNA Test provides the answers you need for proper diagnosis and targeted treatment. With results available in just 3-4 weeks and comprehensive pre-test genetic counseling included, you’ll receive the expert guidance necessary to make informed healthcare decisions.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our compassionate team is ready to help you understand your genetic health and take the next steps toward better management of your condition.
