SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Analysis for Salt-Wasting Disorders
The SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying inherited salt-wasting conditions. This specialized test focuses on the SCNN1A gene, which encodes the epithelial sodium channel alpha subunit critical for sodium reabsorption in the kidneys, sweat glands, and other epithelial tissues. Pseudohypoaldosteronism type 1 is a rare autosomal recessive disorder characterized by renal resistance to aldosterone, leading to potentially life-threatening electrolyte imbalances.
What This Test Measures and Detects
Our advanced Next Generation Sequencing (NGS) technology provides comprehensive analysis of the SCNN1A gene to identify:
- Pathogenic mutations in the SCNN1A gene coding regions
- Autosomal recessive inheritance patterns
- Missense, nonsense, frameshift, and splice-site mutations
- Copy number variations affecting sodium channel function
- Genetic variants associated with systemic pseudohypoaldosteronism
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Persistent hyponatremia (low sodium levels) despite adequate salt intake
- Hyperkalemia (elevated potassium levels) without renal impairment
- Failure to thrive in infancy or childhood
- Recurrent dehydration episodes
- Family history of salt-wasting disorders
- Unexplained metabolic acidosis
- Elevated plasma renin and aldosterone levels
- Respiratory symptoms suggesting multi-system involvement
Clinical Benefits of Genetic Testing
Undergoing the SCNN1A gene test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms pseudohypoaldosteronism type 1 with molecular precision
- Treatment Guidance: Informs targeted sodium supplementation and medication strategies
- Family Planning: Enables genetic counseling for affected families
- Prognostic Information: Helps predict disease severity and progression
- Differential Diagnosis: Distinguishes from other salt-wasting conditions
- Preventive Care: Facilitates early intervention to prevent complications
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutations confirming pseudohypoaldosteronism type 1 diagnosis
- Negative Result: No disease-causing variants detected in the SCNN1A gene
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact
- Carrier Status: Determines if you carry one copy of a mutated gene
All results are accompanied by detailed clinical correlations and management recommendations from our board-certified genetic specialists.
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive 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
Before scheduling your 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 their significance
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 collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about salt-wasting symptoms affect your quality of life. Our specialized SCNN1A genetic testing provides definitive answers and clear treatment pathways. With our discounted price of $500 USD (regularly $700 USD), advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your SCNN1A Gene Pseudohypoaldosteronism Type 1 NGS Genetic DNA Test. Our genetic specialists are ready to guide you through every step of the testing process and help you understand your results for better health management.
