SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive NGS Genetic DNA Test
Comprehensive Genetic Testing for Salt-Wasting Disorders
The SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare endocrine disorders. 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 due to autosomal recessive inheritance patterns, it leads to pseudohypoaldosteronism type 1—a severe salt-wasting condition that can be life-threatening if undiagnosed.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire SCNN1B gene to identify:
- Point mutations affecting sodium channel function
- Frameshift mutations disrupting protein structure
- Nonsense mutations leading to premature stop codons
- Missense mutations altering critical amino acids
- Splice site variants affecting mRNA processing
- Small insertions and deletions impacting gene function
The test provides complete coverage of all coding regions, exon-intron boundaries, and known regulatory elements of the SCNN1B gene, ensuring comprehensive mutation detection with exceptional accuracy exceeding 99.9%.
Who Should Consider This Genetic Test
This specialized DNA test is recommended for individuals presenting with:
- Infants and children with failure to thrive and poor weight gain
- Patients experiencing severe dehydration episodes despite adequate fluid intake
- Individuals with persistent hyponatremia (low blood sodium)
- Cases of hyperkalemia (elevated blood potassium) without renal impairment
- Patients with metabolic acidosis and electrolyte imbalances
- Those with elevated plasma renin and aldosterone levels
- Individuals with family history of pseudohypoaldosteronism or salt-wasting disorders
- Unexplained salt craving and excessive salt consumption
Clinical Benefits of SCNN1B Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms pseudohypoaldosteronism type 1 with molecular precision
- Personalized Treatment: Enables targeted sodium supplementation and electrolyte management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt treatment to prevent life-threatening complications
- Differential Diagnosis: Distinguishes from other salt-wasting disorders and adrenal conditions
- Prognostic Information: Helps predict disease severity and long-term management needs
Understanding Your Test Results
Our comprehensive genetic report provides clear, actionable information:
- Positive Result: Identifies pathogenic mutations confirming pseudohypoaldosteronism type 1 diagnosis
- Negative Result: No disease-causing mutations detected in SCNN1B gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Detects individuals carrying one mutated copy who may pass the condition to offspring
All results include detailed interpretation by our board-certified genetic counselors and clinical geneticists, with specific recommendations for management and follow-up care.
Test Pricing and Availability
| Price Type | Amount (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
Nationwide Testing Availability
We have conveniently located testing centers across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure consistent, high-quality genetic testing with rapid turnaround times.
Pre-Test Requirements
Before scheduling your SCNN1B genetic test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Identification of family members affected by pseudohypoaldosteronism symptoms
- Review of current medications and medical conditions
Take Control of Your Genetic Health Today
Don’t let uncertainty about salt-wasting symptoms affect your quality of life. Our SCNN1B Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive NGS Genetic DNA Test provides the definitive answers you need for proper diagnosis and management. With our discounted price of $500 USD and comprehensive genetic analysis, you can make informed decisions about your health and future.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized treatment.
