NR3C2 Gene Pseudohypoaldosteronism Type 1 Autosomal Dominant NGS Genetic DNA Test
Comprehensive Genetic Testing for Mineralocorticoid Resistance Disorders
The NR3C2 Gene Pseudohypoaldosteronism Type 1 Autosomal Dominant NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations responsible for pseudohypoaldosteronism type 1. This specialized genetic analysis focuses on the NR3C2 gene, which encodes the mineralocorticoid receptor crucial for maintaining electrolyte balance and blood pressure regulation. Through advanced next-generation sequencing technology, our laboratory provides precise detection of autosomal dominant mutations that disrupt normal mineralocorticoid signaling pathways.
What This Test Measures and Detects
This comprehensive genetic test specifically targets the NR3C2 gene located on chromosome 4q31.23, analyzing its complete coding regions and flanking intronic sequences to identify pathogenic variants. The test detects:
- Point mutations affecting mineralocorticoid receptor function
- Frameshift mutations disrupting receptor binding domains
- Nonsense mutations leading to truncated protein products
- Missense mutations altering receptor-ligand interactions
- Splice site variants affecting mRNA processing
Clinical Indications: Who Should Consider This Test
This genetic test is particularly recommended for individuals presenting with:
- Persistent hyponatremia and hyperkalemia despite normal aldosterone levels
- Salt-wasting symptoms in infancy or early childhood
- Failure to thrive with unexplained electrolyte imbalances
- Family history of pseudohypoaldosteronism type 1
- Resistance to mineralocorticoid therapy
- Unexplained renal salt wasting in adults
- Hypertension with paradoxical electrolyte abnormalities
Significant Benefits of Genetic Testing
Undergoing the NR3C2 genetic test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms pseudohypoaldosteronism type 1 with molecular precision
- Family Planning: Enables informed reproductive decisions for affected families
- Personalized Treatment: Guides targeted therapeutic interventions
- Prognostic Information: Helps predict disease progression and complications
- Genetic Counseling: Provides basis for comprehensive family risk assessment
- Early Intervention: Facilitates prompt management of electrolyte disorders
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your NR3C2 gene analysis:
- Positive Result: Indicates presence of pathogenic NR3C2 mutation confirming pseudohypoaldosteronism type 1 diagnosis
- Negative Result: Suggests alternative causes for clinical symptoms requiring further investigation
- Variant of Uncertain Significance: Requires additional family studies and functional analysis
- Carrier Status: Important for family members and reproductive planning
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Component | Price (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 Accessibility
We maintain comprehensive testing facilities across the United States, with specialized collection centers in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Pre-Test Requirements
Prior to testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to establish family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process for genetic analysis
Schedule Your Genetic Test Today
Take the first step toward precise diagnosis and personalized management of pseudohypoaldosteronism type 1. Our expert genetic counselors and clinical specialists are ready to assist you throughout the testing process. Contact us now to schedule your NR3C2 genetic test and begin your journey toward comprehensive genetic understanding.
Call or WhatsApp: +1(267) 388-9828
Our genetic specialists are available to discuss testing options, answer questions, and help you book your appointment at a convenient location near you.
