SLC12A3 Gene Bartter Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bartter Syndrome Diagnosis
The SLC12A3 Gene Bartter Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited kidney disorders. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the SLC12A3 gene, which encodes the thiazide-sensitive sodium-chloride cotransporter (NCC) crucial for renal electrolyte balance. Bartter syndrome type 3, caused by SLC12A3 mutations, is an autosomal recessive condition characterized by salt-wasting nephropathy and significant electrolyte disturbances.
What This Test Measures and Detects
Our comprehensive NGS genetic analysis specifically targets the SLC12A3 gene to identify:
- Point mutations affecting sodium-chloride cotransporter function
- Deletions and insertions disrupting gene structure
- Splice site variants impacting protein production
- Compound heterozygous mutations causing clinical manifestations
- Pathogenic variants associated with Gitelman syndrome spectrum
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This genetic evaluation is recommended for individuals presenting with:
- Persistent hypokalemic metabolic alkalosis
- Chronic salt craving and polyuria
- Muscle weakness, cramps, or tetany
- Growth retardation in pediatric patients
- Family history of electrolyte disorders
- Unexplained hypomagnesemia and hypocalciuria
- Normal or low blood pressure despite electrolyte abnormalities
Significant Benefits of Genetic Testing
Undergoing the SLC12A3 genetic analysis provides multiple advantages:
- Accurate Diagnosis: Confirms Bartter syndrome type 3 with molecular precision
- Personalized Treatment: Enables targeted electrolyte replacement therapy
- Family Planning: Provides crucial information for genetic counseling
- Prognostic Insights: Helps predict disease progression and complications
- Differential Diagnosis: Distinguishes from other salt-wasting nephropathies
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of findings:
- Positive Result: Identifies pathogenic variants confirming diagnosis
- Negative Result: No detected mutations, suggesting alternative diagnoses
- Variant of Uncertain Significance: Requires clinical correlation
- Carrier Status: Identifies individuals with single mutation copies
All results are accompanied by genetic counseling recommendations and clinical management guidance from our expert team.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing 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 cities. Our network ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic conditions affect your quality of life. Our SLC12A3 Gene Bartter Syndrome NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or FTA card blood spots, getting tested has never been more convenient.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our genetic specialists are ready to guide you through the testing process and help you understand your results.
