SLC12A3 Gene Gitelman Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Kidney Electrolyte Disorders
The SLC12A3 Gene Gitelman Syndrome NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying mutations in the SLC12A3 gene, which encodes the thiazide-sensitive sodium-chloride cotransporter (NCC) in the distal convoluted tubule of the kidney. This sophisticated genetic test utilizes next-generation sequencing technology to provide comprehensive analysis of the entire SLC12A3 gene, enabling precise detection of pathogenic variants responsible for Gitelman syndrome—an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria.
What This Advanced Genetic Test Detects
Our SLC12A3 Gene Gitelman Syndrome NGS Genetic DNA Test specifically identifies:
- Pathogenic mutations in the SLC12A3 gene affecting sodium-chloride cotransporter function
- Autosomal recessive inheritance patterns for Gitelman syndrome
- Specific genetic variants including missense, nonsense, frameshift, and splice-site mutations
- Compound heterozygous mutations requiring analysis of both gene copies
- Genetic markers associated with variable clinical presentations and disease severity
Who Should Consider This Genetic Testing
This comprehensive genetic test is recommended for individuals presenting with:
- Persistent hypokalemia (low potassium levels) without obvious cause
- Chronic hypomagnesemia (low magnesium levels) resistant to supplementation
- Metabolic alkalosis with normal blood pressure
- Family history of Gitelman syndrome or similar electrolyte disorders
- Unexplained muscle weakness, cramps, or fatigue
- Cardiac arrhythmias related to electrolyte imbalances
- Suspected renal tubular disorders in childhood or adulthood
- Positive family screening for autosomal recessive conditions
Significant Benefits of Genetic Testing
Undergoing the SLC12A3 Gene Gitelman Syndrome NGS Genetic DNA Test provides numerous advantages:
- Definitive Diagnosis: Confirms Gitelman syndrome with molecular precision, eliminating diagnostic uncertainty
- Personalized Treatment: Enables targeted electrolyte replacement therapy and medication adjustments
- Family Planning: Provides crucial information for genetic counseling and reproductive decision-making
- Proactive Management: Facilitates early intervention to prevent complications like cardiac arrhythmias
- Carrier Detection: Identifies asymptomatic carriers within families for comprehensive genetic assessment
- Differential Diagnosis: Distinguishes Gitelman syndrome from similar conditions like Bartter syndrome
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identification of pathogenic mutations in both SLC12A3 gene copies confirms Gitelman syndrome diagnosis
- Carrier Status: Detection of a single pathogenic mutation indicates carrier status without disease manifestation
- Negative Result: No pathogenic mutations detected suggests alternative causes for clinical symptoms
- Variant of Uncertain Significance: Identified genetic changes require further clinical correlation and family studies
All results include detailed genetic counseling recommendations and clinical management guidance tailored to your specific genetic findings.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| SLC12A3 Gene Gitelman Syndrome NGS Genetic DNA Test – Discount Price | $500 |
| SLC12A3 Gene Gitelman Syndrome NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Accessibility
We proudly offer the SLC12A3 Gene Gitelman Syndrome NGS Genetic DNA Test across our extensive network of testing facilities throughout the United States. Our state-of-the-art laboratories serve patients in:
- New York, NY and surrounding metropolitan areas
- Los Angeles, CA and Southern California regions
- Chicago, IL and Midwest locations
- Houston, TX and Gulf Coast areas
- Phoenix, AZ and Southwest territories
- Philadelphia, PA and Northeast corridors
- All other major US cities and regional centers
Take Control of Your Genetic Health Today
Don’t let unexplained electrolyte imbalances and renal symptoms remain a mystery. Our SLC12A3 Gene Gitelman Syndrome 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 gain valuable insights into your condition and take proactive steps toward better health.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic counseling team. Our specialists are ready to guide you through the testing process and help you understand your results for informed healthcare decisions.
Turnaround Time: 3 to 4 Weeks | Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
