SLC4A5 Gene Renal Tubular Acidosis NGS Genetic DNA Test
Comprehensive Genetic Analysis for Kidney Acid-Base Disorders
The SLC4A5 Gene Renal Tubular Acidosis NGS Genetic DNA Test represents a cutting-edge diagnostic tool in the field of nephrology and genetic medicine. This specialized test focuses on identifying mutations in the SLC4A5 gene, which plays a critical role in maintaining proper acid-base balance within the kidneys. Renal tubular acidosis (RTA) caused by SLC4A5 gene mutations represents a significant challenge in clinical practice, often requiring precise genetic diagnosis for optimal patient management.
What This Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the SLC4A5 gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the SLC4A5 gene
- Genetic variations affecting sodium bicarbonate cotransporter function
- Mutations associated with autosomal dominant distal renal tubular acidosis
- Variants impacting kidney’s ability to acidify urine properly
- Genetic markers linked to progressive kidney damage and electrolyte imbalances
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with the following symptoms or clinical scenarios:
- Unexplained metabolic acidosis with normal anion gap
- Growth retardation and failure to thrive in children
- Recurrent kidney stones or nephrocalcinosis
- Persistent hypokalemia (low potassium levels)
- Family history of renal tubular acidosis or kidney disorders
- Unexplained electrolyte imbalances despite normal kidney function
- Progressive kidney disease of unknown etiology
- Patients with hearing loss and kidney dysfunction
Key Benefits of SLC4A5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of SLC4A5-related renal tubular acidosis
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Offers valuable information for genetic counseling and family planning decisions
- Early Intervention: Facilitates early detection and management to prevent complications
- Disease Monitoring: Helps establish baseline for monitoring disease progression
- Research Contribution: Contributes to ongoing research in genetic kidney disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and nephrology specialists. Results typically fall into three categories:
- Positive Result: Indicates the presence of a pathogenic mutation in the SLC4A5 gene, confirming the genetic basis of renal tubular acidosis
- Negative Result: Suggests no detectable mutations in the SLC4A5 gene, though other genetic or acquired causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes whose clinical significance is currently unknown, requiring further evaluation
All results include comprehensive interpretation and recommendations for next steps in clinical management.
Test Pricing Information
| Test Name | Regular Price | Discount Price |
|---|---|---|
| SLC4A5 Gene Renal Tubular Acidosis NGS Genetic DNA Test | $700 USD | $500 USD |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including 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 testing standards nationwide.
Take Control of Your Kidney Health Today
Don’t let unexplained kidney symptoms go undiagnosed. Our SLC4A5 Gene Renal Tubular Acidosis NGS Genetic DNA Test provides the clarity you need for proper diagnosis and management. With a turnaround time of 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, getting tested has never been more convenient.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our dedicated team is ready to help you understand your genetic risks and take proactive steps toward better kidney health.
