SLC12A5 Gene Bartter Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Kidney Disorders
The SLC12A5 Gene Bartter Syndrome NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited kidney conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify mutations in the SLC12A5 gene, which encodes the potassium-chloride cotransporter KCC2. When this gene malfunctions, it leads to Bartter syndrome type 4b, a rare autosomal recessive disorder affecting kidney tubule function and electrolyte balance.
What This Test Measures and Detects
Our comprehensive NGS analysis targets the complete coding region of the SLC12A5 gene to identify:
- Pathogenic variants including missense, nonsense, and frameshift mutations
- Small insertions and deletions affecting gene function
- Splice site variants that disrupt normal protein production
- Copy number variations within the SLC12A5 genomic region
- Compound heterozygous mutations contributing to disease manifestation
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Persistent polyuria (excessive urination) and polydipsia (excessive thirst)
- Chronic salt craving and electrolyte imbalances
- Muscle weakness, cramps, or tetany episodes
- Growth retardation in children and developmental delays
- Family history of Bartter syndrome or unexplained kidney disorders
- Unexplained hypokalemia (low potassium) and metabolic alkalosis
- Renal salt wasting without hypertension
- Suspected inherited tubulopathies affecting kidney function
Clinical Benefits of Genetic Testing
Undergoing the SLC12A5 Gene Bartter Syndrome NGS Genetic DNA Test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Bartter syndrome type 4b with molecular precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of kidney complications
- Comprehensive Analysis: NGS technology offers superior detection rates compared to traditional methods
- Clinical Correlation: Helps differentiate between various forms of Bartter syndrome
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic variants in the SLC12A5 gene, confirming Bartter syndrome type 4b diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring additional clinical evaluation
- Carrier Status: Determines if you carry one copy of a mutated gene without disease symptoms
All results are accompanied by detailed clinical implications and recommendations for follow-up care. Our genetic counselors provide comprehensive support to help you understand your results and their impact on your health management.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC12A5 Gene Bartter Syndrome NGS Genetic DNA Test | 500 USD | 700 USD |
Nationwide Testing Availability
We have diagnostic centers conveniently located 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 certified laboratories maintain the highest standards of quality and accuracy in genetic testing.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney conditions affect your quality of life. Our SLC12A5 Gene Bartter Syndrome NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With results available in just 3-4 weeks and comprehensive genetic counseling support, you’ll have the information necessary to manage your health proactively.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic testing appointment or to speak with our genetic specialists about your testing options.
Our team is ready to assist you with sample collection, whether through blood draw, extracted DNA analysis, or convenient FTA card blood spot testing. Take the first step toward genetic clarity and personalized healthcare management.
