SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Kidney Disorders
The SLC12A1 Gene Bartter Syndrome Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited kidney conditions. This advanced genetic screening utilizes state-of-the-art Next-Generation Sequencing technology to identify specific mutations in the SLC12A1 gene, which plays a critical role in kidney function and electrolyte balance regulation.
What Does This Test Measure?
This comprehensive genetic analysis specifically targets the SLC12A1 gene, which encodes the sodium-potassium-chloride cotransporter (NKCC2) protein. The test detects:
- Point mutations and single nucleotide variants
- Insertions and deletions in the gene sequence
- Copy number variations affecting gene function
- Pathogenic variants associated with Bartter syndrome type 1
Who Should Consider This Test?
This genetic screening is recommended for individuals presenting with:
- Persistent polyuria (excessive urine production)
- Chronic dehydration and salt craving
- Muscle weakness and cramping
- Growth retardation in children
- Family history of kidney disorders
- Unexplained electrolyte imbalances
- Renal tubular dysfunction symptoms
Clinical Benefits of Genetic Testing
Undergoing the SLC12A1 genetic test provides numerous advantages:
- Definitive diagnosis of Bartter syndrome type 1
- Personalized treatment planning based on genetic findings
- Early intervention to prevent complications
- Family planning guidance for affected individuals
- Improved management of electrolyte imbalances
- Reduced diagnostic uncertainty and unnecessary testing
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors:
- Positive Result: Indicates the presence of pathogenic SLC12A1 mutations, confirming Bartter syndrome type 1 diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the SLC12A1 gene
- Variant of Uncertain Significance: Requires additional clinical correlation and family studies
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Health Today
Don’t let uncertainty about genetic kidney conditions affect your quality of life. Our expert team of genetic counselors and medical professionals are ready to guide you through the testing process and help you understand your results. Early detection through genetic testing can significantly improve treatment outcomes and provide peace of mind.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your SLC12A1 genetic test and take the first step toward definitive diagnosis and personalized care.
Note: Turnaround time for results is typically 3-4 weeks. Sample collection options include blood draw, extracted DNA, or one drop of blood on FTA card. Pre-test genetic counseling is recommended to discuss family history and create a pedigree chart.
