SLC12A7 Gene Bartter Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Kidney Disorders
The SLC12A7 Gene Bartter Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney disorders. This advanced test specifically targets mutations in the SLC12A7 gene, which encodes the NKCC1 cotransporter protein crucial for maintaining proper electrolyte balance in the kidneys and other tissues. Bartter syndrome type 4a, associated with SLC12A7 mutations, is a rare autosomal recessive condition that affects multiple organ systems including the kidneys, inner ear, and endocrine system.
What Does This Test Detect?
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the entire SLC12A7 gene for pathogenic variants. The test identifies:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations
- Splice site mutations affecting gene expression
- Novel genetic variants with potential clinical significance
Clinical Significance of SLC12A7 Mutations
Mutations in the SLC12A7 gene disrupt the function of the NKCC1 cotransporter, leading to impaired sodium, potassium, and chloride reabsorption in the thick ascending limb of the kidney’s loop of Henle. This results in the characteristic features of Bartter syndrome, including salt wasting, polyuria, and metabolic alkalosis.
Who Should Consider This Test?
This genetic test 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
- Growth retardation in children
- Sensorineural hearing loss
- Family history of Bartter syndrome or similar kidney disorders
- Unexplained hypokalemia and metabolic alkalosis
- Prenatal cases with polyhydramnios
Early Detection Benefits
Early genetic diagnosis through this test enables timely intervention and management strategies that can significantly improve quality of life and prevent long-term complications associated with untreated Bartter syndrome.
Key Benefits of SLC12A7 Genetic Testing
- Definitive Diagnosis: Provides conclusive genetic evidence for Bartter syndrome type 4a
- Personalized Treatment: Enables tailored electrolyte replacement and medication regimens
- Family Planning: Identifies carrier status and recurrence risks for future pregnancies
- Early Intervention: Facilitates proactive management to prevent complications
- Comprehensive Analysis: NGS technology ensures high detection rate for various mutation types
- Clinical Correlation: Helps differentiate between different types of Bartter syndrome
Understanding Your Test Results
Your genetic test report will provide detailed information about any identified variants in the SLC12A7 gene. Results are typically categorized as:
Positive Result Interpretation
- Pathogenic Variants: Confirms diagnosis of Bartter syndrome type 4a
- Likely Pathogenic Variants: Strong evidence supporting disease association
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
Negative Result Interpretation
- No Detected Variants: Suggests alternative diagnoses should be considered
- Variants of Uncertain Significance: Requires further clinical correlation and family studies
Post-Test Genetic Counseling
All positive results include comprehensive genetic counseling to help patients and families understand the implications, inheritance patterns, and management strategies for Bartter syndrome.
Test Details and Pricing
| Test Component | Details |
|---|---|
| Test Name | SLC12A7 Gene Bartter Syndrome NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
| Specialties Involved | Hepatology, Nephrology, Endocrinology, Genetics |
Pre-Test Requirements
Before scheduling your SLC12A7 genetic test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of test implications and potential outcomes
- Informed consent for genetic testing
Nationwide Testing Availability
We proudly offer the SLC12A7 Gene Bartter Syndrome NGS Genetic DNA Test at our state-of-the-art facilities across the United States. Our testing centers are conveniently located in major metropolitan areas including:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic kidney disorders affect your quality of life. Our comprehensive SLC12A7 genetic testing provides the answers you need for proper diagnosis and management. With our discounted price of $500 USD, advanced genetic testing is more accessible than ever.
Ready to schedule your test? Contact our genetic specialists today:
Call or WhatsApp: +1(267) 388-9828
Our experienced genetic counselors are available to answer your questions, discuss testing options, and help you understand the process. Take the first step toward definitive diagnosis and personalized care for Bartter syndrome.
