SLC12A2 Gene Bartter Syndrome NGS Genetic DNA Test
Comprehensive Genetic Testing for Kidney and Electrolyte Disorders
The SLC12A2 Gene Bartter Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for complex renal and electrolyte disorders. This advanced test specifically targets mutations in the SLC12A2 gene, which encodes the sodium-potassium-chloride cotransporter NKCC2, a critical protein responsible for salt reabsorption in the kidney’s thick ascending limb of Henle.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test meticulously analyzes the entire coding region of the SLC12A2 gene to identify:
- Pathogenic mutations causing Bartter syndrome type 1
- Missense, nonsense, frameshift, and splice-site variants
- Copy number variations and large deletions
- Novel genetic alterations affecting protein function
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of Bartter syndrome or related electrolyte disorders:
- Infants and children with failure to thrive and growth retardation
- Patients with polyuria (excessive urination) and polydipsia (excessive thirst)
- Individuals experiencing salt cravings and electrolyte imbalances
- Those with hypokalemic metabolic alkalosis
- Patients with muscle weakness, cramps, or tetany
- Individuals with a family history of kidney disorders or electrolyte abnormalities
- Unexplained cases of nephrocalcinosis or kidney stones
Key Benefits of SLC12A2 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Bartter syndrome type 1 with high accuracy
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Genetic Counseling: Provides essential information for family planning and risk assessment
- Early Intervention: Facilitates timely management to prevent complications
- Comprehensive Analysis: NGS technology ensures thorough examination of the entire gene
- Multi-Specialty Relevance: Results impact management across hepatology, nephrology, and endocrinology
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the SLC12A2 gene, confirming Bartter syndrome type 1 diagnosis
- Negative Result: Suggests absence of detectable mutations in the SLC12A2 gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical implications requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results include detailed clinical correlations and recommendations for follow-up care with appropriate specialists.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | SLC12A2 Gene Bartter Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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) Technology |
| Specialties Involved | General Physician, Genetics, Hepatology, Nephrology, Endocrinology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Complete clinical history documentation
- Genetic counseling session prior to testing
- Development of detailed family pedigree chart
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more cities. Our network of certified collection centers ensures accessible testing for patients nationwide.
Take Control of Your Health Today
Don’t let unexplained symptoms or family history concerns go unaddressed. Our SLC12A2 Gene Bartter Syndrome NGS Genetic DNA Test provides the clarity needed for proper diagnosis and management of complex kidney and electrolyte disorders. With our discounted price of only $500 USD, advanced genetic testing is more accessible than ever.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive answers and personalized care.
Our team of genetic specialists and healthcare professionals is ready to guide you through the testing process, answer your questions, and provide the comprehensive support you need for your genetic health journey.
