KCNJ1 Gene Bartter Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Kidney Disorders
The KCNJ1 Gene Bartter Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney conditions. This advanced test specifically targets mutations in the KCNJ1 gene, which encodes the renal outer medullary potassium channel (ROMK) essential for proper kidney function. When this gene malfunctions, it leads to Bartter syndrome type 2, a rare autosomal recessive disorder characterized by impaired salt reabsorption in the kidneys.
What This Test Measures and Detects
Our sophisticated Next-Generation Sequencing (NGS) technology comprehensively analyzes the entire KCNJ1 gene to identify:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Frameshift mutations disrupting protein structure
- Missense and nonsense mutations altering channel function
- Regulatory region variants affecting gene expression
The test provides precise identification of genetic abnormalities that cause dysfunction in the thick ascending limb of Henle’s loop, where the ROMK channel plays a critical role in potassium recycling and sodium chloride reabsorption.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Persistent polyuria (excessive urination) and polydipsia (excessive thirst)
- Recurrent dehydration episodes despite adequate fluid intake
- Electrolyte imbalances including hypokalemia and metabolic alkalosis
- Failure to thrive or growth retardation in infants and children
- Muscle weakness, cramps, or tetany related to electrolyte disturbances
- Family history of Bartter syndrome or similar kidney disorders
- Unexplained nephrocalcinosis or kidney stone formation
- Prenatal diagnosis when family history suggests inherited kidney disease
Clinical Benefits of Genetic Testing
Undergoing the KCNJ1 Gene Bartter Syndrome Type 2 NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out Bartter syndrome type 2 with molecular precision
- Personalized Treatment: Enables targeted therapeutic approaches based on specific genetic mutations
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt management to prevent complications and improve outcomes
- Differential Diagnosis: Helps distinguish between different types of Bartter syndrome and similar conditions
- Prognostic Information: Offers insights into disease progression and potential complications
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic mutations in the KCNJ1 gene, confirming Bartter syndrome type 2 diagnosis
- Negative Result: No disease-causing mutations detected, though clinical correlation remains essential
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical evaluation
- Carrier Status: Detects individuals carrying one copy of mutated gene without disease symptoms
All results include detailed clinical implications and recommendations for follow-up care with your healthcare provider.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Accessibility
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our extensive network ensures accessible genetic testing services for families nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney conditions affect your quality of life. Our KCNJ1 Gene Bartter Syndrome Type 2 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our discounted pricing and comprehensive genetic analysis, you can access cutting-edge diagnostic technology at an affordable cost.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward definitive diagnosis and personalized treatment planning.
Our experienced genetic counselors are available to discuss your testing options, answer questions about the procedure, and help you understand how genetic testing can benefit your specific situation. We’re committed to providing compassionate, professional care throughout your genetic testing journey.
