CLCNKA Gene Bartter Syndrome Type 4b NGS Genetic DNA Test
Comprehensive Genetic Analysis for Inherited Kidney Disorders
The CLCNKA Gene Bartter Syndrome Type 4b NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the CLCNKA gene, which are responsible for Bartter syndrome type 4b. This rare autosomal recessive disorder affects the kidneys’ ability to properly regulate salt and electrolyte balance, leading to significant health complications if left undiagnosed. Our advanced Next-Generation Sequencing technology provides comprehensive genetic analysis with exceptional accuracy and reliability.
What Does This Test Measure and Detect?
This specialized genetic test specifically targets the CLCNKA gene, which encodes the chloride channel protein ClC-Ka. Mutations in this gene disrupt the normal function of the thick ascending limb of the loop of Henle in the kidneys, impairing salt reabsorption and causing the characteristic features of Bartter syndrome type 4b. The test identifies:
- Point mutations, deletions, and insertions in the CLCNKA gene
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
- Carrier status for family members
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms suggestive of Bartter syndrome or those with a family history of the condition. Key indications include:
- Infants and children with failure to thrive and growth retardation
- Patients experiencing polyuria (excessive urination) and polydipsia (excessive thirst)
- Individuals with recurrent dehydration episodes
- Those showing electrolyte imbalances, particularly hypokalemia and metabolic alkalosis
- Patients with nephrocalcinosis or kidney stones
- Family members of individuals diagnosed with Bartter syndrome
- Couples with a family history planning pregnancy
Clinical Benefits of Genetic Testing
Early and accurate genetic diagnosis through the CLCNKA Gene Bartter Syndrome Type 4b NGS Genetic DNA Test provides numerous clinical advantages:
- Precise Diagnosis: Confirms the specific genetic cause of symptoms, enabling targeted treatment approaches
- Family Planning: Identifies carrier status and recurrence risks for future pregnancies
- Personalized Treatment: Guides appropriate electrolyte replacement and medication strategies
- Prognostic Information: Helps predict disease progression and potential complications
- Prevention of Complications: Early intervention can prevent growth retardation and renal damage
- Genetic Counseling: Provides essential information for informed medical decisions
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results with clinical context:
- Positive Result: Indicates the presence of pathogenic mutations in the CLCNKA gene, confirming Bartter syndrome type 4b diagnosis
- Negative Result: Suggests no detectable mutations in the CLCNKA gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Detects individuals with one mutated copy of the gene who may pass the condition to offspring
All results are accompanied by detailed explanations and recommendations for follow-up care with your healthcare provider.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | CLCNKA Gene Bartter Syndrome Type 4b 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) Technology |
Pre-Test Requirements
Before undergoing testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Discussion of potential outcomes and their significance
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, and San Jose. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney conditions affect your quality of life. The CLCNKA Gene Bartter Syndrome Type 4b NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized treatment strategies. Our team of genetic specialists is ready to guide you through every step of the process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Early diagnosis can make a significant difference in managing Bartter syndrome and preventing long-term complications.
