CLCN5 Gene Nephrolithiasis Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Kidney Stone Disorders
The CLCN5 Gene Nephrolithiasis Type 1 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited kidney disorders. This sophisticated genetic analysis utilizes next-generation sequencing technology to detect mutations in the CLCN5 gene, which plays a critical role in chloride transport within kidney tubules. When this gene malfunctions, it leads to Dent’s disease type 1, characterized by recurrent kidney stones, progressive renal failure, and various metabolic abnormalities.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based test specifically targets the CLCN5 gene located on the X chromosome, analyzing its complete coding regions and splice sites for pathogenic variants. The test detects:
- Missense, nonsense, and frameshift mutations in the CLCN5 gene
- Small insertions and deletions affecting gene function
- Splice site variants that disrupt normal protein production
- Copy number variations and larger genomic rearrangements
The CLCN5 gene encodes the CLC-5 chloride channel protein, essential for proper acidification of endosomes in renal proximal tubule cells. Mutations in this gene impair the reabsorption of low-molecular-weight proteins, calcium, and other solutes, leading to the characteristic features of Dent’s disease.
Who Should Consider CLCN5 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Recurrent kidney stones beginning in childhood or early adulthood
- Family history of nephrolithiasis or renal failure
- Low-molecular-weight proteinuria without other explanations
- Hypercalciuria and nephrocalcinosis
- Progressive renal impairment of unknown etiology
- Male patients with X-linked inheritance pattern of kidney disease
- Unexplained rickets or bone abnormalities in childhood
Significant Benefits of Early Genetic Detection
Undergoing CLCN5 genetic testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms Dent’s disease type 1, distinguishing it from other forms of hereditary nephrolithiasis
- Family Planning Guidance: Enables informed reproductive decisions and genetic counseling
- Personalized Treatment: Guides targeted therapeutic interventions to prevent stone formation
- Proactive Monitoring: Facilitates early intervention for renal function preservation
- Risk Assessment: Identifies at-risk family members for preventive measures
- Psychological Relief: Provides clarity and reduces diagnostic uncertainty
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates a pathogenic mutation in the CLCN5 gene, confirming Dent’s disease type 1 diagnosis
- Negative Result: Suggests absence of detectable CLCN5 mutations, though other genetic causes should be considered
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for female relatives in X-linked inheritance patterns
All positive results include genetic counseling to discuss implications, management strategies, and family testing recommendations. Our team provides ongoing support for result interpretation and clinical management guidance.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| CLCN5 Gene Nephrolithiasis Type 1 NGS Genetic DNA Test | $700 |
| Discount Price | $500 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in 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 collection location.
Take Control of Your Kidney Health Today
Don’t let hereditary kidney stone disorders compromise your quality of life. Early genetic detection through our CLCN5 NGS test can provide the answers you need for effective management and prevention strategies. Our experienced genetic counselors and nephrology specialists are ready to support you through every step of the testing process.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Take the first step toward understanding your genetic risk and preserving your renal health for years to come.
