CLCN5 Gene Dent Disease NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disorders
The CLCN5 Gene Dent Disease NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for inherited kidney conditions. This sophisticated test specifically targets mutations in the CLCN5 gene, which encodes the chloride/proton exchanger CIC-5 protein crucial for proper kidney tubular function. Dent disease is a rare X-linked recessive renal tubular disorder characterized by progressive kidney damage, and early genetic identification through this test can significantly impact clinical management and treatment outcomes.
What Does This Test Measure and Detect?
This advanced genetic test utilizes next-generation sequencing (NGS) technology to comprehensively analyze the CLCN5 gene for pathogenic variants. The test specifically detects:
- Point mutations, insertions, and deletions in the CLCN5 gene
- Missense, nonsense, and frameshift mutations affecting chloride channel function
- Genetic variations responsible for impaired endosomal acidification in renal proximal tubules
- X-linked inheritance patterns characteristic of Dent disease
- Specific mutations leading to low molecular weight proteinuria and hypercalciuria
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following symptoms or family history:
- Persistent low molecular weight proteinuria (LMWP) without apparent cause
- Hypercalciuria and recurrent kidney stone formation
- Progressive renal insufficiency in childhood or early adulthood
- Family history of X-linked kidney disorders or Dent disease
- Unexplained nephrocalcinosis or renal Fanconi syndrome features
- Male patients with proteinuria and progressive kidney dysfunction
- Individuals with suspected inherited tubular disorders
Significant Benefits of Genetic Testing
Undergoing the CLCN5 Gene Dent Disease NGS Genetic DNA Test offers numerous clinical advantages:
- Accurate Diagnosis: Provides definitive genetic confirmation of Dent disease, eliminating diagnostic uncertainty
- Early Intervention: Enables timely implementation of preventive measures to preserve kidney function
- Family Planning Guidance: Offers crucial information for genetic counseling and family planning decisions
- Personalized Treatment: Facilitates development of targeted management strategies based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Carrier Detection: Identifies female carriers who may pass the condition to male offspring
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert genetic counselors and nephrologists:
- Positive Result: Indicates the presence of a pathogenic CLCN5 mutation, confirming Dent disease 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: For female patients, identifies carrier status with implications for offspring
All positive results include comprehensive genetic counseling to discuss implications, management strategies, and family testing recommendations.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient 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. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Kidney Health Today
Don’t let uncertainty about inherited kidney conditions affect your quality of life. The CLCN5 Gene Dent Disease NGS Genetic DNA Test provides the clarity needed for informed medical decisions and personalized care planning. Our team of genetic specialists, nephrologists, and counselors 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 counseling session and book your test. Early diagnosis can make a significant difference in managing kidney health and preserving renal function for years to come.
Note: Turnaround time for results is 3-4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on FTA card. Pre-test requirements include clinical history documentation and a genetic counseling session to create a detailed family pedigree chart.
