GLIS2 Gene Nephronophthisis Type 7 NGS Genetic DNA Test
Comprehensive Genetic Testing for Kidney Health
The GLIS2 Gene Nephronophthisis Type 7 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for kidney disorders. This advanced test specifically targets mutations in the GLIS2 gene, which plays a critical role in kidney development and function. Nephronophthisis type 7 is a rare autosomal recessive disorder characterized by progressive kidney damage leading to end-stage renal disease, typically manifesting in childhood or adolescence.
What Does This Test Measure?
This sophisticated genetic analysis utilizes Next-Generation Sequencing (NGS) technology to comprehensively examine the GLIS2 gene for pathogenic variants. The test detects:
- Point mutations and single nucleotide variants
- Small insertions and deletions
- Copy number variations affecting the GLIS2 gene
- Pathogenic variants associated with nephronophthisis type 7
Clinical Significance of GLIS2 Gene
The GLIS2 gene encodes a transcription factor essential for normal kidney development and maintenance. Mutations in this gene disrupt renal tubular function, leading to progressive fibrosis and cyst formation in the kidneys. Early detection through genetic testing enables proactive management and potentially delays disease progression.
Who Should Consider This Test?
This genetic test is recommended for individuals presenting with:
- Unexplained chronic kidney disease in childhood or adolescence
- Family history of nephronophthisis or inherited kidney disorders
- Progressive renal impairment without clear cause
- Polyuria and polydipsia (excessive thirst and urination)
- Growth retardation in children with renal involvement
- Anemia and fatigue associated with renal dysfunction
- Electrolyte imbalances and concentrating defects
Early Warning Signs
Patients may experience subtle symptoms initially, including increased nighttime urination, excessive thirst, poor growth patterns, and unexplained fatigue. These early indicators often precede more severe renal complications, making timely genetic testing crucial for intervention.
Benefits of GLIS2 Genetic Testing
- Accurate Diagnosis: Provides definitive genetic confirmation of nephronophthisis type 7
- Early Intervention: Enables proactive management before significant kidney damage occurs
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides targeted therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and anticipate complications
- Research Contribution: Advances understanding of rare kidney disorders
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our team of certified genetic counselors and medical geneticists. Results typically fall into three categories:
Positive Result
A positive result indicates the presence of pathogenic mutations in the GLIS2 gene, confirming the diagnosis of nephronophthisis type 7. This finding enables:
- Implementation of kidney-protective measures
- Regular monitoring of renal function
- Early preparation for potential renal replacement therapy
- Family member screening recommendations
Negative Result
A negative result suggests that no pathogenic GLIS2 mutations were detected. However, this does not completely rule out nephronophthisis, as other genetic forms may be present. Further evaluation may be recommended.
Variant of Uncertain Significance
Some genetic changes may have unknown clinical significance. In such cases, our genetic counseling team will provide guidance on interpretation and potential next steps.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | GLIS2 Gene Nephronophthisis Type 7 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 |
Pre-Test Requirements
Before undergoing testing, patients should provide:
- Complete clinical history relevant to kidney function and symptoms
- Participation in a genetic counseling session
- Development of a detailed pedigree chart documenting family members affected by kidney disorders
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network ensures accessible genetic testing services for patients throughout the country.
Take Control of Your Kidney Health Today
Don’t wait for symptoms to progress. Early genetic testing for GLIS2 mutations can provide life-changing information for managing kidney health. Our team of genetic specialists is ready to guide you through the testing process and help interpret your results.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your GLIS2 Gene Nephronophthisis Type 7 NGS Genetic DNA Test. Take the first step toward understanding your genetic risk and protecting your kidney function for the future.
