UMOD Gene Hyperuricemic Nephropathy Familial Juvenile Type 1 NGS Genetic DNA Test
Understanding UMOD Gene Hyperuricemic Nephropathy
UMOD Gene Hyperuricemic Nephropathy, also known as Familial Juvenile Hyperuricemic Nephropathy Type 1, is a rare inherited kidney disorder characterized by progressive renal failure, hyperuricemia (elevated uric acid levels), and gout. This autosomal dominant condition results from mutations in the UMOD gene, which encodes uromodulin – the most abundant protein in normal urine. Uromodulin plays crucial roles in kidney function, including protecting against urinary tract infections and regulating salt transport in the thick ascending limb of the loop of Henle.
What This Advanced Genetic Test Detects
Our comprehensive NGS Genetic DNA Test specifically identifies mutations in the UMOD gene that cause Familial Juvenile Hyperuricemic Nephropathy Type 1. The test analyzes:
- Point mutations and small insertions/deletions in the UMOD gene
- Genetic variations affecting uromodulin protein structure and function
- Inheritance patterns through family genetic analysis
- Risk assessment for developing kidney complications
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals experiencing:
- Early-onset gout before age 30
- Unexplained progressive kidney failure
- Family history of kidney disease or gout
- Hyperuricemia without obvious cause
- Reduced kidney function in young adults
- Recurrent urinary tract infections
- Hypertension with kidney involvement
Comprehensive Benefits of Genetic Testing
Early Intervention and Personalized Care
Genetic testing for UMOD mutations provides numerous advantages:
- Early Diagnosis: Identify at-risk individuals before significant kidney damage occurs
- Family Planning: Make informed reproductive decisions with genetic counseling
- Personalized Treatment: Tailor medications and lifestyle interventions based on genetic profile
- Proactive Monitoring: Implement regular kidney function assessments for early intervention
- Prevention Strategies: Develop targeted approaches to prevent gout and kidney complications
- Peace of Mind: Reduce uncertainty through definitive genetic diagnosis
Understanding Your Test Results
Interpreting Genetic Findings
Your test results will fall into one of these categories:
- Positive Result: A pathogenic mutation in the UMOD gene is identified, confirming the diagnosis of Familial Juvenile Hyperuricemic Nephropathy Type 1. This requires immediate consultation with a nephrologist and genetic counselor.
- Negative Result: No known disease-causing mutations are detected in the UMOD gene. However, this doesn’t completely rule out other genetic or non-genetic causes of similar symptoms.
- Variant of Uncertain Significance: A genetic change is found, but its clinical significance is unknown. Regular follow-up and family studies may be recommended.
Test Information and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | UMOD Gene Hyperuricemic Nephropathy Familial Juvenile Type 1 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 |
Nationwide Testing Availability
We have comprehensive testing facilities across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more locations. Our network ensures convenient access to advanced genetic testing regardless of your location.
Take Control of Your Kidney Health Today
Don’t wait for symptoms to progress. Early genetic testing for UMOD mutations can provide life-changing insights into your kidney health and enable proactive management strategies. Our team of genetic counselors and nephrology specialists are 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 test consultation and take the first step toward understanding your genetic kidney health.
Our experienced genetic counselors will provide comprehensive pre-test guidance, including clinical history assessment and family pedigree analysis to ensure you receive the most accurate and meaningful genetic testing experience.
