SLC22A12 Gene Hypouricemia Renal Type 1 NGS Genetic DNA Test
Comprehensive Genetic Testing for Hereditary Renal Hypouricemia
The SLC22A12 Gene Hypouricemia Renal Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the SLC22A12 gene, which encodes the URAT1 transporter protein crucial for renal uric acid reabsorption. This specialized genetic test provides definitive diagnosis for patients with hereditary renal hypouricemia type 1, a rare metabolic disorder characterized by impaired uric acid handling in the kidneys.
What This Advanced Genetic Test Measures
Our comprehensive NGS-based analysis specifically targets the SLC22A12 gene to detect pathogenic variants that disrupt normal uric acid transport mechanisms. The test identifies:
- Point mutations affecting URAT1 transporter function
- Frameshift mutations leading to truncated protein production
- Missense mutations altering uric acid binding affinity
- Deletion/insertion variants affecting gene expression
- Compound heterozygous mutations in familial cases
Who Should Consider This Genetic Test
This specialized genetic analysis is recommended for individuals presenting with:
- Unexplained persistent hypouricemia (serum uric acid <2 mg/dL)
- Recurrent uric acid kidney stones despite low serum levels
- Exercise-induced acute kidney injury episodes
- Family history of renal hypouricemia or related metabolic disorders
- Unexplained renal tubular dysfunction
- Children with developmental delays and metabolic abnormalities
- Patients with suspected inherited renal transport defects
Significant Benefits of Genetic Testing
Undergoing the SLC22A12 genetic test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms hereditary renal hypouricemia type 1 with molecular precision
- Personalized Management: Enables targeted treatment strategies based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and inheritance risk assessment
- Preventive Care: Helps implement preventive measures for kidney stone formation
- Differential Diagnosis: Distinguishes between different types of renal hypouricemia
- Research Contribution: Advances understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Identifies pathogenic mutation(s) in SLC22A12 gene confirming diagnosis
- Negative Result: No mutations detected, suggesting alternative causes for hypouricemia
- Variant of Uncertain Significance: Requires additional family studies for clarification
- Carrier Status: Identifies individuals with single mutation who may pass condition to offspring
All results are accompanied by genetic counseling to ensure proper understanding and clinical management guidance.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| SLC22A12 Gene Hypouricemia Renal Type 1 NGS Genetic DNA Test | $500 USD | $700 USD |
Nationwide Testing Availability
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, San Jose, and many more cities. Our network of certified genetic testing facilities ensures accessible, high-quality diagnostic services nationwide.
Take Control of Your Genetic Health Today
Don’t let unexplained metabolic symptoms affect your quality of life. Our SLC22A12 Gene Hypouricemia Renal Type 1 NGS Genetic DNA Test provides the answers you need for proper diagnosis and management. With results delivered in just 3-4 weeks and comprehensive genetic counseling included, you’ll gain valuable insights into your metabolic health.
Ready to schedule your test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic profile and optimizing your health management strategy.
