XDH Gene Xanthinuria Type 1 NGS Genetic DNA Test
Comprehensive Genetic Screening for Hereditary Xanthinuria
The XDH Gene Xanthinuria Type 1 NGS Genetic DNA Test represents a breakthrough in metabolic disorder diagnostics, offering precise detection of genetic mutations associated with hereditary xanthinuria type 1. This advanced genetic screening utilizes cutting-edge Next-Generation Sequencing technology to analyze the XDH gene, which encodes xanthine dehydrogenase—a critical enzyme in purine metabolism. Early identification of this rare metabolic condition enables proactive management and prevents serious complications associated with abnormal purine breakdown.
What This Test Measures and Detects
This comprehensive genetic analysis specifically targets mutations in the XDH gene located on chromosome 2p23.1. The test identifies:
- Pathogenic variants affecting xanthine oxidase function
- Single nucleotide polymorphisms (SNPs) impacting enzyme activity
- Deletions, insertions, and missense mutations in the XDH gene
- Genetic markers associated with impaired uric acid production
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Screening
This test is particularly recommended for individuals experiencing:
- Recurrent kidney stones or urinary calculi
- Unexplained joint pain and stiffness
- Family history of xanthinuria or metabolic disorders
- Muscle cramps and exercise intolerance
- Abnormal uric acid levels in blood tests
- Children with developmental delays and metabolic symptoms
- Individuals with failed previous stone analysis
Significant Benefits of Genetic Testing
Undergoing the XDH Gene Xanthinuria Type 1 test provides numerous advantages:
- Accurate diagnosis of hereditary metabolic conditions
- Personalized treatment and dietary recommendations
- Early intervention to prevent kidney damage
- Family planning guidance and genetic counseling
- Reduced healthcare costs through targeted management
- Improved quality of life through symptom management
- Comprehensive understanding of inheritance risks
Understanding Your Test Results
Your genetic test results will be thoroughly explained by our certified genetic counselors. Positive results indicate the presence of XDH gene mutations associated with xanthinuria type 1, requiring specific dietary modifications and medical monitoring. Negative results suggest normal XDH gene function but may warrant further investigation if clinical symptoms persist. Variants of uncertain significance may require additional family studies for clarification. Our team provides comprehensive guidance on result interpretation and next steps for optimal health management.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
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, reliable service nationwide.
Take Control of Your Metabolic Health Today
Don’t let unexplained symptoms compromise your quality of life. Our comprehensive XDH Gene Xanthinuria Type 1 NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. Schedule your genetic screening today and take the first step toward personalized metabolic health management.
Call or WhatsApp us now at +1(267) 388-9828 to book your test or schedule a genetic counseling session. Our expert team is ready to guide you through the testing process and help you understand your genetic health profile.
