GRHPR Gene Hyperoxaluria Type 2 NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The GRHPR Gene Hyperoxaluria Type 2 NGS Genetic DNA Test represents a breakthrough in precision medicine for individuals at risk of inherited metabolic disorders. This advanced diagnostic tool specifically targets mutations in the GRHPR (glyoxylate reductase/hydroxypyruvate reductase) gene, which plays a critical role in the body’s glyoxylate metabolism pathway. When this gene malfunctions, it leads to primary hyperoxaluria type 2, a rare autosomal recessive condition characterized by excessive oxalate production and subsequent kidney damage.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the entire GRHPR gene to identify:
- Pathogenic variants and mutations in the GRHPR gene
- Single nucleotide polymorphisms (SNPs) associated with hyperoxaluria type 2
- Deletions, insertions, and copy number variations
- Compound heterozygous and homozygous mutations
- Novel genetic variants with potential clinical significance
Who Should Consider This Genetic Test
This comprehensive genetic screening is recommended for individuals experiencing:
- Recurrent kidney stones, especially in childhood or adolescence
- Family history of primary hyperoxaluria or unexplained renal failure
- Unexplained nephrocalcinosis or progressive kidney disease
- Systemic oxalosis affecting multiple organs
- Children with failure to thrive and renal complications
- Individuals with consanguineous parents or affected siblings
Key Benefits of GRHPR Genetic Testing
- Early Intervention: Enables proactive management before irreversible kidney damage occurs
- Personalized Treatment: Guides specific therapeutic approaches based on genetic profile
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Accurate Diagnosis: Differentiates between hyperoxaluria types for targeted therapy
- Preventive Care: Helps implement dietary modifications and lifestyle changes
- Comprehensive Analysis: NGS technology ensures high sensitivity and specificity
Understanding Your Test Results
Your genetic test report will provide detailed information about your GRHPR gene status:
- Positive Result: Indicates presence of pathogenic mutations confirming hyperoxaluria type 2 diagnosis
- Negative Result: Suggests absence of known disease-causing variants in the GRHPR gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Reveals if you carry one copy of a mutated gene without showing symptoms
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | GRHPR Gene Hyperoxaluria Type 2 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 Accessibility
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, and San Jose. Our network of certified genetic counselors and healthcare professionals ensures you receive comprehensive support throughout the testing process.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic risk for metabolic disorders compromise your health and quality of life. Our GRHPR Gene Hyperoxaluria Type 2 NGS Genetic DNA Test provides the clarity and confidence you need to make informed healthcare decisions. With our discounted price of $500 and comprehensive genetic analysis, you’re investing in your long-term health and peace of mind.
Ready to schedule your genetic screening? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions, discuss insurance coverage options, and guide you through the testing process with compassion and expertise.
