SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone Metabolism Disorders
The SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for inherited metabolic bone disorders. This advanced genetic test specifically targets mutations in the SLC34A3 gene, which encodes the sodium-phosphate cotransporter protein crucial for renal phosphate reabsorption. When this gene malfunctions, it leads to impaired phosphate regulation, resulting in the characteristic features of hypophosphatemic rickets with hypercalciuria.
What This Test Measures and Detects
Our comprehensive NGS-based analysis examines the entire coding region of the SLC34A3 gene to identify:
- Point mutations affecting protein function
- Insertions and deletions disrupting gene expression
- Missense and nonsense mutations altering phosphate transport
- Regulatory variants affecting gene expression levels
- Compound heterozygous mutations in autosomal recessive inheritance
The test utilizes state-of-the-art Next-Generation Sequencing technology, providing unparalleled accuracy in detecting even rare genetic variants that conventional methods might miss.
Who Should Consider This Genetic Test
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Persistent bone pain and muscle weakness
- Skeletal deformities including bowed legs or knock knees
- Growth retardation and short stature in children
- Dental abnormalities and enamel defects
- Recurrent bone fractures with minimal trauma
- Family history of rickets or bone disorders
- Unexplained hypophosphatemia with hypercalciuria
- Resistance to conventional vitamin D therapy
Genetic Counseling and Family Planning
Our comprehensive pre-test genetic counseling session helps create detailed family pedigree charts, identifying patterns of inheritance and assessing recurrence risks for future generations.
Significant Benefits of Genetic Testing
Precision Diagnosis and Targeted Treatment
- Accurate Diagnosis: Eliminates diagnostic uncertainty and prevents misdiagnosis
- Personalized Treatment: Enables targeted phosphate and vitamin D supplementation
- Family Risk Assessment: Identifies carriers and assesses inheritance patterns
- Early Intervention: Facilitates timely treatment to prevent skeletal complications
- Reproductive Planning: Provides crucial information for family planning decisions
- Long-term Monitoring: Establishes baseline for ongoing disease management
Understanding Your Test Results
Interpretation and Clinical Implications
Our comprehensive genetic report provides detailed analysis of your SLC34A3 gene status:
- Positive Result: Identifies specific pathogenic mutations confirming diagnosis
- Negative Result: No disease-causing variants detected in SLC34A3 gene
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with single mutation copies
All results are accompanied by detailed clinical interpretation and management recommendations from our board-certified genetic specialists.
Test Details and Pricing
| Test Parameter | Details |
|---|---|
| Test Name | SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 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 |
| Specialty | General Physician, Genetics |
| Disease Category | Metabolic Disorders |
Nationwide Accessibility and Convenience
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 collection centers ensures easy access to genetic testing services wherever you are located.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your bone health or family genetic risks hold you back. Our SLC34A3 genetic test provides the clarity you need for informed medical decisions and personalized treatment approaches. With our limited-time discount pricing, now is the perfect opportunity to invest in your long-term health.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
Take the first step toward understanding your genetic predisposition to hypophosphatemic rickets with hypercalciuria. Early diagnosis through comprehensive genetic testing can significantly improve treatment outcomes and quality of life.
