SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test
Comprehensive Genetic Testing for Bone and Mineral Metabolism Disorders
The SLC34A3 Gene Hypophosphatemic Rickets with Hypercalciuria NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited bone disorders. This advanced genetic analysis specifically targets mutations in the SLC34A3 gene, which encodes the sodium-phosphate cotransporter protein crucial for maintaining proper phosphate balance in the body. When this gene malfunctions, it leads to a complex condition characterized by impaired bone mineralization (rickets) combined with excessive calcium excretion in urine (hypercalciuria).
What This Test Measures and Detects
Our sophisticated NGS-based testing platform comprehensively analyzes the entire SLC34A3 gene to identify:
- Point mutations affecting protein function
- Insertion and deletion variants disrupting gene structure
- Splice site mutations altering RNA processing
- Regulatory region variants affecting gene expression
- Compound heterozygous mutations in autosomal recessive inheritance
The test utilizes state-of-the-art Next Generation Sequencing technology, providing unparalleled accuracy in detecting even the most subtle genetic variations that conventional methods might miss.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained bone pain and muscle weakness
- Delayed growth and short stature in children
- Bone deformities including bowed legs or knock knees
- Dental abnormalities and enamel defects
- Recurrent kidney stones or nephrocalcinosis
- Family history of similar bone or kidney disorders
- Abnormal blood tests showing low phosphate levels
- Elevated urinary calcium excretion without apparent cause
Clinical Benefits of Early Genetic Diagnosis
Obtaining a precise genetic diagnosis through this test provides numerous clinical advantages:
- Personalized Treatment Planning: Enables targeted phosphate and vitamin D supplementation regimens
- Family Risk Assessment: Identifies at-risk relatives for proactive monitoring
- Prevention of Complications: Early intervention prevents progressive bone deformities and kidney damage
- Reproductive Counseling: Provides accurate recurrence risk information for family planning
- Differential Diagnosis: Distinguishes from other forms of rickets and bone disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Confirms diagnosis of hereditary hypophosphatemic rickets with hypercalciuria, guiding specific treatment approaches
- Negative Result: Suggests alternative diagnoses, directing further medical evaluation
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important for reproductive planning in autosomal recessive conditions
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors.
Test Pricing and Availability
| Test Component | Price (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 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 collection centers ensures easy access to this specialized genetic testing.
Take Control of Your Genetic Health Today
Don’t let uncertainty about bone and mineral metabolism disorders affect your quality of life. Early genetic diagnosis through our SLC34A3 gene testing can provide clarity and direction for effective management. Our team of genetic specialists is ready to guide you through the testing process and help you understand your results.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Take the first step toward precise diagnosis and personalized care.
