SLC34A1 Gene Nephrolithiasis/Osteoporosis Hypophosphatemic Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Kidney and Bone Disorders
The SLC34A1 Gene Nephrolithiasis/Osteoporosis Hypophosphatemic Type 1 NGS Genetic DNA Test represents a breakthrough in precision medicine for individuals affected by hereditary kidney stone disease and bone mineralization disorders. This advanced diagnostic tool utilizes next-generation sequencing technology to identify mutations in the SLC34A1 gene, which plays a critical role in phosphate homeostasis and renal function.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets the SLC34A1 gene, which encodes the sodium-phosphate cotransporter protein NaPi-IIa. This protein is essential for phosphate reabsorption in the renal proximal tubules. The test detects:
- Pathogenic variants in the SLC34A1 gene associated with hypophosphatemic rickets
- Mutations causing impaired phosphate transport mechanisms
- Genetic markers for hereditary hypercalciuria and nephrolithiasis
- Variants linked to osteoporosis and bone density abnormalities
- Inheritance patterns for family risk assessment
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals experiencing:
- Recurrent kidney stones or nephrolithiasis without clear cause
- Unexplained bone pain or frequent fractures
- Diagnosis of osteoporosis at a young age
- Family history of kidney stones or bone disorders
- Abnormal phosphate levels in blood tests
- Children with growth retardation or rickets-like symptoms
- Patients with hypercalciuria and hypophosphatemia
Clinical Benefits of Genetic Testing
Undergoing the SLC34A1 genetic test provides numerous advantages for patients and healthcare providers:
- Precise Diagnosis: Confirms genetic basis of symptoms for accurate diagnosis
- Personalized Treatment: Enables targeted therapy based on genetic findings
- Family Planning: Provides information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management to prevent complications
- Comprehensive Care: Integrates findings into multidisciplinary treatment approach
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your results:
- Positive Result: Indicates presence of pathogenic SLC34A1 mutation, confirming diagnosis
- Negative Result: Suggests alternative causes for symptoms should be investigated
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Identifies individuals who may pass the condition to offspring
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SLC34A1 Gene Nephrolithiasis/Osteoporosis Hypophosphatemic Type 1 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 |
Nationwide Testing Availability
We have diagnostic centers conveniently located across major metropolitan areas throughout the United States, including New York City, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art facilities ensure accurate testing and comprehensive genetic counseling services.
Take Control of Your Health Today
Don’t let unexplained kidney stones or bone disorders compromise your quality of life. Our advanced genetic testing provides the answers you need for proper diagnosis and targeted treatment. Contact our genetic specialists today to schedule your test and begin your journey toward better health management.
Call or WhatsApp our genetic counseling team at +1(267) 388-9828 to book your SLC34A1 genetic test and receive personalized guidance for your specific health concerns.
