SLC34A1 Gene Fanconi Renotubular Syndrome Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Inherited Kidney Disorders
The SLC34A1 Gene Fanconi Renotubular Syndrome Type 2 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for hereditary kidney conditions. This advanced genetic analysis specifically targets mutations in the SLC34A1 gene, which encodes the sodium-phosphate cotransporter protein crucial for proper phosphate reabsorption in renal tubules. When this gene malfunctions, it leads to Fanconi renotubular syndrome type 2, a rare inherited disorder characterized by impaired kidney function and systemic metabolic disturbances.
What This Test Detects and Measures
Our comprehensive NGS-based genetic test provides detailed analysis of:
- Complete sequencing of the SLC34A1 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of pathogenic variants affecting sodium-phosphate cotransporter function
- Assessment of genetic markers associated with renal phosphate wasting
- Analysis of variants linked to hypophosphatemic rickets and osteomalacia
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained renal phosphate wasting and hypophosphatemia
- Family history of Fanconi renotubular syndrome or similar kidney disorders
- Recurrent kidney stones or nephrocalcinosis
- Bone mineralization defects including rickets or osteomalacia
- Growth retardation in children with renal abnormalities
- Metabolic acidosis of renal origin
- Polyuria and polydipsia without diabetes diagnosis
- Unexplained aminoaciduria or glycosuria
Clinical Benefits of Genetic Testing
Undergoing the SLC34A1 genetic test provides numerous advantages:
- Accurate Diagnosis: Confirms or rules out Fanconi renotubular syndrome type 2 with high precision
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for reproductive decisions and genetic counseling
- Early Intervention: Facilitates proactive management to prevent complications
- Comprehensive Care: Guides multidisciplinary approach involving nephrologists, endocrinologists, and genetic specialists
Understanding Your Test Results
Our comprehensive genetic report includes:
- Positive Result: Indicates presence of pathogenic SLC34A1 mutation, confirming diagnosis of Fanconi renotubular syndrome type 2
- Negative Result: Suggests absence of detectable mutations in the SLC34A1 gene
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of mutated gene without showing symptoms
All results are accompanied by detailed interpretation from our certified genetic counselors and clinical recommendations for next steps.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | SLC34A1 Gene Fanconi Renotubular Syndrome 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 |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create detailed family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and their clinical significance
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, Austin, Jacksonville, Fort Worth, Columbus, San Francisco, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about inherited kidney conditions affect your quality of life. Our SLC34A1 genetic test provides definitive answers and empowers you with knowledge for better health management. Early genetic diagnosis can significantly improve treatment outcomes and prevent serious complications associated with Fanconi renotubular syndrome.
Ready to schedule your genetic test? Contact our genetic specialists today at +1(267) 388-9828 or book your appointment online. Take the first step toward understanding your genetic health and receiving personalized care for optimal kidney function and overall wellness.