GALNT3 Gene Tumoral Calcinosis Hyperphosphatemic Familial Type 1 NGS Genetic DNA Test
Understanding GALNT3 Gene-Related Tumoral Calcinosis
GALNT3 Gene Tumoral Calcinosis Hyperphosphatemic Familial Type 1 represents a rare inherited metabolic disorder characterized by abnormal calcium phosphate deposits in soft tissues and persistent elevation of blood phosphate levels. This condition results from mutations in the GALNT3 gene, which plays a crucial role in phosphate metabolism regulation. The GALNT3 enzyme is essential for proper glycosylation of fibroblast growth factor 23 (FGF23), a hormone that regulates phosphate excretion through the kidneys.
What This Advanced Genetic Test Detects
Our comprehensive NGS-based genetic test specifically analyzes the GALNT3 gene to identify pathogenic variants responsible for familial tumoral calcinosis type 1. The test examines:
- Complete coding regions of the GALNT3 gene
- Exon-intron boundaries for splice site mutations
- Regulatory regions affecting gene expression
- Both known and novel genetic variants
- Homozygous and compound heterozygous mutations
Who Should Consider This Genetic Test
This specialized genetic evaluation is recommended for individuals presenting with:
- Unexplained subcutaneous calcium deposits or calcific masses
- Persistent hyperphosphatemia without renal impairment
- Family history of tumoral calcinosis or similar calcium disorders
- Recurrent joint pain and limited mobility due to calcifications
- Early-onset calcium phosphate crystal formation in soft tissues
- Children or young adults with progressive calcific lesions
- Individuals with elevated serum phosphate levels and normal renal function
Significant Benefits of Genetic Testing
Undergoing GALNT3 genetic testing provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms the specific genetic cause of symptoms
- Personalized Treatment: Guides targeted therapeutic approaches
- Family Planning: Enables informed reproductive decisions
- Early Intervention: Facilitates proactive management strategies
- Genetic Counseling: Provides comprehensive family risk assessment
- Disease Monitoring: Establishes baseline for treatment response
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your GALNT3 test results:
- Positive Result: Identifies pathogenic mutation(s) confirming diagnosis
- Negative Result: No disease-causing variants detected in GALNT3 gene
- Variant of Uncertain Significance: Genetic change with unclear clinical impact
- Carrier Status: Identifies individuals with single mutation copy
All results include comprehensive genetic counseling to ensure proper understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Accessibility
We maintain comprehensive testing facilities across major metropolitan areas throughout the United States, including New York, Los Angeles, Chicago, Houston, Phoenix, and Philadelphia. Our network ensures convenient access to advanced genetic testing services regardless of your location.
Schedule Your Genetic Evaluation Today
Take the first step toward accurate diagnosis and personalized management of tumoral calcinosis. Our genetic counseling team is available to discuss your testing options and provide comprehensive pre-test guidance. Contact us today to schedule your appointment and begin your journey toward definitive answers.
Call or WhatsApp: +1(267) 388-9828 to book your GALNT3 genetic test consultation.
Test Specifications
- 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: Metabolic Genetics
- Department: Genetics
Our commitment to excellence in genetic diagnostics ensures you receive the most accurate and comprehensive testing available for GALNT3-related tumoral calcinosis.
