TNFSF11 Gene Osteopetrosis Autosomal Recessive Type 2 NGS Genetic DNA Test
Comprehensive Genetic Testing for Bone Density Disorders
The TNFSF11 Gene Osteopetrosis Autosomal Recessive Type 2 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare bone disorders. This advanced test specifically targets mutations in the TNFSF11 gene, which plays a crucial role in bone remodeling and density regulation. Osteopetrosis, commonly known as “marble bone disease,” is a rare genetic condition characterized by increased bone density and skeletal abnormalities that can lead to serious health complications if left undiagnosed.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology examines the TNFSF11 gene for specific mutations associated with autosomal recessive osteopetrosis type 2. This comprehensive analysis identifies:
- Pathogenic variants in the TNFSF11 gene
- Single nucleotide polymorphisms (SNPs) affecting bone metabolism
- Deletion and insertion mutations impacting RANKL protein function
- Genetic markers associated with impaired osteoclast differentiation
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals experiencing:
- Family history of osteopetrosis or bone density disorders
- Recurrent fractures with minimal trauma
- Abnormal bone density detected on imaging studies
- Delayed tooth eruption or dental abnormalities
- Vision or hearing problems related to cranial nerve compression
- Anemia or other hematological abnormalities
- Children with failure to thrive and developmental delays
Significant Benefits of Genetic Testing
Early detection through TNFSF11 gene testing provides numerous advantages:
- Accurate diagnosis enabling targeted treatment strategies
- Early intervention to prevent complications
- Family planning guidance for affected individuals
- Personalized medical management approaches
- Reduced diagnostic uncertainty and medical costs
- Improved quality of life through timely interventions
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your results effectively:
- Positive Result: Indicates presence of TNFSF11 gene mutations; consult with specialists for management
- Negative Result: No detected mutations; consider other diagnostic possibilities
- Variant of Uncertain Significance: Requires additional family studies and clinical correlation
- Carrier Status: Important information for family planning decisions
Test Pricing and Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
| Turnaround Time | 3-4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and medical professionals ensures you receive the highest quality care regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic bone disorders affect your quality of life. Our TNFSF11 Gene Osteopetrosis Test provides the clarity you need for informed medical decisions. Contact our genetic specialists today to schedule your test and begin your journey toward better health management.
Call or WhatsApp: +1(267) 388-9828 to book your genetic test appointment. Our team is ready to answer your questions and guide you through the testing process with compassion and expertise.
