TNFRSF11A Gene Osteopetrosis Autosomal Recessive Type 7 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Bone Disorders
The TNFRSF11A Gene Osteopetrosis Autosomal Recessive Type 7 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal disorders. This advanced test specifically targets mutations in the TNFRSF11A gene, which plays a critical role in bone remodeling and immune system function. Osteopetrosis, commonly known as “marble bone disease,” is characterized by increased bone density and skeletal abnormalities that can significantly impact quality of life.
What This Test Measures and Detects
Our comprehensive NGS genetic DNA test employs cutting-edge next-generation sequencing technology to analyze the entire TNFRSF11A gene for pathogenic variants. The test specifically identifies:
- Point mutations and single nucleotide variants
- Insertions and deletions affecting gene function
- Splice site mutations disrupting protein production
- Regulatory region variants impacting gene expression
- Compound heterozygous mutations in autosomal recessive inheritance
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained bone fractures or increased bone fragility
- Family history of osteopetrosis or related bone disorders
- Skeletal abnormalities detected through imaging studies
- Developmental delays associated with bone density issues
- Hematological abnormalities suggesting bone marrow involvement
- Dental abnormalities and delayed tooth eruption
- Vision or hearing problems related to cranial nerve compression
Clinical Benefits of Genetic Testing
Undergoing the TNFRSF11A genetic test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out autosomal recessive osteopetrosis type 7
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management before severe complications develop
- Disease Monitoring: Establishes baseline for tracking disease progression
- Research Contribution: Advances understanding of rare genetic bone disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed interpretation of your results:
- Positive Result: Indicates presence of pathogenic mutations in TNFRSF11A gene, confirming diagnosis of autosomal recessive osteopetrosis type 7
- Negative Result: Suggests absence of detectable mutations in the TNFRSF11A gene, though other genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unclear clinical impact, requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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, and many more. Our network of certified genetic counselors and healthcare professionals ensures accessible, high-quality genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic bone disorders affect your quality of life. Our TNFRSF11A Gene Osteopetrosis Autosomal Recessive Type 7 NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With results available in 3-4 weeks and comprehensive genetic counseling support, you’ll receive the expert guidance necessary for managing your condition effectively.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward understanding your genetic health.
