PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures NGS Genetic DNA Test
Comprehensive Genetic Analysis for Brittle Bone Disorders
The PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare skeletal disorders. This advanced testing methodology provides crucial insights into the genetic basis of a specific form of osteogenesis imperfecta characterized by both bone fragility and congenital joint contractures. Understanding the underlying genetic mutations is essential for accurate diagnosis, prognosis determination, and personalized treatment planning.
What Does This Test Measure and Detect?
This sophisticated genetic test specifically targets the PLOD2 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2) gene, which plays a critical role in collagen cross-linking and bone matrix formation. The test utilizes Next-Generation Sequencing technology to:
- Identify pathogenic variants in the PLOD2 gene
- Detect mutations responsible for Bruck syndrome type 2
- Analyze genetic variations affecting collagen modification
- Provide comprehensive coverage of all coding regions
- Identify both inherited and de novo mutations
Who Should Consider This Genetic Test?
This test is particularly recommended for individuals presenting with the following clinical features:
- Recurrent fractures with minimal trauma
- Congenital joint contractures affecting mobility
- Progressive skeletal deformities
- Family history of osteogenesis imperfecta
- Connective tissue abnormalities
- Delayed motor development in children
- Blue sclerae and dental abnormalities
- Short stature and bone fragility
Significant Benefits of Genetic Testing
Undergoing the PLOD2 genetic test provides numerous advantages for patients and families:
- Accurate Diagnosis: Confirms or rules out specific genetic causes of bone fragility
- Personalized Treatment: Guides targeted therapeutic interventions
- Genetic Counseling: Enables informed family planning decisions
- Prognostic Information: Helps predict disease progression and complications
- Early Intervention: Facilitates timely management strategies
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic analysis provides detailed insights into your PLOD2 gene status:
- Positive Result: Indicates the presence of pathogenic mutations associated with osteogenesis imperfecta with congenital joint contractures
- Negative Result: Suggests no detectable mutations in the PLOD2 gene, though other genetic causes may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if you carry a single copy of a mutated gene
All results are accompanied by detailed interpretation from our board-certified genetic specialists, ensuring you receive comprehensive guidance and next-step recommendations.
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States, with convenient locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Our state-of-the-art laboratories ensure consistent, high-quality results regardless of your location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about your genetic health prevent you from getting the answers you need. Our PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures NGS Genetic DNA Test provides the clarity required for informed medical decisions and personalized care planning.
Ready to schedule your 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 securing your family’s future.
