IFITM5 Gene Osteogenesis Imperfecta Type 5 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone Fragility Disorders
The IFITM5 Gene Osteogenesis Imperfecta Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare bone disorders. This advanced test specifically targets mutations in the IFITM5 (Interferon Induced Transmembrane Protein 5) gene, which plays a crucial role in bone mineralization and development. Osteogenesis Imperfecta Type 5 is characterized by distinct clinical features that differentiate it from other forms of brittle bone disease, making accurate genetic diagnosis essential for proper management and treatment planning.
What Does This Test Measure and Detect?
Our comprehensive NGS-based genetic test provides detailed analysis of the IFITM5 gene to identify pathogenic variants associated with Osteogenesis Imperfecta Type 5. The test specifically detects:
- Single nucleotide variants (SNVs) in the IFITM5 gene coding regions
- Small insertions and deletions affecting gene function
- The specific c.-14C>T mutation in the 5’UTR region
- Other rare variants that may impact bone mineralization processes
- Genetic markers associated with abnormal bone matrix formation
Who Should Consider This Genetic Test?
This specialized genetic test is recommended for individuals presenting with specific clinical symptoms or family history patterns:
- Children and adults with recurrent bone fractures from minimal trauma
- Individuals with hyperplastic callus formation following fractures
- Patients showing calcification of interosseous membranes in forearms
- Those with blue sclerae and normal teeth (distinct from OI Type I)
- Family members of diagnosed Osteogenesis Imperfecta Type 5 patients
- Individuals with unexplained bone deformities or growth abnormalities
- Patients with suspected brittle bone disease without collagen mutations
Key Benefits of IFITM5 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Confirms or rules out Osteogenesis Imperfecta Type 5 with high precision
- Personalized Treatment Planning: Enables targeted therapeutic interventions based on genetic profile
- Family Planning Guidance: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention Opportunities: Facilitates proactive management strategies before severe complications develop
- Differential Diagnosis: Helps distinguish OI Type 5 from other bone fragility disorders
- Prognostic Information: Offers insights into disease progression and potential complications
- Research Contribution: Advances understanding of rare bone disorders through genetic data collection
Understanding Your Test Results
Our genetic specialists provide comprehensive interpretation of your IFITM5 gene analysis results:
- Positive Result: Indicates the presence of a pathogenic IFITM5 mutation associated with Osteogenesis Imperfecta Type 5. This confirms the diagnosis and enables targeted management strategies.
- Negative Result: Suggests that IFITM5 mutations are not detected, though other genetic causes of bone fragility should be considered if clinical symptoms persist.
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unclear clinical implications, requiring further evaluation and possibly family studies.
- Carrier Status: For family members, results may indicate carrier status for autosomal dominant conditions.
All results include detailed clinical correlation and recommendations for follow-up care with appropriate specialists.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| IFITM5 Gene Osteogenesis Imperfecta Type 5 NGS Genetic DNA Test – Discount Price | $500 |
| IFITM5 Gene Osteogenesis Imperfecta Type 5 NGS Genetic DNA Test – Regular Price | $700 |
Nationwide Testing Availability
We proudly offer comprehensive genetic testing services across the United States with convenient locations in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, Austin, Jacksonville, Fort Worth, Columbus, Charlotte, San Francisco, Indianapolis, Seattle, Denver, Washington DC, Boston, El Paso, Nashville, Detroit, Oklahoma City, Portland, Las Vegas, Memphis, Louisville, Baltimore, and Milwaukee.
Take Control of Your Bone Health Today
Don’t let uncertainty about bone fragility disorders impact your quality of life. Our advanced IFITM5 genetic testing provides the clarity needed for proper diagnosis and management. With results available in just 3-4 weeks from simple blood or DNA samples, you can quickly gain valuable insights into your genetic bone health profile.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic consultation and testing appointment. Our genetic counselors are available to discuss your specific concerns and guide you through the testing process.
Remember to bring your clinical history and be prepared for a genetic counseling session to create a detailed family pedigree chart, which enhances the accuracy and clinical utility of your test results.
