OSTM1 Gene Osteopetrosis Autosomal Recessive Type 5 NGS Genetic DNA Test
Comprehensive Genetic Screening for Bone Density Disorders
The OSTM1 Gene Osteopetrosis Autosomal Recessive Type 5 NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare bone disorders. This advanced test specifically targets mutations in the OSTM1 gene, which plays a critical role in bone remodeling and immune system function. Osteopetrosis, commonly known as “marble bone disease,” is characterized by abnormally dense bones that are paradoxically fragile and prone to fractures.
What This Test Measures and Detects
Our state-of-the-art NGS (Next-Generation Sequencing) technology comprehensively analyzes the OSTM1 gene to identify:
- Pathogenic variants responsible for autosomal recessive osteopetrosis type 5
- Single nucleotide polymorphisms (SNPs) affecting bone metabolism
- Deletion and insertion mutations impacting protein function
- Genetic markers associated with severe bone density abnormalities
- Variants affecting osteoclast function and bone resorption
Who Should Consider This Genetic Test
This specialized genetic screening is recommended for individuals presenting with:
- Unexplained frequent bone fractures despite minimal trauma
- Progressive vision or hearing loss in childhood
- Family history of osteopetrosis or related bone disorders
- Recurrent infections suggesting immune system compromise
- Delayed tooth eruption or dental abnormalities
- Bone marrow failure symptoms including anemia and thrombocytopenia
- Neurological complications such as cranial nerve compression
- Consanguineous parentage with suspected genetic disorders
Significant Benefits of OSTM1 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages:
- Early and Accurate Diagnosis: Enables precise identification of the underlying genetic cause
- Personalized Treatment Planning: Guides targeted therapeutic interventions
- Family Planning Guidance: Provides crucial information for genetic counseling
- Proactive Management: Facilitates early intervention to prevent complications
- Comprehensive Care Coordination: Connects patients with specialized medical teams
- Research Contribution: Advances understanding of rare genetic bone disorders
Understanding Your Test Results
Our genetic specialists provide comprehensive result interpretation:
- Positive Result: Indicates presence of OSTM1 gene mutations; requires consultation with metabolic bone disease specialists
- Negative Result: Suggests absence of tested OSTM1 variants; may require additional genetic testing
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact; requires ongoing monitoring
- Carrier Status: Determines risk of passing the condition to offspring
All results include detailed explanations and recommendations for next steps, including referrals to appropriate specialists in dermatology, immunology, and bone metabolism.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Understanding of potential outcomes and next steps
Nationwide Accessibility
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 specialized physicians ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic bone disorders impact your health decisions. Our OSTM1 Gene Osteopetrosis Autosomal Recessive Type 5 NGS Genetic DNA Test provides the answers you need for informed medical planning. With advanced NGS technology and expert genetic analysis, we deliver reliable results that can transform your healthcare journey.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic screening appointment. Our dedicated team is ready to assist you with testing coordination, insurance questions, and result interpretation.
Take control of your genetic health with confidence and clarity. Book your OSTM1 genetic test now and embark on the path to personalized medical care.
