CA2 Gene Osteopetrosis Autosomal Recessive Type 3 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Bone Disorders
The CA2 Gene Osteopetrosis Autosomal Recessive Type 3 NGS Genetic DNA Test represents a breakthrough in molecular diagnostics for rare inherited bone disorders. This specialized genetic test utilizes cutting-edge Next-Generation Sequencing (NGS) technology to analyze the CARBONIC ANHYDRASE II (CA2) gene, which plays a critical role in bone remodeling and acid-base balance regulation throughout the body.
What Does This Test Measure?
This comprehensive genetic test specifically targets and sequences the entire CA2 gene to identify pathogenic mutations responsible for Autosomal Recessive Osteopetrosis Type 3. The test detects:
- Point mutations in the CA2 gene coding regions
- Small insertions and deletions affecting gene function
- Missense, nonsense, and frameshift mutations
- Splice site variants that disrupt normal protein production
- Complete gene sequencing with 99.9% accuracy
Who Should Consider This Genetic Test?
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained bone fractures with minimal trauma
- Delayed growth and development in children
- Vision or hearing problems related to cranial nerve compression
- Family history of osteopetrosis or related bone disorders
- Metabolic acidosis with renal involvement
- Cerebral calcification detected on imaging studies
- Dental abnormalities and delayed tooth eruption
- Anemia or other hematological complications
Clinical Benefits of Genetic Testing
Undergoing the CA2 Gene Osteopetrosis test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out Autosomal Recessive Osteopetrosis Type 3
- Personalized Treatment: Enables targeted therapeutic interventions
- Family Planning: Provides crucial information for genetic counseling
- Early Intervention: Facilitates proactive management of complications
- Disease Monitoring: Establishes baseline for ongoing care
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic counseling service helps you interpret your results:
- Positive Result: Indicates presence of pathogenic CA2 gene mutations confirming diagnosis
- Negative Result: Suggests absence of detectable mutations in the CA2 gene
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Identifies individuals with single mutation copies
All results include detailed explanations and recommendations for next steps from our certified genetic counselors.
Test Pricing and Availability
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We provide 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, and San Jose. Our state-of-the-art laboratories ensure consistent, reliable results 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 specialized CA2 Gene Osteopetrosis testing provides the answers you need for informed healthcare decisions. With rapid 3-4 week turnaround time and simple sample collection (blood, extracted DNA, or blood spot on FTA card), getting tested has never been easier.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your CA2 Gene Osteopetrosis Autosomal Recessive Type 3 NGS Genetic DNA Test. Our expert genetic counselors are available to answer your questions and guide you through the testing process.
