TCIRG1 Gene Osteopetrosis Autosomal Recessive Type 1 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone Density Disorders
The TCIRG1 Gene Osteopetrosis Autosomal Recessive Type 1 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying mutations in the TCIRG1 gene, which plays a critical role in bone remodeling and immune system function. This specialized genetic test utilizes Next-Generation Sequencing technology to provide comprehensive analysis of the TCIRG1 gene, enabling accurate diagnosis of autosomal recessive osteopetrosis type 1—a rare but serious genetic disorder characterized by abnormally dense bones that can lead to numerous health complications.
What This Advanced Genetic Test Detects
Our TCIRG1 Gene Osteopetrosis test specifically identifies pathogenic variants and mutations within the TCIRG1 gene that disrupt normal osteoclast function. The TCIRG1 gene encodes a subunit of the vacuolar proton pump essential for acidification of the resorption lacuna during bone remodeling. When mutations occur in this gene, osteoclasts cannot properly resorb bone, leading to the characteristic increased bone density seen in osteopetrosis.
- Detection of point mutations, insertions, and deletions in TCIRG1
- Identification of pathogenic variants affecting osteoclast function
- Analysis of genetic changes responsible for impaired bone resorption
- Comprehensive coverage of the entire TCIRG1 coding region
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with symptoms suggestive of osteopetrosis or those with a family history of bone density disorders. Key indications include:
- Infants and children with unexplained fractures or bone deformities
- Individuals with abnormally dense bones visible on X-rays
- Patients experiencing bone marrow failure or anemia
- Those with vision or hearing problems related to cranial nerve compression
- Individuals with delayed tooth eruption or dental abnormalities
- Patients with recurrent infections due to impaired immune function
- Family members of individuals diagnosed with osteopetrosis
- Couples with a family history planning pregnancy
Significant Benefits of Early Genetic Testing
Undergoing the TCIRG1 Gene Osteopetrosis test provides numerous advantages for patients and their families:
- Accurate Diagnosis: Confirms or rules out autosomal recessive osteopetrosis type 1
- Treatment Guidance: Informs appropriate medical interventions and management strategies
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Enables proactive management to prevent complications
- Bone Marrow Transplant Consideration: Helps determine candidacy for potentially curative treatment
- Comprehensive Care Planning: Facilitates multidisciplinary approach involving orthopedics, hematology, and genetics
Understanding Your Test Results
Our genetic counseling team provides comprehensive interpretation of your TCIRG1 Gene Osteopetrosis test results:
- Positive Result: Indicates the presence of pathogenic mutations in the TCIRG1 gene, confirming diagnosis of autosomal recessive osteopetrosis type 1
- Negative Result: Suggests that TCIRG1 mutations are not detected, though other genetic causes of osteopetrosis may need consideration
- Variant of Uncertain Significance: Identifies genetic changes whose clinical significance requires further investigation
- Carrier Status: Determines if an individual carries one copy of a mutated TCIRG1 gene
All results are accompanied by detailed genetic counseling to ensure complete understanding and appropriate next steps for medical management.
Test Pricing and Availability
| Test Name | Discount Price | Regular Price |
|---|---|---|
| TCIRG1 Gene Osteopetrosis Autosomal Recessive Type 1 NGS Genetic DNA Test | 500 USD | 700 USD |
Nationwide Testing Availability
We proudly offer the TCIRG1 Gene Osteopetrosis test at our state-of-the-art facilities across the United States. Our network includes specialized testing centers in:
- New York City, NY
- Los Angeles, CA
- Chicago, IL
- Houston, TX
- Phoenix, AZ
- Philadelphia, PA
- San Antonio, TX
- San Diego, CA
- Dallas, TX
- San Jose, CA
With additional locations in all major metropolitan areas, we ensure convenient access to advanced genetic testing services nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about bone density disorders affect your quality of life. Our TCIRG1 Gene Osteopetrosis Autosomal Recessive Type 1 NGS Genetic DNA Test provides the answers you need for informed healthcare decisions. With rapid turnaround times of 3-4 weeks and comprehensive genetic counseling support, we make advanced genetic testing accessible and understandable.
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.
Our team of genetic specialists is ready to guide you through the testing process, from pre-test counseling to result interpretation and ongoing support. Early detection through genetic testing can significantly impact treatment outcomes and quality of life for individuals affected by osteopetrosis and related bone disorders.
