CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 NGS Genetic DNA Test
Comprehensive Genetic Analysis for Bone Density Disorders
The CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying genetic mutations associated with severe bone density disorders. This specialized genetic test focuses on the CLCN7 gene, which plays a critical role in bone remodeling and skeletal development. Osteopetrosis, commonly known as “marble bone disease,” is a rare genetic condition characterized by increased bone density and abnormal bone structure that can lead to significant health complications.
What This Test Measures and Detects
This advanced genetic test utilizes Next-Generation Sequencing (NGS) technology to comprehensively analyze the CLCN7 gene for mutations associated with autosomal recessive osteopetrosis type 4. The test specifically identifies:
- Pathogenic variants in the CLCN7 gene that disrupt chloride channel function
- Mutations affecting bone resorption and remodeling processes
- Genetic variations responsible for abnormal osteoclast activity
- Inherited patterns consistent with autosomal recessive transmission
- Specific nucleotide changes impacting protein structure and function
Who Should Consider This Genetic Test
This test is recommended for individuals presenting with symptoms suggestive of osteopetrosis or those with a family history of bone density disorders. Key indications include:
- Children or adults with recurrent bone fractures despite minimal trauma
- Individuals experiencing vision or hearing loss due to cranial nerve compression
- Patients with abnormal bone growth patterns or skeletal deformities
- Those with family history of osteopetrosis or related bone disorders
- Individuals with dental abnormalities or delayed tooth eruption
- Patients showing signs of bone marrow failure or anemia
- Children with failure to thrive or developmental delays
Clinical Benefits of Genetic Testing
Undergoing the CLCN7 Gene Osteopetrosis test provides numerous clinical advantages:
- Definitive Diagnosis: Confirms or rules out genetic causes of bone density abnormalities
- Early Intervention: Enables timely treatment before irreversible complications develop
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Personalized Treatment: Guides appropriate therapeutic approaches based on genetic findings
- Prognostic Information: Helps predict disease progression and potential complications
- Reduced Diagnostic Uncertainty: Eliminates the need for multiple invasive procedures
Understanding Your Test Results
Genetic test results require careful interpretation by qualified healthcare professionals. Your results may indicate:
- Positive Result: Identifies pathogenic mutations in the CLCN7 gene, confirming autosomal recessive osteopetrosis type 4 diagnosis
- Negative Result: No disease-causing mutations detected, though other genetic or non-genetic causes should be considered
- Variant of Uncertain Significance: Identifies genetic changes with unknown clinical impact requiring further evaluation
- Carrier Status: Identifies individuals with one mutated copy who may pass the condition to offspring
All positive results should be discussed with a genetic counselor to understand implications for treatment, monitoring, and family members.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many other cities. Our network of certified genetic testing facilities ensures accessible, reliable testing services nationwide.
Take Action for Your Bone Health
Don’t let uncertainty about bone density disorders affect your quality of life. Early genetic diagnosis can significantly impact treatment outcomes and prevent serious complications. Our team of genetic specialists and counselors are ready to guide you through the testing process and help interpret your results.
Book your CLCN7 Gene Osteopetrosis Autosomal Recessive Type 4 NGS Genetic DNA Test today by calling our genetic counseling hotline at +1(267) 388-9828 or schedule your appointment online. Take the first step toward understanding your genetic health and ensuring proper bone development and maintenance.
