COG7 Gene Glycosylation Disorder Type 2E NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The COG7 Gene Glycosylation Disorder Type 2E NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying congenital disorders of glycosylation (CDG). This specialized genetic analysis focuses on the COG7 gene, which plays a critical role in the proper functioning of the conserved oligomeric Golgi complex. When mutations occur in this gene, they disrupt essential glycosylation processes, leading to severe metabolic and developmental challenges that affect multiple organ systems.
What This Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology specifically targets and analyzes the COG7 gene to identify pathogenic variants responsible for Glycosylation Disorder Type 2E. The test examines:
- Complete COG7 gene sequencing for comprehensive mutation detection
- Point mutations, insertions, and deletions affecting protein function
- Genetic variations that disrupt Golgi complex assembly and function
- Inheritance patterns for family genetic counseling
- Specific biomarkers associated with glycosylation pathway disruptions
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with symptoms suggestive of congenital disorders of glycosylation, including:
- Infants and children with unexplained developmental delays
- Patients with neurological abnormalities including seizures and hypotonia
- Individuals with multi-system involvement including liver dysfunction
- Those with abnormal coagulation profiles and bleeding tendencies
- Patients with distinctive facial features and skeletal abnormalities
- Families with history of metabolic disorders or unexplained infant mortality
Key Benefits of COG7 Genetic Testing
Undergoing this comprehensive genetic analysis provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Precise identification of COG7 gene mutations enables targeted treatment approaches
- Early Intervention: Timely detection allows for proactive management of metabolic complications
- Family Planning: Genetic counseling based on test results supports informed reproductive decisions
- Personalized Care: Test outcomes guide development of individualized therapeutic strategies
- Prognostic Information: Understanding genetic variants helps predict disease progression and outcomes
Understanding Your Test Results
Our comprehensive genetic report provides detailed analysis and interpretation of your COG7 gene sequencing results. The report includes:
- Clear identification of detected genetic variants and their clinical significance
- Explanation of how specific mutations affect glycosylation processes
- Guidance on inheritance patterns and family member testing recommendations
- Correlation between genetic findings and clinical manifestations
- Recommendations for ongoing monitoring and specialized care requirements
Test Pricing Information
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Nationwide Testing Availability
We proudly offer COG7 Gene Glycosylation Disorder Type 2E NGS Genetic DNA testing across our extensive network of diagnostic centers throughout the United States. Our facilities are conveniently located in major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, and San Jose. Each location maintains the highest standards of genetic testing excellence and patient care.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our specialized COG7 genetic testing provides the clarity needed for effective healthcare planning and management. With results available within 3-4 weeks and multiple sample collection options including blood, extracted DNA, or blood spots on FTA cards, accessing this advanced diagnostic service has never been more convenient.
Ready to schedule your genetic test? Contact our genetic counseling team at +1(267) 388-9828 or book your appointment online to begin your journey toward accurate diagnosis and personalized care.
