COG4 Gene Glycosylation Disorder Type 2J NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The COG4 Gene Glycosylation Disorder Type 2J NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. This advanced testing method utilizes next-generation sequencing technology to identify specific mutations in the COG4 gene, which plays a critical role in the conserved oligomeric Golgi complex essential for proper protein glycosylation. Glycosylation disorders represent a group of inherited metabolic diseases affecting multiple organ systems, and early detection through genetic testing can significantly impact patient outcomes and quality of life.
What This Test Measures and Detects
Our comprehensive genetic analysis specifically targets:
- Complete sequencing of the COG4 gene coding regions
- Detection of point mutations, insertions, and deletions
- Identification of pathogenic variants associated with Congenital Disorders of Glycosylation Type 2J
- Analysis of genetic markers affecting Golgi apparatus function
- Assessment of protein glycosylation pathway integrity
The test employs state-of-the-art NGS technology with 99.9% accuracy in variant detection, ensuring reliable results for clinical decision-making. Our laboratory follows stringent quality control measures and adheres to CLIA-certified standards for genetic testing excellence.
Who Should Consider This Genetic Test
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or ataxia
- Abnormal liver function tests without clear etiology
- Coagulation disorders and abnormal protein electrophoresis patterns
- Family history of glycosylation disorders or consanguineous parents
- Multiple congenital anomalies affecting various organ systems
- Failure to thrive and feeding difficulties in early childhood
- Abnormal transferrin glycosylation patterns in laboratory screening
Significant Benefits of Genetic Testing
Undergoing the COG4 Gene Glycosylation Disorder Type 2J test provides numerous advantages:
- Accurate Diagnosis: Precise identification of genetic mutations enables targeted treatment approaches
- Family Planning Guidance: Genetic counseling based on test results assists in reproductive decision-making
- Early Intervention: Timely diagnosis allows for proactive management of symptoms and complications
- Personalized Care: Test results inform customized therapeutic strategies and monitoring protocols
- Genetic Confirmation: Definitive genetic diagnosis eliminates diagnostic uncertainty and unnecessary testing
- Research Contribution: Participation advances scientific understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation and clinical guidance:
- Positive Result: Indicates the presence of pathogenic COG4 gene mutations associated with glycosylation disorder type 2J. Our genetic counselors provide detailed explanations and connect you with appropriate specialists.
- Negative Result: Suggests no detectable mutations in the COG4 gene, though other genetic causes may need consideration based on clinical presentation.
- Variant of Uncertain Significance: Some genetic changes may require additional family studies or research correlation for definitive interpretation.
- Carrier Status: Identification of individuals carrying one copy of a mutated gene, important for family planning decisions.
All results include detailed clinical correlations, management recommendations, and genetic counseling support to ensure comprehensive understanding and appropriate next steps.
Test Pricing and Availability
| Test Feature | Details |
|---|---|
| Test Name | COG4 Gene Glycosylation Disorder Type 2J NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
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 collection centers ensures accessible genetic testing services for families nationwide.
Pre-Test Requirements and Preparation
Before scheduling your genetic test, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to discuss testing implications
- Development of a detailed family pedigree chart
- Review of previous laboratory and diagnostic studies
- Discussion of potential outcomes and their clinical significance
Our genetic specialists are available to guide you through the pre-test process and ensure you have all necessary information for informed decision-making.
Take the Next Step Toward Genetic Clarity
Don’t let diagnostic uncertainty delay appropriate care. Our COG4 Gene Glycosylation Disorder Type 2J NGS Genetic DNA Test provides the definitive answers needed for effective management of metabolic disorders. With our discounted price of $500 USD and comprehensive genetic counseling support, you can access world-class genetic testing with confidence.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your health journey.
Our dedicated team of genetic specialists, metabolic physicians, and genetic counselors are committed to providing exceptional care and support throughout your testing experience. Trust General Genetics Corporation for accurate, reliable, and compassionate genetic testing services.
