COG1 Gene Glycosylation Disorder Type 2G NGS Genetic DNA Test
Comprehensive Genetic Testing for Metabolic Disorders
The COG1 Gene Glycosylation Disorder Type 2G NGS Genetic DNA Test represents a breakthrough in diagnostic medicine for individuals suspected of having congenital disorders of glycosylation. This advanced genetic screening utilizes next-generation sequencing technology to identify specific mutations in the COG1 gene that disrupt normal cellular processes essential for proper protein modification and function.
What is Glycosylation Disorder Type 2G?
Glycosylation disorders are rare inherited metabolic conditions where the body cannot properly attach sugar molecules to proteins, a process crucial for cellular communication, immune function, and organ development. Type 2G specifically involves mutations in the COG1 gene, which plays a vital role in the conserved oligomeric Golgi complex responsible for intracellular protein trafficking and modification.
What This Test Detects
Our comprehensive NGS genetic test specifically identifies:
- Pathogenic variants in the COG1 gene associated with glycosylation disorders
- Single nucleotide polymorphisms affecting protein glycosylation
- Insertion/deletion mutations disrupting normal cellular function
- Copy number variations impacting gene expression
- Specific genetic markers linked to metabolic pathway disruptions
Who Should Consider This Test
Clinical Indications and Symptoms
This genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological abnormalities including seizures or hypotonia
- Failure to thrive despite adequate nutrition
- Liver dysfunction or abnormal liver enzyme levels
- Coagulation disorders and bleeding tendencies
- Abnormal fat distribution patterns
- Family history of metabolic disorders or consanguinity
- Unexplained multisystem involvement affecting multiple organs
Benefits of COG1 Genetic Testing
Early detection through genetic testing provides numerous advantages:
- Accurate Diagnosis: Precise identification of the underlying genetic cause
- Personalized Treatment: Tailored therapeutic approaches based on genetic findings
- Family Planning: Essential information for genetic counseling and reproductive decisions
- Proactive Management: Early intervention to prevent disease progression
- Improved Outcomes: Better long-term prognosis through timely treatment
- Reduced Diagnostic Odyssey: Avoid unnecessary testing and medical procedures
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes detailed analysis and interpretation:
- Positive Result: Indicates presence of pathogenic COG1 gene mutations confirming diagnosis
- Negative Result: No detected mutations, though clinical correlation remains essential
- Variant of Uncertain Significance: Genetic changes requiring further clinical evaluation
- Carrier Status: Identification of individuals carrying single copies of mutated genes
All results are accompanied by detailed explanations and recommendations for follow-up care. Our genetic counseling team provides comprehensive support to help you understand your results and make informed healthcare decisions.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Test Specifications
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Testing Method: Next-Generation Sequencing (NGS) Technology
- Specialty: General Physician / Genetics
- Department: Genetics
- Disease Type: Metabolic Disorders
Pre-Test Requirements
Before testing, we recommend:
- Complete clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process
Nationwide Testing Availability
We have convenient testing locations 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 and reliable service nationwide.
Take Control of Your Genetic Health
Don’t let uncertainty about metabolic disorders affect your quality of life. Our COG1 Gene Glycosylation Disorder Type 2G NGS Genetic DNA Test provides the clarity you need for informed medical decisions. With advanced NGS technology and expert genetic analysis, you can trust our comprehensive testing approach.
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 dedicated team of genetic specialists is ready to guide you through the testing process, answer your questions, and provide the support you need throughout your genetic health journey. Book your appointment now and benefit from our current discounted pricing of only $500 USD.
