COG6 Gene Glycosylation Disorder Type 3 NGS Genetic DNA Test
Comprehensive Introduction to COG6 Genetic Testing
The COG6 Gene Glycosylation Disorder Type 3 NGS Genetic DNA Test represents a cutting-edge diagnostic approach for identifying congenital disorders of glycosylation (CDG), specifically targeting mutations in the COG6 gene. This specialized test utilizes next-generation sequencing technology to provide comprehensive analysis of genetic variations associated with glycosylation pathway defects. Glycosylation disorders are rare metabolic conditions that affect the body’s ability to properly attach sugar molecules to proteins, a crucial process for cellular function and development.
What This Advanced Genetic Test Measures
Our COG6 Gene Glycosylation Disorder Type 3 NGS Genetic DNA Test specifically detects:
- Pathogenic variants in the COG6 gene responsible for CDG type 3
- Single nucleotide variants (SNVs) affecting glycosylation pathways
- Small insertions and deletions impacting protein function
- Copy number variations within the COG6 genomic region
- Regulatory mutations affecting gene expression
Clinical Significance of COG6 Mutations
The COG6 gene encodes a crucial component of the conserved oligomeric Golgi complex, which plays a vital role in intracellular protein trafficking and glycosylation. Mutations in this gene disrupt normal glycosylation processes, leading to multisystem clinical manifestations that can affect neurological development, growth patterns, and multiple organ systems.
Who Should Consider COG6 Genetic Testing
This specialized genetic test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or ataxia
- Failure to thrive and growth retardation
- Abnormal liver function tests without clear etiology
- Coagulation abnormalities and bleeding tendencies
- Dysmorphic facial features associated with metabolic disorders
- Family history of glycosylation disorders or unexplained infant deaths
- Abnormal transferrin glycosylation patterns in laboratory screening
Early Detection Benefits
Early identification of COG6 mutations enables proactive management strategies and can significantly improve long-term outcomes through targeted interventions and specialized care protocols.
Significant Benefits of COG6 Genetic Testing
Undergoing COG6 Gene Glycosylation Disorder Type 3 testing provides numerous advantages:
- Accurate Diagnosis: Provides definitive molecular confirmation of CDG type 3
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Offers crucial information for reproductive decision-making
- Prognostic Insights: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive care measures
- Research Contribution: Contributes to ongoing scientific understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic counseling services help you interpret your COG6 test results:
Positive Result Interpretation
A positive result indicates the presence of pathogenic variants in the COG6 gene, confirming a diagnosis of congenital disorder of glycosylation type 3. Our genetic counselors will provide detailed explanations of the specific mutation, its inheritance pattern, and implications for family members.
Negative Result Considerations
A negative result suggests that no pathogenic variants were detected in the COG6 gene. However, this does not completely rule out glycosylation disorders, as other genetic or metabolic conditions may present with similar clinical features.
Variant of Uncertain Significance
In some cases, genetic variants of uncertain significance may be identified. Our team provides ongoing support and may recommend additional testing or family studies to clarify the clinical relevance of these findings.
Test Pricing and Service Details
| Test Component | Price (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
Additional Service Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood, Extracted DNA, or One Drop Blood on FTA Card
- Pre-test Requirements: Clinical History and Genetic Counseling Session
- Testing Methodology: Next-Generation Sequencing (NGS) Technology
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 other cities. Our network of certified genetic counselors and medical professionals ensures consistent, high-quality care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about metabolic disorders affect your family’s future. Our COG6 Gene Glycosylation Disorder Type 3 NGS Genetic DNA Test provides the answers you need for informed medical decisions and comprehensive care planning.
Book your genetic test today by calling our dedicated genetic counseling team at +1(267) 388-9828 or schedule your appointment online. Take control of your genetic health with confidence and precision.
