COG5 Gene Glycosylation Disorder Type 2I NGS Genetic DNA Test
Comprehensive Genetic Analysis for Metabolic Disorders
The COG5 Gene Glycosylation Disorder Type 2I NGS Genetic DNA Test represents a breakthrough in diagnostic precision for inherited metabolic conditions. This advanced genetic screening utilizes next-generation sequencing technology to identify specific mutations in the COG5 gene that disrupt normal glycosylation processes—essential biological mechanisms responsible for attaching sugar molecules to proteins and lipids. When these processes malfunction, it leads to Congenital Disorders of Glycosylation (CDG), a group of rare but serious metabolic conditions affecting multiple organ systems.
What This Test Measures and Detects
This specialized genetic test specifically targets the COG5 gene, which encodes a critical component of the conserved oligomeric Golgi complex. Through comprehensive NGS analysis, the test identifies:
- Pathogenic variants and mutations in the COG5 gene
- Single nucleotide polymorphisms associated with glycosylation disorders
- Copy number variations affecting gene function
- Specific genetic markers linked to Type 2I glycosylation disorder
- Inheritance patterns for genetic counseling purposes
Who Should Consider This Genetic Test
This test is particularly recommended for individuals presenting with symptoms suggestive of congenital glycosylation disorders, including:
- Infants and children with unexplained developmental delays
- Patients with neurological symptoms such as seizures or ataxia
- Individuals with abnormal liver function tests without clear cause
- Patients with coagulopathies or bleeding disorders
- Those with distinctive facial features associated with CDG syndromes
- Individuals with family history of metabolic disorders
- Patients with failure to thrive or feeding difficulties in infancy
Significant Benefits of Genetic Testing
Undergoing the COG5 Gene Glycosylation Disorder Type 2I test provides numerous advantages for patients and healthcare providers:
- Accurate Diagnosis: Provides definitive identification of specific genetic mutations
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic profile
- Family Planning: Offers crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates prompt medical management to prevent complications
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Contributes to broader understanding of rare metabolic disorders
Understanding Your Test Results
Our comprehensive genetic report provides detailed analysis and interpretation of your results:
- Positive Result: Indicates the presence of pathogenic COG5 gene mutations associated with glycosylation disorder type 2I. This confirms the diagnosis and enables targeted management strategies.
- Negative Result: Suggests no detectable mutations in the COG5 gene, though other genetic or metabolic conditions may need consideration.
- Variant of Uncertain Significance: Some genetic changes may have unknown clinical implications, requiring further evaluation and monitoring.
All results are accompanied by detailed explanations and recommendations from our certified genetic counselors to ensure complete understanding and appropriate next steps.
Test Pricing Information
| Price Type | Amount (USD) |
|---|---|
| Discount Price | $500 |
| Regular Price | $700 |
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 genetic testing facilities ensures accessibility and consistent quality standards nationwide.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our COG5 Gene Glycosylation Disorder Type 2I NGS Genetic DNA Test provides the clarity needed for informed medical decisions. With results available in 3-4 weeks and multiple sample collection options including blood, extracted DNA, or a simple blood spot on FTA card, getting tested has never been more convenient.
Call or WhatsApp us now at +1(267) 388-9828 to schedule your genetic counseling session and book your test. Our expert genetic counselors are ready to guide you through the testing process and help you understand your results.
