COG8 Gene Glycosylation Disorder Type 2H NGS Genetic DNA Test
Understanding COG8 Glycosylation Disorders
COG8 Gene Glycosylation Disorder Type 2H represents a rare congenital disorder of glycosylation (CDG) that affects the proper processing and modification of proteins and lipids in the body. This condition stems from mutations in the COG8 gene, which plays a critical role in the conserved oligomeric Golgi (COG) complex – an essential cellular machinery responsible for maintaining Golgi apparatus structure and function. The Golgi apparatus serves as the primary processing center for glycoproteins and glycolipids, making proper glycosylation vital for numerous biological processes including cell signaling, immune function, and neurological development.
What This Advanced Genetic Test Detects
Our comprehensive NGS Genetic DNA Test specifically targets and analyzes the COG8 gene to identify pathogenic variants responsible for Type 2H Glycosylation Disorders. The test examines:
- Complete coding regions of the COG8 gene
- Exon-intron boundaries for splice site mutations
- Copy number variations and structural rearrangements
- Point mutations, insertions, and deletions affecting protein function
- Variants impacting the conserved oligomeric Golgi complex assembly
Who Should Consider COG8 Genetic Testing?
Clinical Indications and Symptoms
This specialized genetic test is recommended for individuals presenting with:
- Unexplained neurological symptoms including seizures, ataxia, or hypotonia
- Developmental delays in motor skills, speech, or cognitive abilities
- Abnormal liver function tests or coagulopathy without clear cause
- Failure to thrive in infancy or childhood
- Characteristic facial features associated with CDG syndromes
- Family history of glycosylation disorders or consanguineous parents
- Abnormal transferrin glycosylation patterns in previous testing
Significant Benefits of Early Detection
Early identification of COG8 gene mutations through our advanced NGS testing provides numerous clinical advantages:
- Accurate Diagnosis: Eliminates diagnostic uncertainty and enables targeted management strategies
- Personalized Treatment: Guides specific therapeutic interventions and supportive care measures
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Insights: Helps predict disease progression and potential complications
- Research Contribution: Advances understanding of rare glycosylation disorders
Understanding Your Test Results
Interpretation Guidance
Our comprehensive genetic report includes detailed analysis and clinical correlation:
- Positive Result: Identification of pathogenic COG8 variants confirms diagnosis of Glycosylation Disorder Type 2H, enabling targeted management and family screening
- Negative Result: Absence of detectable COG8 mutations suggests alternative diagnoses should be considered, though does not completely rule out the condition
- Variant of Uncertain Significance: Novel genetic changes requiring further investigation and possible family studies
- Carrier Status: Identification of individuals carrying one mutated COG8 allele with implications for family planning
Test Specifications and Pricing
| Test Component | Details |
|---|---|
| Test Name | COG8 Gene Glycosylation Disorder Type 2H 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
To ensure optimal testing outcomes, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session to create detailed family pedigree
- Discussion of testing implications and potential outcomes
- Informed consent process understanding benefits and limitations
Nationwide Accessibility
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 counselors and healthcare professionals ensures consistent, high-quality care regardless of location.
Take the Next Step Toward Clarity
Don’t let diagnostic uncertainty delay appropriate care. Our COG8 Gene Glycosylation Disorder Type 2H NGS Genetic DNA Test provides the definitive answers needed for effective management of complex neurological conditions. With our discounted price of $500 USD and comprehensive genetic analysis, you can make informed decisions about your health or your loved one’s wellbeing.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book this essential diagnostic test. Our team of genetic specialists is ready to guide you through every step of the testing process and help interpret your results for optimal clinical management.
