COG1 Gene Glycosylation Disorder Type 2G NGS Genetic DNA Test
Comprehensive Genetic Testing for Congenital Disorders of Glycosylation
The COG1 Gene Glycosylation Disorder Type 2G NGS Genetic DNA Test represents a breakthrough in neurological genetic diagnostics, offering precise identification of mutations associated with congenital disorders of glycosylation (CDG). This advanced testing methodology provides crucial insights for patients and families affected by these complex genetic conditions.
What is COG1 Gene Glycosylation Disorder Type 2G?
Congenital disorders of glycosylation are a group of rare inherited metabolic disorders that affect the body’s ability to properly attach sugar molecules to proteins and fats. The COG1 gene plays a critical role in the conserved oligomeric Golgi complex, which is essential for proper glycosylation processes. Mutations in the COG1 gene lead to Type 2G glycosylation disorder, characterized by severe neurological manifestations and developmental challenges.
What Does This Test Measure and Detect?
Our comprehensive NGS genetic DNA test specifically targets:
- Complete sequencing of the COG1 gene to identify pathogenic variants
- Detection of single nucleotide polymorphisms (SNPs) affecting glycosylation
- Identification of insertions, deletions, and missense mutations
- Analysis of genetic variations impacting protein structure and function
- Assessment of inheritance patterns for genetic counseling purposes
Advanced Next-Generation Sequencing Technology
Utilizing state-of-the-art NGS technology, this test provides unparalleled accuracy in detecting even the most subtle genetic variations. The high-throughput sequencing approach ensures comprehensive coverage of the COG1 gene, delivering reliable results for clinical decision-making.
Who Should Consider This Genetic Test?
Clinical Indications and Symptoms
This test is recommended for individuals presenting with:
- Unexplained developmental delays in infancy or childhood
- Neurological symptoms including seizures, hypotonia, or ataxia
- Abnormal brain imaging findings suggestive of glycosylation disorders
- Family history of congenital disorders of glycosylation
- Multiple organ system involvement with neurological predominance
- Failure to thrive and feeding difficulties in early childhood
- Characteristic facial features associated with CDG syndromes
Genetic Counseling and Family Planning
Couples with a family history of COG1-related disorders should consider this test for reproductive planning. The results provide valuable information for assessing recurrence risks and exploring available reproductive options.
Benefits of COG1 Genetic Testing
Early and Accurate Diagnosis
Timely identification of COG1 gene mutations enables:
- Precise diagnosis eliminating diagnostic uncertainty
- Early intervention and appropriate management strategies
- Personalized treatment approaches based on genetic findings
- Improved prognostic accuracy and long-term planning
Comprehensive Patient Care
The test results facilitate:
- Targeted multidisciplinary care coordination
- Appropriate surveillance for associated complications
- Family genetic counseling and education
- Access to specialized support services and resources
Understanding Your Test Results
Interpretation Guidelines
Our comprehensive genetic report includes:
- Clear explanation of identified genetic variants
- Clinical significance assessment of detected mutations
- Inheritance pattern analysis and recurrence risk calculation
- Recommendations for additional testing if indicated
- Guidance for family member testing when appropriate
Professional Genetic Counseling
All positive results include a dedicated genetic counseling session to ensure complete understanding of the findings and their implications for patient care and family planning.
Test Information and Pricing
| Test Component | Details |
|---|---|
| Test Name | COG1 Gene Glycosylation Disorder Type 2G NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 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
Before testing, we recommend:
- Comprehensive clinical history documentation
- Genetic counseling session for pedigree analysis
- Discussion of testing implications and potential outcomes
- Informed consent process completion
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, and San Jose. Our network of certified genetic counselors and specialized neurologists ensures comprehensive care regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your health decisions. Our COG1 Gene Glycosylation Disorder Type 2G NGS Genetic DNA Test provides the answers you need for informed medical management and family planning.
Call us today at +1(267) 388-9828 to schedule your genetic counseling session and testing appointment. Our expert team is ready to guide you through the testing process and help you understand your genetic health.
Take control of your genetic health journey with confidence and clarity. Book your test now and benefit from our special discounted pricing of only $500 USD.
