COG7 Gene Glycosylation Disorder Type 2E NGS Genetic DNA Test
Comprehensive Genetic Analysis for Neurological Disorders
The COG7 Gene Glycosylation Disorder Type 2E NGS Genetic DNA Test represents a cutting-edge diagnostic tool for identifying congenital disorders of glycosylation (CDG), specifically type 2E. This specialized genetic test focuses on the COG7 gene, which plays a critical role in the proper functioning of the conserved oligomeric Golgi (COG) complex. This complex is essential for maintaining Golgi structure and function, particularly in protein glycosylation processes that are vital for normal cellular communication and neurological development.
What This Test Measures and Detects
Our advanced NGS (Next-Generation Sequencing) technology provides comprehensive analysis of the COG7 gene to identify:
- Pathogenic mutations in the COG7 gene responsible for CDG type 2E
- Single nucleotide variants (SNVs) and small insertions/deletions
- Copy number variations (CNVs) affecting gene function
- Compound heterozygous or homozygous mutations
- Novel genetic variants with potential clinical significance
The test specifically examines the genetic basis for impaired protein glycosylation, which disrupts normal cellular processes and leads to the characteristic neurological symptoms associated with this disorder.
Who Should Consider This Genetic Test
This specialized genetic testing is recommended for individuals presenting with:
- Unexplained developmental delay or intellectual disability
- Severe hypotonia (muscle weakness) in infancy
- Recurrent seizures or epilepsy of unknown origin
- Abnormal brain imaging findings
- Failure to thrive and feeding difficulties
- Family history of congenital disorders of glycosylation
- Suspected inherited neurological conditions
- Consanguineous parents with neurological symptoms in offspring
Clinical Benefits of COG7 Genetic Testing
Undergoing COG7 gene testing provides numerous clinical advantages:
- Accurate Diagnosis: Confirms or rules out CDG type 2E with high precision
- Personalized Treatment: Enables targeted therapeutic approaches based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Prognostic Information: Helps predict disease progression and potential complications
- Early Intervention: Facilitates timely implementation of supportive therapies
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report includes detailed interpretation of your results:
- Positive Result: Indicates the presence of pathogenic mutations in the COG7 gene, confirming CDG type 2E diagnosis
- Negative Result: Suggests that COG7 mutations are not the cause of symptoms, though other genetic causes should be considered
- Variant of Uncertain Significance (VUS): Identifies genetic changes with unknown clinical impact, requiring further evaluation
- Carrier Status: Determines if individuals carry one copy of a mutated gene without showing symptoms
All results are accompanied by detailed clinical interpretation and recommendations from our board-certified genetic specialists.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | COG7 Gene Glycosylation Disorder Type 2E 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 |
| Methodology | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation of the patient
- Genetic counseling session to create a detailed family pedigree chart
- Identification of family members affected with similar neurological symptoms
- Discussion of testing implications and potential outcomes with our genetic specialists
Nationwide Testing Availability
We proudly serve patients across the United States with convenient testing locations in all major cities including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified collection centers ensures accessible genetic testing services nationwide.
Take the Next Step Toward Diagnosis
Don’t let unexplained neurological symptoms remain a mystery. Our COG7 Gene Glycosylation Disorder Type 2E NGS Genetic DNA Test provides the answers you need for proper diagnosis and treatment planning. With our discounted price of $500 USD and comprehensive genetic analysis, you can gain valuable insights into your or your loved one’s condition.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take control of your neurological health journey.
