COG7 Gene Glycosylation disorder type 2E NGS Genetic Test
Short Name: COG7 Gene Glycosylation Disorder Type 2E NGS Test
Also known as: COG7 Gene Test, Glycosylation Disorder Type 2E Genetic Test, CDG Type 2E Test
COG7 Gene Glycosylation disorder type 2E NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the COG7 Gene Glycosylation Disorder Type 2E NGS Genetic Test is to identify pathogenic mutations in the COG7 gene that cause glycosylation disorder type 2E, enabling definitive diagnosis and guiding medical management.
- Test Code
- 2049
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Inform the patient about the test purpose and procedure. Obtain informed consent.
Method: Venipuncture
Laboratory Analysis
Collect blood sample using standard venipuncture techniques or FTA card.
Report Delivery
Label the sample correctly and transport to the laboratory under appropriate conditions.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the COG7 Gene Glycosylation Disorder Type 2E NGS Genetic Test is to identify pathogenic mutations in the COG7 gene that cause glycosylation disorder type 2E, enabling definitive diagnosis and guiding medical management.
How to Prepare
- Ensure proper patient identification
- Use sterile equipment
- Follow standard blood collection protocols
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for COG7 gene mutations can aid in timely management and family counseling for glycosylation disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or lipemic samples
- Improperly labeled samples
- Insufficient sample volume
Understanding Your Results
Positive for pathogenic variants
Confirms diagnosis of COG7 glycosylation disorder type 2E. Clinical correlation and genetic counseling recommended.
Negative for pathogenic variants
No mutations detected in COG7 gene. Consider other genetic or metabolic disorders if symptoms persist.
Variant of uncertain significance (VUS)
Genetic variant found but significance unclear. Further testing and family studies may be needed.
Consult a doctor if you or your child exhibit symptoms such as developmental delay, seizures, or recurrent infections, and consider genetic testing for diagnosis.
Limitations
- ⚠May not detect all possible genetic variants
- ⚠Results should be correlated with clinical presentation
- ⚠Genetic counseling is recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood collection, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Insufficient sample volume
- ●Degraded DNA
Compare With Similar Tests
| Test | COG7 Gene Glycosylation disorder type 2E NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing |
|---|---|---|---|
| Comparison | COG7 Gene Glycosylation disorder type 2E NGS Genetic Test |
Frequently Asked Questions
What is COG7 Gene Glycosylation Disorder Type 2E?
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