COG1 Gene Glycosylation disorder type 2G NGS Genetic Test
Short Name: COG1 Glycosylation Disorder Type 2G Test
Also known as: COG1-CDG Type 2G, Congenital Disorder of Glycosylation Type 2G
COG1 Gene Glycosylation disorder type 2G 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
To identify mutations in the COG1 gene for diagnosing Glycosylation Disorder Type 2G, guiding treatment and management decisions.
- Test Code
- 4691
- 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
Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with Glycosylation disorder type 2G.
Method: Venipuncture or DNA extraction
Laboratory Analysis
Standard blood draw or DNA extraction procedure performed by a trained phlebotomist.
Report Delivery
Apply pressure to the puncture site to prevent bleeding; keep the area clean.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the COG1 gene for diagnosing Glycosylation Disorder Type 2G, guiding treatment and management decisions.
How to Prepare
- Ensure proper sample labeling
- Avoid hemolysis during blood collection
- Use appropriate collection tubes as specified
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early diagnosis through genetic testing is essential for managing symptoms and providing appropriate care for patients with COG1 Gene Glycosylation Disorder Type 2G."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
- Hemolyzed sample
- Insufficient sample volume
- Improperly labeled samples
Understanding Your Results
Positive
Pathogenic variant detected, confirming diagnosis of COG1 Gene Glycosylation Disorder Type 2G. Genetic counseling recommended.
Negative
No pathogenic variants detected, but clinical correlation is needed as symptoms may be due to other causes.
Variant of Uncertain Significance
Genetic variant identified but significance unclear; further testing and monitoring may be required.
If symptoms such as developmental delays, seizures, or recurrent infections persist, or for genetic counseling and family planning.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Compare With Similar Tests
| Test | COG1 Gene Glycosylation disorder type 2G NGS Genetic Test | Whole Exome Sequencing | Congenital Disorder of Glycosylation Panel |
|---|---|---|---|
| Comparison | COG1 Gene Glycosylation disorder type 2G NGS Genetic Test |
Frequently Asked Questions
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