COG8 Gene Glycosylation disorder type 2H NGS Genetic Test
Also known as: Congenital Disorder of Glycosylation Type 2H, CDG Type 2H
COG8 Gene Glycosylation disorder type 2H NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
To identify pathogenic variants in the COG8 gene responsible for Glycosylation Disorder Type 2H, enabling accurate diagnosis and personalized medical management.
- Test Code
- 4692
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
Patient should provide detailed clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
A small blood sample is collected via venipuncture.
Report Delivery
Sample is labeled and sent to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To identify pathogenic variants in the COG8 gene responsible for Glycosylation Disorder Type 2H, enabling accurate diagnosis and personalized medical management.
How to Prepare
- No fasting required
- Ensure proper sample labeling
- Provide consent for genetic testing
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"This NGS test is essential for identifying mutations in the COG8 gene, aiding in early diagnosis and management of glycosylation disorders."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improperly labeled sample
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of COG8 Gene Glycosylation Disorder Type 2H. Genetic counseling recommended.
Negative
No pathogenic variants detected. Clinical symptoms may be due to other causes.
Variant of uncertain significance
Further testing or family studies may be required.
Consult a geneticist or healthcare provider if symptoms suggestive of glycosylation disorders are present, or for family planning advice.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires clinical correlation for diagnosis
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
Interfering Factors
- ●Degraded DNA sample
- ●Contamination during collection
Frequently Asked Questions
What is COG8 Gene Glycosylation Disorder Type 2H?
What are the common symptoms of this disorder?
How is the COG8 Gene Glycosylation Disorder Type 2H diagnosed?
What is the cost of the NGS Genetic Test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What does a positive test result mean?
Is genetic counseling required before the test?
Can this test be used for prenatal diagnosis?
What are the risks associated with the test?
Is the test covered by insurance schemes like PMJAY or CGHS?
How accurate is the NGS Genetic Test for this disorder?
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