COG8 Gene Glycosylation disorder type 2H NGS Genetic Test
Short Name: COG8 NGS Genetic Test
Also known as: COG8 Gene Glycosylation Disorder Type 2H NGS Genetic Test, COG8 NGS Test, Congenital Disorder of Glycosylation Type IIH Genetic Test
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 Reports are generally delivered in 3 to 4 weeks from the date the sample is received in the laboratory.. 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 this test is to detect mutations in the COG8 gene using next-generation sequencing to confirm or rule out glycosylation disorder type 2H.
- Test Code
- 4122
- CPT Code
- N/A
- ICD Code
- E77.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered in 3 to 4 weeks from the date the sample is received in the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting or special preparation is required. However, a genetic counselling session and clinical history with pedigree chart are recommended before the test.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
A blood sample is collected by a trained phlebotomist. For FTA card collection, one drop of blood is placed on the card and allowed to dry.
Report Delivery
You can resume normal activities immediately. If blood was drawn, keep pressure over the puncture site for a few minutes.
Timeline: Reports are generally delivered in 3 to 4 weeks from the date the sample is received in the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the COG8 gene using next-generation sequencing to confirm or rule out glycosylation disorder type 2H.
How to Prepare
- No fasting required.
- Give 2-3 mL whole blood in an EDTA tube.
- For FTA card, apply one drop of blood and let it dry.
- If providing extracted DNA, ensure quantity and quality meet laboratory requirements.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A genetic diagnosis is essential for accurate recurrence risk counselling and long-term management planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient sample quantity
- Improperly labeled sample
- Contaminated FTA card
Understanding Your Results
Pathogenic variant detected
Supports a diagnosis of COG8 glycosylation disorder type 2H. Genetic counselling is strongly recommended.
Likely pathogenic variant detected
Highly suggestive of the disorder. Clinical correlation and additional family testing may be useful.
Variant of uncertain significance (VUS)
Cannot be classified as disease-causing at present. Additional family studies or further evaluation may be needed.
No pathogenic variant detected
Reduces the likelihood of COG8-related disorder but does not completely rule it out if clinical suspicion remains high.
If the test identifies a pathogenic or likely pathogenic variant, or if a variant of uncertain significance is reported, please consult a clinical geneticist or neurologist for genetic counselling and management planning.
Limitations
- ⚠NGS may not detect all large deletions, duplications, or deep intronic variants
- ⚠A variant of uncertain significance may require additional family testing
- ⚠A negative result does not completely exclude the disorder if clinical suspicion is high
Risks & Considerations
- ●Minimal risk of bruising at the puncture site
- ●Minor discomfort during blood collection
- ●Rare possibility of infection or excessive bleeding
Interfering Factors
- ●Recent blood transfusion may cause mixed DNA results
- ●Bone marrow transplant can affect genetic testing results
- ●Poor quality or degraded DNA may reduce assay sensitivity
Compare With Similar Tests
| Test | COG8 Gene Glycosylation disorder type 2H NGS Genetic Test | COG8 NGS Genetic Test | Whole Exome Sequencing | Targeted CDG Panel |
|---|---|---|---|---|
| Comparison | COG8 Gene Glycosylation disorder type 2H NGS Genetic Test |
Frequently Asked Questions
What is the COG8 gene glycosylation disorder type 2H NGS genetic test?
What is the cost of this test?
What sample is required for this test?
Is fasting required before the test?
How long will the reports take?
Is home sample collection available?
What does next-generation sequencing mean?
How accurate is this NGS genetic test?
Do I need genetic counselling before the test?
Can this test be done for children and adults?
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