COG7 Gene Glycosylation disorder type 2E NGS Genetic Test
Short Name: COG7-CDG NGS
Also known as: COG7-CDG genetic test, Congenital Disorder of Glycosylation type 2E NGS test, COG7 gene mutation analysis
COG7 Gene Glycosylation disorder type 2E 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 issued within 3 to 4 weeks after the sample reaches 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 3, 2026
Overview
The purpose of this NGS genetic test is to identify a disease-causing variant in the COG7 gene in individuals with features suggestive of congenital disorder of glycosylation type 2E. A molecular diagnosis can help confirm the clinical suspicion, guide management, and provide accurate recurrence-risk information for families.
- Test Code
- 4113
- 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 issued within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
A genetic counselling session to draw a pedigree chart of family members affected with COG7 gene glycosylation disorder is recommended. No fasting is required. Home sample collection is available for online bookings in selected cities.
Method: Peripheral blood draw or FTA blood spot
Laboratory Analysis
A small blood sample is collected by a trained phlebotomist. If using an FTA card, a few drops of blood are placed on the card. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. The sample is transported to the laboratory for DNA extraction and next-generation sequencing. Reports are shared in 3-4 weeks.
Timeline: Reports are generally issued within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify a disease-causing variant in the COG7 gene in individuals with features suggestive of congenital disorder of glycosylation type 2E. A molecular diagnosis can help confirm the clinical suspicion, guide management, and provide accurate recurrence-risk information for families.
How to Prepare
- No fasting is required.
- Wear comfortable clothing with loose sleeves for blood collection.
- Carry a valid government ID and the lab requisition form.
- For FTA card collection, ensure the card is air-dried before packaging.
- Complete family pedigree information helps the genetics team interpret the result.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"A confirmed molecular diagnosis enables accurate recurrence-risk counselling and informs long-term surveillance for parents and at-risk family members."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood in EDTA tube
- Insufficient sample volume
- Improperly labelled sample
- Leaking or expired FTA card
- Severely degraded DNA
Understanding Your Results
Positive
A pathogenic or likely pathogenic variant in the COG7 gene was detected. This is consistent with a molecular diagnosis of COG7-CDG.
Negative
No pathogenic or likely pathogenic variant was detected in COG7. This does not rule out all forms of CDG or non-genetic causes.
Variant of uncertain significance (VUS)
A genetic variant was found, but its effect on protein function is not yet clear. Additional family studies or functional tests may be recommended.
Carrier
One heterozygous variant was detected. In autosomal recessive COG7-CDG, carriers are typically unaffected but may have an increased risk of passing the variant to offspring.
Consult a doctor or clinical geneticist if you have persistent developmental delay, seizures, unusual facial or skeletal features, liver abnormalities, or any clinical suspicion of a congenital disorder of glycosylation. Genetic counselling is recommended before and after testing.
Limitations
- ⚠NGS may not reliably detect all types of mutations such as large insertions, deletions, duplications, deep intronic variants, or complex rearrangements.
- ⚠A negative result does not completely exclude COG7-CDG if the causative variant is outside the regions analysed.
- ⚠Variants of uncertain significance may require additional family studies and functional evidence.
- ⚠Test results should be interpreted in the context of clinical findings by a qualified geneticist.
Risks & Considerations
- ●Minor pain or bruising at the blood draw site
- ●Dizziness or lightheadedness during blood collection
- ●Very small risk of infection is rare with sterile technique
Interfering Factors
- ●Degraded or low-quality DNA can reduce sequencing performance.
- ●Maternal cell contamination may interfere with variant interpretation.
- ●Heavily haemolysed or clotted blood may yield poor DNA.
- ●Recent blood transfusion can cause mixed cell populations.
- ●Individual gene NGS may not detect deep intronic or large structural rearrangements.
Compare With Similar Tests
| Test | COG7 Gene Glycosylation disorder type 2E NGS Genetic Test | Serum Transferrin Isoelectric Focusing (TIEF) | Comprehensive CDG NGS Panel | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) |
|---|---|---|---|---|---|
| Comparison | COG7 Gene Glycosylation disorder type 2E NGS Genetic Test |
Frequently Asked Questions
What is the cost of the COG7 gene glycosylation disorder type 2E NGS genetic test in India?
What sample is needed for the COG7 NGS genetic test?
Is fasting required before this genetic test?
How long will the COG7 NGS genetic test report take?
What is COG7 gene glycosylation disorder type 2E?
Who should consider taking this test?
How is the COG7 gene tested?
Can this test confirm a diagnosis of COG7-CDG?
Can this test detect all types of COG7 variants?
Is home sample collection available for this test?
Will insurance cover this genetic test?
Do I need genetic counselling before this test?
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