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COG1 Gene Glycosylation disorder type 2G NGS Genetic Test

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COG1 Gene Glycosylation disorder type 2G NGS Genetic Test

Short Name: COG1 CDG2G NGS

Also known as: CDG2G, COG1-CDG, 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 Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are available within 3 to 4 weeks.. Free home collection in 300+ cities across India.

Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic variants in the COG1 gene that cause Glycosylation Disorder Type 2G (CDG2G). This confirms the diagnosis, helps in genetic counseling, and guides clinical management.

Test Code
4114
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are available within 3 to 4 weeks.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Continue routine medications. A genetic counseling session is recommended to gather a three-generation family history.

Method: Blood draw or FTA card sample

Step 2

Laboratory Analysis

A small amount of blood will be collected by a phlebotomist. If using FTA card, a few drops of blood are applied.

Step 3

Report Delivery

You may resume normal activities immediately.

Timeline: Reports are available within 3 to 4 weeks.

Patient Instructions

1
Before the Test:No special preparation is required. Continue routine medications. A genetic counseling session is recommended to gather a three-generation family history.
2
During the Test:A small amount of blood will be collected by a phlebotomist. If using FTA card, a few drops of blood are applied.
3
After the Test:You may resume normal activities immediately.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the COG1 gene that cause Glycosylation Disorder Type 2G (CDG2G). This confirms the diagnosis, helps in genetic counseling, and guides clinical management.

How to Prepare

  • Blood sample: 5 ml in EDTA vacutainer
  • Alternatively, 3-5 drops on FTA card
  • DNA extraction from blood or buccal samples is accepted

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This test is recommended for patients with clinical features suggestive of a congenital disorder of glycosylation. Early genetic confirmation can guide management and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeNot specified
ContainerEDTA vacutainer or FTA card
Collection MethodBlood draw or FTA card sample

Sample Stability

Blood: 7 days at room temperature
Extracted DNA: 6 months at -20°C
FTA card: 1 year at room temperature
Sample Rejection Criteria:
  • Improper labeling
  • Heparinized plasma (not accepted)
  • Clotted blood sample
  • Using expired FTA card

Understanding Your Results

The result of this test is based on next-generation sequencing of the COG1 gene. The report includes a description of any detected variant, its classification, and its clinical correlation.
Positive: Pathogenic variant identified – confirms a molecular diagnosis of CDG2G.
Negative: No pathogenic variant identified – does not exclude CDG2G if clinical suspicion remains high.
VUS: A variant of uncertain significance is identified – genetic counseling is recommended to assess family segregation.
⚠️ When to Consult a Doctor:

If you have a positive result, consult a clinical geneticist or genetic counselor to discuss the implications, the need for family testing, and management recommendations.

Limitations

  • ⚠NGS cannot reliably detect large deletions, duplications, or repeat expansions without additional analysis.
  • ⚠Variants in genes other than COG1 associated with similar phenotype will not be identified by this targeted test.
  • ⚠The test does not assess for mitochondrial disorders.

Risks & Considerations

  • ●Pain/discomfort from blood draw
  • ●Bruising
  • ●No significant other physical risks

Interfering Factors

  • ●Contamination of sample with another person's DNA
  • ●Rare deep intronic variants not detected by standard NGS
  • ●Large structural rearrangements may not be identified without copy number analysis
  • ●Poor sample quality and quantity

Compare With Similar Tests

TestCOG1 Gene Glycosylation disorder type 2G NGS Genetic Test
ComparisonCOG1 Gene Glycosylation disorder type 2G NGS Genetic Test

Frequently Asked Questions

What is COG1 gene glycosylation disorder type 2G?
COG1 gene glycosylation disorder type 2G (CDG2G) is a rare inherited condition caused by mutations in the COG1 gene, leading to abnormal glycosylation of proteins. Symptoms include developmental delay, intellectual disability, seizures, and other multisystem issues.
What are the common symptoms of CDG2G?
Common symptoms include developmental delays, intellectual disability, seizures, failure to thrive, abnormal facial features, abnormal muscle tone, recurrent infections, and liver or coagulation abnormalities.
How is COG1 gene glycosylation disorder diagnosed?
Diagnosis involves clinical evaluation and genetic testing. NGS genetic testing can identify mutations in the COG1 gene and confirm the diagnosis.
What is the cost of COG1 gene NGS genetic test in India?
The cost is Rs 20,000, which includes genetic counseling and home sample collection in many cities.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across major cities in India.
What sample type is needed for this test?
The test can be performed on blood, extracted DNA, or one drop of blood applied on an FTA card.
How long does it take to get the report?
The test results are typically available within 3 to 4 weeks.
What does a negative result in this NGS test mean?
A negative result means that no pathogenic variants were identified in the COG1 gene. However, it does not completely rule out the disorder if clinical suspicion is very high.
Who should consider undergoing this genetic test?
Individuals with features suggestive of CDG2G, such as unexplained developmental delay, seizures, or failure to thrive, especially when a form of congenital disorder of glycosylation is suspected.
Is this type of genetic test covered by insurance?
Insurance coverage varies. It is advisable to check with your insurance provider. Many labs offer payment plans or financial assistance.
Are there any risks associated with the test?
The only physical risk is a minor discomfort from blood collection. No serious risks are associated with the test itself.
Can this test be used for prenatal diagnosis?
Prenatal testing is possible but requires pre- and post-test genetic counseling. Please discuss with your clinical geneticist for appropriate guidance.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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