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COG6 Gene Glycosylation disorder type 3 NGS Genetic Test

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COG6 Gene Glycosylation disorder type 3 NGS Genetic Test

Short Name: COG6 CDG Type 3 Test

Also known as: COG6-CDG Type 3, Congenital Disorder of Glycosylation Type IIl

COG6 Gene Glycosylation disorder type 3 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.

NGS Genetic Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose mutations in the COG6 gene associated with Glycosylation Disorder Type 3, enabling confirmation of the condition and guiding clinical management.

Test Code
2055
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)
Step 1

Sample Collection

Genetic counseling session recommended to draw a pedigree chart and understand the test implications.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure using aseptic techniques; alternatively, saliva or FTA card sample collection.

Step 3

Report Delivery

Sample is labeled and transported to the laboratory under appropriate conditions for DNA extraction and analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Pre-test genetic counseling to discuss indications, benefits, and limitations.
2
During the Test:Non-invasive sample collection; minimal discomfort from blood draw.
3
After the Test:Post-test counseling to discuss results and next steps.

About This Test

Who Should Get This Test

To diagnose mutations in the COG6 gene associated with Glycosylation Disorder Type 3, enabling confirmation of the condition and guiding clinical management.

How to Prepare

  • No fasting required
  • Use EDTA tube for blood samples
  • Ensure proper labeling and documentation

Doctor's Notes

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

"Early genetic testing for COG6-related disorders can guide management and family planning, especially in cases with unexplained metabolic symptoms."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 ml blood
ContainerEDTA tube
Collection MethodVenipuncture

Sample Stability

Blood: Stable at 2-8°C for up to 24 hours; DNA extracts can be stored longer as per lab protocol
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improper labeling or documentation

Understanding Your Results

Results from the COG6 Gene Glycosylation Disorder Type 3 NGS Genetic Test indicate the presence or absence of pathogenic variants in the COG6 gene, which are associated with the disorder.
📊

Negative

No pathogenic variants detected; symptoms may be due to other genetic or environmental factors. Further clinical evaluation may be needed.

📊

Positive

Pathogenic variants detected; confirms diagnosis of COG6 Gene Glycosylation Disorder Type 3. Genetic counseling and management planning are recommended.

📊

Variant of uncertain significance

A variant was found but its clinical impact is unclear; repeat testing or family studies may be advised.

⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic counselor if symptoms suggestive of COG6-related disorder are present, or if there is a family history of metabolic disorders.

Limitations

  • May not detect all genetic variants or epigenetic changes
  • Results require clinical correlation and genetic counseling
  • Not suitable for prenatal diagnosis without additional validation

Risks & Considerations

  • Minimal risk from blood draw, such as bruising or infection
  • Psychological impact of test results may require support

Interfering Factors

  • Sample contamination
  • Degraded DNA quality
  • Insufficient sample volume

Frequently Asked Questions

What is COG6 Gene Glycosylation Disorder Type 3?
It is a rare genetic disorder caused by mutations in the COG6 gene, leading to improper sugar processing in the body and various symptoms like developmental delay and seizures.
What are the common symptoms of this disorder?
Symptoms include developmental delay, intellectual disability, seizures, abnormal muscle tone, abnormal facial features, failure to thrive, and gastrointestinal issues.
How is the COG6 Gene Glycosylation Disorder Type 3 NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze DNA from blood, saliva, or FTA card samples for mutations in the COG6 gene.
What is the cost of the test in India?
The test costs approximately INR 20,000, with free home sample collection available in many cities.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of pathogenic variants in the COG6 gene, confirming the diagnosis of the disorder and guiding further management.
Can this test be done at home?
Yes, free home sample collection is offered for online bookings across India in listed cities.
Who should consider getting this test?
Individuals with symptoms such as developmental delay, seizures, or unexplained metabolic issues, especially with a family history of similar conditions.
Is the test covered by insurance?
Coverage varies by insurance provider and policy; it is not universally covered. Check with your insurer for details.
What are the risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Psychological counseling may be needed due to potential emotional impact of results.
How should I prepare for genetic counseling before the test?
Prepare by gathering family medical history and understanding the test purpose; a genetic counselor will draw a pedigree chart to assess hereditary patterns.
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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