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COG4 Gene Glycosylation disorder type 2J NGS Genetic Test

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COG4 Gene Glycosylation disorder type 2J NGS Genetic Test

Short Name: COG4 Gene Test

Also known as: COG4-CDG, Congenital Disorder of Glycosylation Type IIj

COG4 Gene Glycosylation disorder type 2J 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

✍️ 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 detect mutations in the COG4 gene associated with Glycosylation Disorder Type 2J, enabling accurate diagnosis, informed medical management, and genetic counselling for patients and their families.

Test Code
2059
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

Clinical history of the patient and a genetic counselling session to draw a pedigree chart of family members affected with Glycosylation Disorder Type 2J.

Method: Venipuncture for blood sample

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or using FTA card for one drop blood.

Step 3

Report Delivery

Sample labeled and transported to the laboratory under appropriate conditions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counselling is recommended to understand the implications of testing.
2
During the Test:Non-invasive blood sample collection.
3
After the Test:Results available in 3-4 weeks; genetic counselling provided with report.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the COG4 gene associated with Glycosylation Disorder Type 2J, enabling accurate diagnosis, informed medical management, and genetic counselling for patients and their families.

How to Prepare

  • Ensure patient identification is accurate
  • Use sterile technique for blood draw
  • Store sample as per guidelines

Doctor's Notes

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

"Early diagnosis through genetic testing is essential for managing COG4-CDG and providing appropriate care for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood sample

Sample Stability

Blood: 2-8°C for up to 24 hours
FTA card: Room temperature for extended storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Sample hemolysis
  • Improper labeling

Understanding Your Results

Results are interpreted based on the detection of mutations in the COG4 gene. Positive results indicate the presence of pathogenic variants, while negative results suggest no variants associated with the disorder.
Positive: Pathogenic mutation(s) detected, confirming diagnosis
Negative: No pathogenic mutations detected, but clinical symptoms may warrant further testing
Variant of Uncertain Significance (VUS): Genetic variant identified but clinical significance unclear
⚠️ When to Consult a Doctor:

Consult a genetic specialist or metabolic disorder expert if symptoms of COG4-CDG are present, or for interpretation of test results and management options.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions)
  • ⚠Requires clinical correlation
  • ⚠Genetic counselling recommended before and after testing

Risks & Considerations

  • ●Minimal risk from blood draw (bruising, infection)
  • ●No significant risks associated with genetic testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestCOG4 Gene Glycosylation disorder type 2J NGS Genetic TestSanger SequencingWhole Exome Sequencing
ComparisonCOG4 Gene Glycosylation disorder type 2J NGS Genetic Test

Frequently Asked Questions

What is COG4 Gene Glycosylation Disorder Type 2J?
It is a rare genetic disorder caused by mutations in the COG4 gene, affecting protein glycosylation and leading to symptoms like developmental delay and seizures.
What are the symptoms of this disorder?
Common symptoms include developmental delay, intellectual disability, seizures, abnormal facial features, failure to thrive, difficulty feeding, and recurrent infections.
How is this disorder diagnosed?
Diagnosis is primarily through genetic testing using Next-Generation Sequencing (NGS) to identify mutations in the COG4 gene, along with clinical evaluation.
What is the cost of the test in India?
The cost of the COG4 Gene Glycosylation Disorder Type 2J NGS Genetic Test at DNA Labs India is INR 20,000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across major cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive result mean?
A positive result indicates the presence of pathogenic mutations in the COG4 gene, confirming the diagnosis of Glycosylation Disorder Type 2J.
What if the result is negative but symptoms persist?
A negative result means no pathogenic mutations were detected, but clinical symptoms may require further testing or evaluation by a specialist.
Is genetic counselling provided?
Yes, genetic counselling is included as part of the test process to help understand results and implications.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis; prenatal testing may require specific protocols and consultation with a genetic specialist.
What are the treatment options for this disorder?
Treatment focuses on managing symptoms, such as developmental support, seizure control, and nutritional care, under the guidance of healthcare providers.
Is the test covered by insurance?
Coverage depends on the insurance provider and policy; patients should verify with their insurer. DNA Labs India offers competitive pricing.
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

Reference Laboratory Services

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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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