Skip to main content
DNA Labs India

COG5 Gene Glycosylation disorder type 2I NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

COG5 Gene Glycosylation disorder type 2I NGS Genetic Test

Short Name: COG5 Glycosylation Disorder NGS Test

Also known as: Congenital Disorder of Glycosylation Type 2I, CDG Syndrome Type 2I

COG5 Gene Glycosylation disorder type 2I 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 TestPediatric🏠 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 diagnose COG5 Gene Glycosylation Disorder Type 2I by identifying mutations in the COG5 gene and related genes using Next-Generation Sequencing (NGS) technology, facilitating early intervention and genetic counseling.

Test Code
2056
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

Inform the healthcare provider about any medications, blood disorders, or previous genetic tests.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture from a vein in the arm or via a finger prick for FTA card collection.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball or bandage to prevent bleeding.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended before testing to discuss implications, benefits, and limitations.
2
During the Test:The sample undergoes DNA extraction and sequencing in the laboratory using NGS technology.
3
After the Test:Results are reviewed by geneticists and a report is generated for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose COG5 Gene Glycosylation Disorder Type 2I by identifying mutations in the COG5 gene and related genes using Next-Generation Sequencing (NGS) technology, facilitating early intervention and genetic counseling.

How to Prepare

  • Ensure proper patient identification
  • Use sterile collection equipment
  • Label the sample correctly with patient details
  • Follow standard phlebotomy procedures

Doctor's Notes

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

"This test is crucial for early diagnosis and management of COG5-related disorders in families, aiding in genetic counseling and care planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood samples in EDTA tubes: stable for 24 hours at room temperature
FTA cards: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate whether pathogenic mutations in the COG5 gene are detected, confirming a diagnosis of COG5 Gene Glycosylation Disorder Type 2I.
Positive result: Mutations detected, consistent with the disorder, requiring clinical correlation and genetic counseling
Negative result: No mutations found, but symptoms may warrant further testing or evaluation
Variant of uncertain significance (VUS): Further studies or family testing may be needed for clarification
⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as developmental delays, seizures, vision or hearing problems, or abnormal facial features are present, especially in children.

Limitations

  • ⚠May not detect all genetic variants or mutations
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have implications for family members and future generations

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as slight pain or bruising
  • ●Potential psychological impact of test results on patients and families

Compare With Similar Tests

TestCOG5 Gene Glycosylation disorder type 2I NGS Genetic TestBiochemical TestingWhole Exome Sequencing
ComparisonCOG5 Gene Glycosylation disorder type 2I NGS Genetic Test

Frequently Asked Questions

What is COG5 Gene Glycosylation Disorder Type 2I?
It is a rare genetic disorder affecting glycosylation, caused by mutations in the COG5 gene, leading to symptoms like intellectual disability and seizures.
What are the common symptoms of this disorder?
Symptoms include intellectual disability, delayed development, seizures, vision problems, hearing loss, and abnormal facial features.
How is COG5 Gene Glycosylation Disorder diagnosed?
Diagnosis involves clinical evaluation, genetic testing via NGS, and biochemical tests to detect glycosylation abnormalities.
What is NGS Genetic Testing?
Next-Generation Sequencing (NGS) is a technology that sequences multiple genes simultaneously, allowing for accurate detection of genetic mutations.
What is the cost of the COG5 NGS Genetic Test at DNA Labs India?
The test costs INR 20000, which includes sequencing, analysis, and interpretation of results.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to receive the test results?
Results are typically delivered within 3 to 4 weeks after sample collection.
What do the test results mean?
Positive results confirm mutations in the COG5 gene, while negative results may require further evaluation. Genetic counseling is recommended for interpretation.
Is this genetic test covered by insurance?
Coverage depends on insurance plans; it is advisable to check with your provider. DNA Labs India does not guarantee insurance coverage.
Who should consider getting this test?
Individuals with symptoms of glycosylation disorders, such as developmental delays or seizures, or those with a family history of the condition.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, like slight discomfort, but genetic results may have emotional implications for families.
What are the treatment options after diagnosis?
Treatment focuses on managing symptoms through therapies, medications, and supportive care. Genetic counseling is essential for family planning and support.
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.

Related Tests

Amino Acids Qualitative Urine & Plasma Test

₹3,000

Galactose Quantitative Plasma Test

₹1,872

Galactosemia Panel 3 Test

₹4,563

Galactosemia Panel 1 Test

₹2,867

Canavan Disease Test

₹4,500

Galactose-1-Phosphate Quantitative Blood Test

₹1,989
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.