Skip to main content
DNA Labs India

MGAT2 Gene Glycosylation disorde type 2A NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

MGAT2 Gene Glycosylation disorde type 2A NGS Genetic Test

Short Name: MGAT2 NGS Genetic Test

Also known as: MGAT2 Gene Glycosylation Disorder Type 2A NGS Genetic Test, CDG Type 2A Genetic Test

MGAT2 Gene Glycosylation disorde type 2A 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 usually available in 3-4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 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

To detect pathogenic variants in the MGAT2 gene that cause Congenital Disorder of Glycosylation Type 2A (CDG-IIa), supporting diagnosis, management, and genetic counselling.

Test Code
4104
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually available in 3-4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

A clinical history of the patient and a genetic counselling session to draw a pedigree chart of family members affected with MGAT2 Gene Glycosylation Disorder Type 2A are required. Before getting tested, ask for Raw Data, FASTQ, and VCF files along with the clinical test report from DNA Labs India.

Method: Venipuncture / Blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood in an EDTA tube or a blood spot on an FTA card. The procedure takes just a few minutes.

Step 3

Report Delivery

No special precautions are required after sample collection. The sample is transported to the laboratory in a temperature-controlled manner.

Timeline: Reports are usually available in 3-4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:Patients should have a physician's referral. A pre-test genetic counselling session is recommended.
2
During the Test:The test uses Next-Generation Sequencing of the MGAT2 gene. No sedation is required.
3
After the Test:The report will be shared through secure channels. A post-test genetic counselling session will be arranged.

About This Test

Who Should Get This Test

To detect pathogenic variants in the MGAT2 gene that cause Congenital Disorder of Glycosylation Type 2A (CDG-IIa), supporting diagnosis, management, and genetic counselling.

How to Prepare

  • For home collection, the phlebotomist will visit at your preferred time.
  • If you are providing extracted DNA, store at -20°C until shipment.

Doctor's Notes

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

"Genetic confirmation of MGAT2 glycosylation disorder is crucial for accurate recurrence-risk counselling and early family planning decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory protocol
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodVenipuncture / Blood spot on FTA card

Sample Stability

Whole blood (EDTA): 2-8°C for up to 72 hours
Extracted DNA: Stable at -20°C
FTA card: Stable at room temperature
Sample Rejection Criteria:
  • Clotted or hemolysed blood sample
  • Incorrectly labelled sample
  • Sample in improper container

Understanding Your Results

The clinical report should be interpreted by a qualified clinical geneticist or genetic counselor in the context of the patient's symptoms, family history, and other laboratory findings. Variants are classified according to ACMG guidelines.
Pathogenic variant detected: Confirms the diagnosis of MGAT2-CDG; refer to a metabolic geneticist.
Likely pathogenic variant detected: Strongly suggests disease; clinical correlation required.
Variant of uncertain significance (VUS): Additional segregation or functional studies may be needed.
No pathogenic variant detected: Genetic cause not identified; additional testing may be considered.
⚠️ When to Consult a Doctor:

Consult a clinical geneticist, pediatrician, or neurologist if the patient has unexplained failure to thrive, developmental delay, seizures, or features suggestive of a congenital disorder of glycosylation.

Limitations

  • ⚠This test is designed to detect small nucleotide variants and indels in the coding region of the MGAT2 gene. Large structural rearrangements may not be detected.
  • ⚠A negative result does not entirely exclude the possibility of MGAT2-CDG.

Risks & Considerations

  • ●Bruising or bleeding at blood draw site
  • ●Stress or anxiety related to receiving genetic results

Interfering Factors

  • ●Low DNA quality may reduce sequencing sensitivity
  • ●Variants outside the coding and splice-site regions may not be detected
  • ●Clinical correlation required for variants of uncertain significance

Frequently Asked Questions

What is MGAT2 gene glycosylation disorder type 2A?
It is a rare inherited condition caused by mutations in the MGAT2 gene, leading to defective protein glycosylation and multi-organ problems.
What are the symptoms of MGAT2 glycosylation disorder type 2A?
Symptoms can include failure to thrive, developmental delay, intellectual disability, seizures, structural brain abnormalities, skeletal malformations, and eye anomalies.
How is the MGAT2 NGS genetic test performed?
The test uses next-generation sequencing to analyze the MGAT2 gene for pathogenic variants. It is performed on blood, extracted DNA, or FTA card blood spots.
What is the cost of the MGAT2 gene NGS genetic test at DNA Labs India?
The test costs INR 20,000, which includes genetic testing, analysis, and a genetic counselling session.
Do I need to fast before the test?
No, fasting is not required for this genetic test.
What sample type is accepted for this test?
Blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used.
How long will I have to wait for the report?
The clinical report is generally available within 3 to 4 weeks after the sample reaches the laboratory.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
Who should order this test?
It is recommended for individuals with clinical suspicion of MGAT2-CDG, particularly those with a neurological phenotype, and for family members during genetic counselling.
What will the test result tell me?
The result can confirm or rule out a pathogenic variant in the MGAT2 gene. It will also classify identified variants according to ACMG guidelines.
Can a negative result completely exclude the disease?
No, a negative result does not completely exclude MGAT2-CDG because not all types of mutations may be detected by this NGS test.
How can I book this test?
You can book online through the DNA Labs India website. The discounted price is INR 20,000 and home sample collection is available.
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

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.