MGAT2 Gene Glycosylation disorder type 2A NGS Genetic Test
Short Name: MGAT2 Gene CDG Type 2A NGS Test
Also known as: CDG Type 2A Genetic Test, MGAT2 Mutation Analysis, Congenital Disorder of Glycosylation IIa NGS Test, Mannosyl-Glycoprotein N-Acetylglucosaminyltransferase 2 Gene Test
MGAT2 Gene Glycosylation disorder type 2A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation (if applicable), Bioinformatics Variant Analysis on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Digital reports are delivered via Online Portal, Email, and WhatsApp. Urgent processing may be available upon request – please contact DNA Labs India for details.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the MGAT2 Gene Glycosylation Disorder Type 2A NGS Genetic Test is to identify pathogenic mutations in the MGAT2 gene to confirm a diagnosis of CDG-2A, guide clinical management, enable accurate genetic counseling regarding inheritance patterns and recurrence risks, facilitate carrier detection in family members, and support informed family planning decisions including prenatal or preimplantation genetic diagnosis.
- Test Code
- 2054
- CPT Code
- 81479
- ICD Code
- E77.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Digital reports are delivered via Online Portal, Email, and WhatsApp. Urgent processing may be available upon request – please contact DNA Labs India for details.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger Confirmation (if applicable), Bioinformatics Variant Analysis
Sample Collection
A pre-test genetic counseling session is mandatory to document clinical history, obtain informed consent, and prepare a pedigree chart of family members affected with Glycosylation Disorder Type 2A or related conditions. No fasting is required. Patients should inform the collection team about any recent blood transfusions or anticoagulant therapy.
Method: Venipuncture / Heel Prick (neonates) / FTA Card Spot
Laboratory Analysis
A venous blood sample of approximately 3-5 mL will be collected in an EDTA (lavender top) vacutainer by a trained phlebotomist. For neonates, a heel prick blood spot on an FTA card may be used. The collection procedure is minimally invasive and takes approximately 5-10 minutes. Alternatively, previously extracted DNA from a certified laboratory may be submitted.
Report Delivery
The sample is labeled, stored at ambient room temperature, and transported to the DNA Labs India testing facility under standardized conditions. Reports are typically available within 3 to 4 weeks. A post-test genetic counseling session will be scheduled to discuss the findings, their clinical significance, recurrence risks, and management options.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory. Digital reports are delivered via Online Portal, Email, and WhatsApp. Urgent processing may be available upon request – please contact DNA Labs India for details.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MGAT2 Gene Glycosylation Disorder Type 2A NGS Genetic Test is to identify pathogenic mutations in the MGAT2 gene to confirm a diagnosis of CDG-2A, guide clinical management, enable accurate genetic counseling regarding inheritance patterns and recurrence risks, facilitate carrier detection in family members, and support informed family planning decisions including prenatal or preimplantation genetic diagnosis.
How to Prepare
- Collect blood in an EDTA (lavender top) vacutainer; heparin tubes are not acceptable for NGS testing
- Ensure proper labeling of the sample with patient name, date of birth, and unique sample ID
- Store the sample at ambient room temperature (15-30°C); do not freeze or refrigerate
- Transport the sample to the laboratory within 48 hours of collection
- If using an FTA card, ensure the blood spot is completely dry before packaging
- Submit the completed requisition form along with signed informed consent and clinical history
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"MGAT2 Gene Glycosylation Disorder Type 2A is a rare congenital disorder of glycosylation (CDG) that can present with multisystem involvement including neurological, hepatic, and gastrointestinal abnormalities. Early genetic confirmation through NGS-based testing is essential for initiating supportive therapies, guiding family planning decisions, and enabling access to disease-specific management strategies. I recommend this test for any infant or child presenting with unexplained developmental delay, hypotonia, or failure to thrive, particularly when a metabolic etiology is suspected. A detailed three-generation pedigree analysis and genetic counseling session should accompany the testing process."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparin anticoagulant tube
- Hemolyzed, clotted, or severely lipemic samples
- Insufficient sample volume (less than 1 mL for blood)
- Samples without proper labeling or requisition form
- Samples received more than 72 hours post-collection without prior arrangement
- Sample contaminated or leaking during transport
Understanding Your Results
Pathogenic variant(s) detected
Confirms the molecular diagnosis of CDG-2A. One or two pathogenic or likely pathogenic variants were identified in the MGAT2 gene. In an autosomal recessive condition, biallelic (homozygous or compound heterozygous) pathogenic variants confirm the diagnosis. Genetic counseling, family screening, and discussion of management options are recommended.
Likely Pathogenic variant(s) detected
Strongly supports the diagnosis of CDG-2A. Variants classified as likely pathogenic have a high probability of being disease-causing. Correlation with clinical features and biochemical findings is advised. Family studies may help confirm segregation with the phenotype.
Variant of Uncertain Significance (VUS) detected
A variant was identified whose clinical significance cannot be determined with available evidence at this time. This result is non-diagnostic. Additional testing of parents and affected/unaffected family members may help clarify the variant's role. Clinical correlation and periodic reanalysis are recommended as new evidence may emerge.
No pathogenic variants detected
No pathogenic or likely pathogenic variants were identified in the MGAT2 gene coding regions and flanking intronic sequences. This result does not completely exclude CDG-2A, as large deletions/duplications, deep intronic, or regulatory variants may not be detected by this method. If clinical suspicion remains high, additional testing (e.g., whole exome sequencing, biochemical studies) should be considered in consultation with a geneticist.
Carrier status (heterozygous)
A single pathogenic or likely pathogenic variant was identified in the MGAT2 gene, consistent with carrier status for CDG-2A. Carriers are typically asymptomatic but have a 50% chance of passing the variant to offspring. Reproductive counseling and partner testing are recommended for family planning.
Consult a clinical geneticist or your referring physician if the test returns positive for pathogenic variants, if a VUS is detected, or if results are negative but clinical symptoms persist. Early specialist involvement is critical for initiating supportive therapies, coordinating multidisciplinary care, arranging family screening, and discussing reproductive implications and prenatal testing options.
Limitations
- ⚠This test targets only the MGAT2 gene and does not detect mutations in other CDG-related genes
- ⚠Large copy number variants (CNVs), deep intronic mutations, and regulatory region variants may not be detected by standard NGS sequencing
- ⚠Variants of uncertain significance (VUS) may be identified and cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠This test does not detect epigenetic modifications or mitochondrial DNA variants
- ⚠A negative result does not completely exclude the clinical diagnosis of CDG as other genetic or non-genetic causes may exist
- ⚠Mosaicism below the detection threshold of the assay may not be identified
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site, which typically resolves within a few hours
- ●Small risk of infection at the needle insertion site (standard aseptic techniques are followed)
- ●Psychological impact of receiving genetic test results, particularly if pathogenic variants or carrier status is identified
- ●Risk of identifying variants of uncertain significance (VUS) which may cause anxiety without providing a definitive diagnosis
Interfering Factors
- ●Degraded or insufficient DNA quality from the submitted sample may affect sequencing accuracy
- ●Blood sample collected in incorrect anticoagulant (e.g., heparin instead of EDTA) can interfere with NGS library preparation
- ●Recent blood transfusion within the past 4 weeks may lead to mixed DNA profiles
- ●Hemolyzed or clotted blood samples may be rejected or produce suboptimal results
Compare With Similar Tests
| Test | MGAT2 Gene Glycosylation disorder type 2A NGS Genetic Test | Congenital Disorders of Glycosylation (CDG) Gene Panel | Transferrin Isoelectric Focusing (TIEF) | Whole Exome Sequencing (WES) | Sanger Sequencing of MGAT2 Gene |
|---|---|---|---|---|---|
| Comparison | MGAT2 Gene Glycosylation disorder type 2A NGS Genetic Test |
Frequently Asked Questions
What is MGAT2 Gene Glycosylation Disorder Type 2A?
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