ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency NGS Genetic Test
Short Name: ST6GAL2 Gene NGS Genetic Test
Also known as: ST6GAL2 Deficiency, Beta-Galactosamide alpha-2,6-Sialyltransferase 2 Deficiency
ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency by identifying pathogenic mutations in the ST6GAL2 gene using Next-Generation Sequencing (NGS) technology. It aids in confirming clinical suspicion, guiding treatment strategies, and informing family planning decisions.
- Test Code
- 4640
- 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
- NGS Technology
Sample Collection
Provide detailed clinical history of the patient, including symptoms and family history. A genetic counseling session is recommended to draw a pedigree chart of family members affected with Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency.
Method: Venipuncture or FTA Card
Laboratory Analysis
Sample collection involves a standard blood draw or using an FTA card for a drop of blood. The procedure is minimally invasive and performed by trained phlebotomists.
Report Delivery
Store the sample at ambient room temperature and transport to the laboratory promptly. Follow any specific instructions provided by the lab.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency by identifying pathogenic mutations in the ST6GAL2 gene using Next-Generation Sequencing (NGS) technology. It aids in confirming clinical suspicion, guiding treatment strategies, and informing family planning decisions.
How to Prepare
- Provide complete clinical history and family pedigree
- Ensure genetic counseling session is scheduled if needed
- Use appropriate sample type: blood, extracted DNA, or FTA card
- Label samples correctly with patient details
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic testing for ST6GAL2 deficiency can guide management and family planning, especially for families with a history of developmental disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or contaminated samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
No pathogenic variants detected
Normal result; does not rule out other genetic causes if symptoms persist
Pathogenic or likely pathogenic variants identified
Confirms diagnosis of ST6GAL2 deficiency; genetic counseling recommended for management and family planning
Variant of uncertain significance (VUS)
Further testing or family studies may be needed; clinical correlation advised
Consult a doctor if an individual exhibits symptoms such as developmental delays, speech difficulties, motor coordination issues, seizures, or other neurological problems, especially with a family history of similar disorders.
Limitations
- ⚠May not detect all genetic variants, such as large deletions or duplications
- ⚠Results require correlation with clinical findings and family history
- ⚠Genetic counseling is recommended for interpretation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Potential emotional impact from genetic results; genetic counseling recommended
Interfering Factors
- ●Sample contamination
- ●Technical errors during sequencing
- ●Insufficient DNA quality
Frequently Asked Questions
What is ST6GAL2 Gene Beta-Galactosamide alpha-2,6-Sialyltransferase 2 deficiency?
What are the common symptoms of this deficiency?
How is ST6GAL2 deficiency diagnosed?
What is the cost of the NGS Genetic Test for ST6GAL2 deficiency?
Is genetic testing covered by insurance?
What sample types are accepted for this test?
How long does it take to get results?
Can this test identify carriers of the gene mutation?
What should I do before getting tested?
Are there any risks associated with the test?
What if the test result is a variant of uncertain significance?
Does DNA Labs India provide raw data with the report?
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