GNMT Gene Glycine N-methyltransferase deficiency NGS Genetic Test
Short Name: GNMT Gene Test
Also known as: Glycine N-methyltransferase deficiency, GNMT deficiency
GNMT Gene Glycine N-methyltransferase 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose Glycine N-methyltransferase deficiency by detecting mutations in the GNMT gene using next-generation sequencing technology.
- Test Code
- 5405
- 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
Clinical history and genetic counseling session required.
Method: Blood draw or saliva collection
Laboratory Analysis
Blood or saliva sample collected by trained professional.
Report Delivery
Sample sent to laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Glycine N-methyltransferase deficiency by detecting mutations in the GNMT gene using next-generation sequencing technology.
How to Prepare
- Provide detailed clinical history
- Attend pre-test genetic counseling session
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of GNMT deficiency, which can prevent severe complications such as liver disease and developmental issues."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient sample volume
Understanding Your Results
Positive
Pathogenic variant detected, indicating GNMT deficiency. Consult a geneticist for management.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation recommended.
If symptoms such as developmental delay, liver issues, or seizures are present, or if there is a family history of GNMT deficiency.
Limitations
- ⚠May not detect all mutations
- ⚠Requires genetic counseling for interpretation
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising)
- ●Psychological impact of test results
Interfering Factors
- ●Poor sample quality
- ●Contamination
Frequently Asked Questions
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