AMT Gene Glycine encephalopathy NGS Genetic Test
Short Name: AMT Gene Test
Also known as: Nonketotic Hyperglycinemia, AMT Deficiency
AMT Gene Glycine encephalopathy 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 3, 2026
Overview
The purpose of the AMT Gene Glycine Encephalopathy NGS Genetic Test is to identify mutations in the AMT gene responsible for glycine encephalopathy. This test confirms diagnosis, aids in differential diagnosis from other neurological disorders, supports genetic counselling for family planning, and helps in monitoring and management of the condition.
- Test Code
- 5403
- 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)
Sample Collection
Provide clinical history of the patient and undergo a genetic counselling session to draw a pedigree chart of family members affected with glycine encephalopathy.
Method: Venipuncture or Finger Prick
Laboratory Analysis
A blood sample is collected via venipuncture or a drop of blood on an FTA card. The procedure is minimally invasive and takes a few minutes.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Keep the area clean and dry. No specific post-collection care is required.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the AMT Gene Glycine Encephalopathy NGS Genetic Test is to identify mutations in the AMT gene responsible for glycine encephalopathy. This test confirms diagnosis, aids in differential diagnosis from other neurological disorders, supports genetic counselling for family planning, and helps in monitoring and management of the condition.
How to Prepare
- Ensure the patient is calm and hydrated before sample collection
- Use sterile equipment and follow aseptic techniques
- Label the sample correctly with patient details
- Transport the sample at ambient room temperature to the lab
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for glycine encephalopathy is crucial for timely intervention and family planning. This NGS test provides definitive diagnosis to guide management."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrectly labeled or unlabeled samples
Understanding Your Results
Positive for pathogenic AMT gene variants
Confirms diagnosis of glycine encephalopathy. Genetic counselling and management strategies should be initiated.
Negative for pathogenic variants
AMT gene mutations not detected. Consider other genetic or metabolic causes if symptoms persist.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to determine clinical relevance.
Consult a doctor if an infant or child shows symptoms such as seizures, poor feeding, developmental delays, or low muscle tone. Also, seek medical advice if there is a family history of glycine encephalopathy.
Limitations
- ⚠May not detect all types of genetic variants, such as large structural changes
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not assess for other causes of encephalopathy beyond AMT gene mutations
Risks & Considerations
- ●Minimal risk of bruising or infection at the puncture site
- ●Emotional impact of genetic results on the family
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions affecting DNA integrity
- ●Improper sample storage or handling
Frequently Asked Questions
What is AMT Gene Glycine Encephalopathy?
Who should get this genetic test?
How is the test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
What sample types are accepted?
Can the test be done at home?
What do positive results mean?
Is genetic counselling included?
Are there any risks associated with the test?
How accurate is the NGS genetic test?
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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.
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.
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