AMT Gene Glycine encephalopathy NGS Genetic Test
Short Name: AMT Gene NGS Test
Also known as: AMT Gene Mutation Analysis, Non-Ketotic Hyperglycinemia Genetic Test, Glycine Encephalopathy NGS Panel, AMT Full Gene Sequencing
AMT Gene Glycine encephalopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / One drop blood on FTA card samples. Results in Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.. 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 this NGS genetic test is to detect disease-causing variants in the AMT gene that are associated with glycine encephalopathy / non-ketotic hyperglycinemia (NKH). It helps in confirming a clinical diagnosis, enabling early intervention, providing information for genetic counselling, and assisting with reproductive planning for affected families.
- Test Code
- 4102
- Price
- ₹20,000
- Sample Type
- Blood / Extracted DNA / One drop blood on FTA card
- Result Time
- Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation or fasting is required. A genetic counselling session is recommended before the test to discuss family history and obtain informed consent.
Method: Venipuncture or dried blood spot on FTA card
Laboratory Analysis
A small blood sample will be collected by venipuncture. For infants or difficult blood draws, a single drop of blood may be spotted on an FTA card.
Report Delivery
You can resume normal activities immediately. The sample will be processed in the genetics laboratory and reports will be delivered in 3 to 4 weeks.
Timeline: Reports are usually available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect disease-causing variants in the AMT gene that are associated with glycine encephalopathy / non-ketotic hyperglycinemia (NKH). It helps in confirming a clinical diagnosis, enabling early intervention, providing information for genetic counselling, and assisting with reproductive planning for affected families.
How to Prepare
- Bring the test requisition form with the patient’s clinical history
- Ensure correct patient identification on the sample tube/FTA card
- For FTA card, allow the blood spot to air dry before placing in the storage pouch
- Do not freeze whole blood samples
- Label the sample clearly with the patient’s full name, unique ID, and date of collection
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"For families planning a pregnancy or with a child affected by glycine encephalopathy, pre-test genetic counselling is essential. The AMT gene NGS test helps clarify the genetic basis and enables informed reproductive decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient amount of blood or DNA
- Sample without proper labeling
- FTA card not air-dried before shipping
- Sample received in inappropriate transport medium
Understanding Your Results
Pathogenic variant detected
The test identified a known disease-causing mutation in the AMT gene, consistent with a diagnosis of AMT-related glycine encephalopathy/NKH.
Likely pathogenic variant detected
The test identified a variant that is very likely to be disease-causing; additional family, functional or segregation studies may be recommended.
No pathogenic variant detected
No disease-causing variant was identified in the AMT gene. If clinical and biochemical findings are strong, alternative genes such as GLDC or GCSH may be considered.
Variant of uncertain significance (VUS)
A genetic change was found, but its clinical significance is unclear. Further testing of family members may help classify the variant.
If the test result is positive, consult a clinical geneticist or a neurologist for early intervention and treatment planning. If you have a family history of NKH or a known AMT mutation, consult your physician before planning a pregnancy.
Limitations
- ⚠NGS may not detect large exon-level deletions or duplications within the AMT gene unless specific CNV analysis is performed.
- ⚠This test does not analyze GLDC or GCSH genes, which are also associated with glycine encephalopathy.
- ⚠Variants in non-coding or regulatory regions may not be covered by this test.
- ⚠A negative result does not completely rule out glycine encephalopathy if clinical and biochemical findings are strongly suggestive.
Risks & Considerations
- ●Low risk of bruising or infection at the venipuncture site
- ●Minor discomfort during blood draw
- ●Emotional impact of a genetic diagnosis
Interfering Factors
- ●Insufficient DNA quantity or quality
- ●Contamination during sample collection
- ●Recent bone marrow transplantation can interfere with germline genetic testing
- ●Mislabeled sample or incorrect patient identification
- ●Presence of a variant of uncertain significance
Compare With Similar Tests
| Test | AMT Gene Glycine encephalopathy NGS Genetic Test | ||
|---|---|---|---|
| Comparison | AMT Gene Glycine encephalopathy NGS Genetic Test |
Frequently Asked Questions
What is the AMT Gene Glycine Encephalopathy NGS Genetic Test?
What does the AMT gene do?
Who should take this test?
What is the cost of the AMT gene NGS test at DNA Labs India?
What sample is needed for this test?
Is fasting required before the test?
How long does it take to get the reports?
What are the common symptoms of glycine encephalopathy?
Is home sample collection available?
Is there a cure for glycine encephalopathy?
Can this test detect all types of AMT mutations?
Is genetic counselling included with this test?
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