GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic Test
Short Name: GAMT Gene NGS Genetic Test
Also known as: GAMT Deficiency Test, Creatine Deficiency Syndrome Type 1 Genetic Test, Guanidinoacetate Methyltransferase Gene Sequencing, GAMT Gene Mutation Analysis, Cerebral Creatine Deficiency Syndrome Type 1 NGS Test
GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Targeted Gene Panel Sequencing, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at 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 the GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the GAMT gene that cause GAMT deficiency, a treatable inborn error of creatine metabolism. This test enables definitive molecular confirmation of clinically suspected cases, allows carrier testing for at-risk family members, facilitates informed genetic counselling regarding recurrence risks, and supports prenatal or preimplantation genetic diagnosis in families with a known pathogenic variant. Early molecular diagnosis allows timely therapeutic intervention with creatine supplementation and dietary arginine restriction, which can substantially improve neurodevelopmental outcomes.
- Test Code
- 2069
- CPT Code
- 81479
- ICD Code
- E72.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Targeted Gene Panel Sequencing, Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is recommended before sample collection to draw a pedigree chart of family members affected with Guanidinoacetate Methyltransferase Deficiency. Clinical history of the patient, including onset of symptoms, developmental milestones, seizure history, family history, and consanguinity details, should be documented. No fasting is required prior to blood collection.
Method: Venipuncture or Heel Prick (for neonates)
Laboratory Analysis
A 3-5 mL venous blood sample is collected in an EDTA (lavender top) vacutainer using standard venipuncture technique. For neonates or infants, a heel-prick sample collected on an FTA card is acceptable. Proper sample labeling and chain-of-custody documentation are maintained throughout.
Report Delivery
The collected blood sample or extracted DNA is transported to the laboratory under appropriate temperature conditions. DNA extraction is performed and quality-checked before NGS library preparation and sequencing. The report is typically delivered within 3 to 4 weeks through the online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the GAMT Gene Guanidinoacetate Methyltransferase Deficiency NGS Genetic Test is to identify pathogenic or likely pathogenic variants in the GAMT gene that cause GAMT deficiency, a treatable inborn error of creatine metabolism. This test enables definitive molecular confirmation of clinically suspected cases, allows carrier testing for at-risk family members, facilitates informed genetic counselling regarding recurrence risks, and supports prenatal or preimplantation genetic diagnosis in families with a known pathogenic variant. Early molecular diagnosis allows timely therapeutic intervention with creatine supplementation and dietary arginine restriction, which can substantially improve neurodevelopmental outcomes.
How to Prepare
- Collect blood in an EDTA (lavender top) vacutainer
- Ensure proper patient identification and sample labeling
- Mix blood gently by inversion 8-10 times immediately after collection
- For FTA card samples, apply one full drop of blood and allow to air dry completely
- Store whole blood at 2-8°C if not dispatched immediately
- Transport the sample to the laboratory within 48-72 hours of collection
- Include completed test requisition form with clinical history and consent
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"GAMT deficiency is a treatable inborn error of metabolism. Early genetic diagnosis allows timely initiation of creatine and ornithine supplementation combined with arginine restriction, which can significantly improve neurodevelopmental outcomes. Families with a known history of creatine deficiency syndromes or consanguinity should consider carrier testing and prenatal or preimplantation genetic diagnosis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in a non-EDTA anticoagulant or wrong collection tube
- Clotted or hemolyzed blood sample
- Sample without proper labeling or requisition form
- DNA extracted with A260/A280 ratio below 1.6 indicating poor purity
- Insufficient sample volume for DNA extraction
- Sample received beyond the acceptable stability window
Understanding Your Results
No Pathogenic Variants Detected
Low probability of GAMT deficiency
Pathogenic or Likely Pathogenic Variant(s) Detected
Confirms diagnosis of GAMT deficiency (biallelic variants) or carrier status (monoallelic variant)
Variant of Uncertain Significance (VUS) Detected
Inconclusive; requires further investigation and genetic counselling
Consult a paediatric neurologist, metabolic disease specialist, or clinical geneticist if the test result indicates the presence of pathogenic variants in the GAMT gene. Immediate medical consultation is recommended if your child presents with unexplained developmental delay, intellectual disability, seizures, movement disorders, or behavioral abnormalities. Families with a confirmed pathogenic variant should seek genetic counselling for recurrence risk assessment and family planning options.
Limitations
- ⚠This test does not detect variants in deep intronic regions, regulatory elements, or promoter regions unless specifically targeted
- ⚠Large structural rearrangements or balanced translocations may not be detected by standard NGS analysis
- ⚠The test may identify Variants of Uncertain Significance (VUS) that cannot be definitively classified as pathogenic or benign at the time of reporting
- ⚠Mosaicism at low levels (below ~10% allele frequency) may not be reliably detected
- ⚠This test does not assess for epigenetic changes or mitochondrial DNA variants
- ⚠Biochemical confirmation through guanidinoacetate and creatine level measurement is recommended alongside genetic testing
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Very small risk of infection at the venipuncture site
- ●Psychological impact of genetic diagnosis on the patient and family
- ●Possibility of identifying Variants of Uncertain Significance requiring further investigation
Interfering Factors
- ●Degraded or low-quality DNA may affect sequencing coverage and accuracy
- ●Recent blood transfusion within the past 30 days may result in mixed DNA population
- ●Heavily contaminated samples may produce inconclusive results
- ●Presence of pseudogenes or highly homologous regions may affect variant calling in certain regions
Compare With Similar Tests
| Test | GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic Test | Plasma/Urine Guanidinoacetate (GAA) Levels | Brain MR Spectroscopy (MRS) | Sanger Sequencing of GAMT Gene | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | GAMT Gene Guanidinoacetate methyltransferase deficiency NGS Genetic Test |
Frequently Asked Questions
What is GAMT Gene Guanidinoacetate Methyltransferase Deficiency?
How is GAMT deficiency inherited?
Who should get tested for GAMT deficiency?
What sample is required for the GAMT Gene NGS Genetic Test?
How long does it take to get the test results?
What does a positive (pathogenic variant detected) result mean?
Is GAMT deficiency treatable?
What is the cost of the GAMT Gene NGS Genetic Test at DNA Labs India?
Is genetic counselling available with this test?
Can this test be done from home?
What is NGS technology and why is it used for this test?
Does DNA Labs India provide raw sequencing data along with the clinical report?
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