GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic Test
Short Name: GATM Gene NGS Test
Also known as: GATM Deficiency, Arginine-glycine amidinotransferase deficiency
GATM Gene Arginine-glycine amidinotransferase deficiency 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 7, 2026
Overview
To diagnose Arginine-glycine amidinotransferase deficiency through genetic testing, enabling early intervention and management of this rare metabolic disorder.
- Test Code
- 4635
- 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
No special preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or FTA card collection
Laboratory Analysis
A blood sample is drawn via venipuncture or a drop of blood is collected on an FTA card. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Arginine-glycine amidinotransferase deficiency through genetic testing, enabling early intervention and management of this rare metabolic disorder.
How to Prepare
- Ensure proper identification of the patient
- Use sterile collection equipment
- Label the sample correctly with patient details
- Follow standard phlebotomy procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is crucial for managing GATM deficiency and providing appropriate care, including potential creatine supplementation and supportive therapies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Incorrectly labeled samples
- Insufficient sample volume
- Contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of GATM deficiency. Refer for clinical management and genetic counseling.
Negative for pathogenic variant
No mutations detected in the GATM gene. Consider other differential diagnoses if symptoms persist.
Variant of uncertain significance
Further testing or family studies may be required for clarification.
Consult a healthcare provider if you or a family member experience symptoms such as unexplained muscle weakness, developmental delays, or seizures, especially with a family history of metabolic disorders.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Results of uncertain significance may require further testing
- ⚠Does not assess creatine levels directly
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
- ●Potential for uncertain findings requiring further investigation
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic Test | Creatine Kinase Test | Urine Organic Acids Test | MRI Brain | Genetic Panel for Metabolic Disorders |
|---|---|---|---|---|---|
| Comparison | GATM Gene Arginine-glycine amidinotransferase deficiency NGS Genetic Test | Measures creatine kinase levels in blood, which may be elevated in muscle disorders but does not diagnose GATM deficiency specifically. | Detects abnormal metabolites in urine, which can indicate metabolic disorders but lacks genetic specificity. | Imaging to assess brain structure, useful for evaluating developmental delays but not diagnostic for GATM deficiency. | Broader genetic testing that may include GATM gene, but NGS test is more targeted for this specific deficiency. |
Frequently Asked Questions
What is GATM deficiency?
How is GATM deficiency diagnosed?
What are the symptoms of GATM deficiency?
What is the cost of the GATM Gene NGS Genetic Test in India?
Is home sample collection available for this test?
How long does it take to get the test results?
What sample type is required for the test?
Is fasting required before the test?
Can this test be used for prenatal diagnosis?
What should I do if the test result is positive?
Is the test covered by insurance in India?
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Reference Laboratory Services
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.
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
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