SLC19A2 Gene Thiamine-responsive megaloblastic anemia syndrome NGS Genetic Test
Short Name: SLC19A2 Gene TRMA NGS Test
Also known as: Thiamine-responsive megaloblastic anemia syndrome, TRMA, SLC19A2-related disorder
SLC19A2 Gene Thiamine-responsive megaloblastic anemia syndrome 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 Thiamine-responsive megaloblastic anemia syndrome by detecting mutations in the SLC19A2 gene, enabling targeted treatment with thiamine supplementation and management of associated symptoms.
- Test Code
- 5633
- 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
Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with TRMA.
Method: Venipuncture or FTA card application
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.
Report Delivery
Sample labeled and transported to the laboratory under appropriate conditions for DNA extraction and analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Thiamine-responsive megaloblastic anemia syndrome by detecting mutations in the SLC19A2 gene, enabling targeted treatment with thiamine supplementation and management of associated symptoms.
How to Prepare
- Ensure patient identification and consent
- Use sterile equipment for blood draw
- For FTA card, apply one drop of blood and air dry
- Store samples at ambient room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is essential for confirming TRMA diagnosis and initiating thiamine therapy, which can significantly improve patient outcomes by addressing anemia, diabetes, and hearing loss."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or clotted blood
- Incorrect labeling
- Contaminated samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of TRMA; recommend thiamine supplementation and multidisciplinary care
Likely pathogenic variant detected
Strong indication of TRMA; genetic counseling and clinical correlation advised
Variant of uncertain significance
Further testing or family studies may be needed; consult geneticist
No pathogenic variants detected
TRMA unlikely based on genetic testing; consider other diagnoses
If symptoms of anemia, diabetes, or hearing loss are present, or if there is a family history of TRMA, consult a hematologist or geneticist for evaluation and possible testing.
Limitations
- ⚠May not detect all genetic variants; genetic counseling is recommended
- ⚠Results should be correlated with clinical findings
- ⚠Does not rule out other genetic disorders
Risks & Considerations
- ●Minor bruising or pain at the needle site
- ●Rare risk of infection
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Incorrect sample type
Frequently Asked Questions
What is Thiamine-responsive megaloblastic anemia syndrome (TRMA)?
What are the symptoms of TRMA?
How is TRMA diagnosed?
What is the cost of the SLC19A2 Gene TRMA NGS Genetic Test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get results?
Is home sample collection available?
What should I do if I have a family history of TRMA?
Can TRMA be treated?
Is this test covered by insurance?
What are the limitations of this test?
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