TMPRSS6 Gene Iron-refractory iron deficiency anemia NGS Genetic Test
Short Name: TMPRSS6 IRIDA NGS Test
Also known as: Iron-refractory iron deficiency anemia, IRIDA
TMPRSS6 Gene Iron-refractory iron deficiency anemia 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 3-4 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 Iron-refractory iron deficiency anemia (IRIDA) by identifying mutations in the TMPRSS6 gene using Next Generation Sequencing, enabling personalized treatment and management.
- Test Code
- 5595
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of affected family members are required.
Method: Blood Draw
Laboratory Analysis
Standard blood draw procedure from a vein in the arm, or collection of extracted DNA or blood on FTA card.
Report Delivery
Sample is processed for DNA extraction and sequencing in the laboratory.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Iron-refractory iron deficiency anemia (IRIDA) by identifying mutations in the TMPRSS6 gene using Next Generation Sequencing, enabling personalized treatment and management.
How to Prepare
- No fasting required for this test
- Bring valid identification and doctor's prescription
- Inform the healthcare provider about any medications or supplements
- Ensure proper labeling of the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis of IRIDA through genetic testing can guide personalized treatment and improve patient outcomes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improper labeling or documentation
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of IRIDA; genetic counseling and personalized treatment recommended.
Negative for pathogenic variant
No mutations detected; consider other causes of anemia.
Variant of uncertain significance
Further testing and clinical correlation advised.
Consult a doctor if symptoms of anemia persist, for genetic counseling, or to discuss test results and treatment options.
Limitations
- ⚠May not detect all possible mutations in the TMPRSS6 gene
- ⚠Results require correlation with clinical findings and family history
- ⚠Genetic counseling is recommended for interpretation and implications
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection
- ●Fainting or dizziness during blood collection
Interfering Factors
- ●Sample degradation or contamination
- ●Technical errors during sequencing or analysis
- ●Insufficient DNA quantity or quality
Compare With Similar Tests
| Test | TMPRSS6 Gene Iron-refractory iron deficiency anemia NGS Genetic Test | Serum Iron Test | Ferritin Test | Hemoglobin Electrophoresis | Complete Blood Count (CBC) |
|---|---|---|---|---|---|
| Comparison | TMPRSS6 Gene Iron-refractory iron deficiency anemia NGS Genetic Test | Measures iron levels but does not identify genetic causes. | Assesses iron stores but not specific for IRIDA. | Detects hemoglobin disorders, not iron metabolism defects. | Evaluates anemia but lacks genetic specificity. |
Frequently Asked Questions
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