GLRX5 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test
Short Name: GLRX5 Gene Anemia NGS Test
Also known as: GLRX5 mutation test, Sideroblastic anemia genetic test, Pyridoxine-refractory anemia NGS test
GLRX5 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the GLRX5 gene that cause sideroblastic anemia and pyridoxine-refractory anemia, enabling accurate diagnosis, genetic counseling, and personalized treatment plans.
- Test Code
- 5574
- 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
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Blood Draw
Laboratory Analysis
Blood sample will be collected via venipuncture or using an FTA card.
Report Delivery
Sample will be processed for NGS analysis; results available in 3-4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the GLRX5 gene that cause sideroblastic anemia and pyridoxine-refractory anemia, enabling accurate diagnosis, genetic counseling, and personalized treatment plans.
How to Prepare
- Ensure proper identification
- Use sterile equipment
- Label samples correctly
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This test is crucial for diagnosing rare genetic anemias and guiding treatment, especially in families with a history of autosomal recessive disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Insufficient volume
- Improper labeling
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of GLRX5 gene anemia; genetic counseling recommended.
Negative for pathogenic variant
No mutations detected; consider other causes of anemia.
Variant of uncertain significance
Further testing and clinical correlation needed.
Consult a doctor if you experience symptoms of anemia, have a family history of genetic disorders, or receive positive test results.
Limitations
- ⚠May not detect all possible mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
Risks & Considerations
- ●Psychological impact of results
- ●Privacy concerns with genetic data
- ●Minimal physical risk from blood draw
Interfering Factors
- ●Sample contamination
- ●Sample degradation
- ●Incorrect sample storage
Compare With Similar Tests
| Test | GLRX5 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test | Iron Studies Test | Hemoglobin Electrophoresis | Bone Marrow Biopsy |
|---|---|---|---|---|
| Comparison | GLRX5 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test | Measures iron levels but does not detect genetic mutations. | Identifies hemoglobin variants but not specific gene mutations. | Invasive procedure for assessing blood cell production; genetic test is non-invasive. |
Frequently Asked Questions
What is GLRX5 gene anemia?
What are the symptoms of GLRX5 gene anemia?
How is GLRX5 gene anemia diagnosed?
What is the cost of the NGS Genetic Test for GLRX5 gene anemia?
Is home sample collection available?
How long does it take to get the test results?
What does the test report include?
Is genetic counseling recommended before the test?
Can this test be done for children?
What are the risks of genetic testing?
How accurate is the NGS Genetic Test?
What should I do if the test is positive?
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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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