SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test
Short Name: SLC25A38 Gene Anemia NGS Test
SLC25A38 Gene Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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
The purpose of this test is to diagnose SLC25A38 gene anemia by detecting mutations in the SLC25A38 gene using NGS technology. It helps confirm the condition, guide treatment options, and provide genetic counseling for affected individuals and families.
- Test Code
- 5576
- 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
- NGS Technology
Sample Collection
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with SLC25A38 gene anemia.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture, or DNA extracted from a previous sample, or one drop of blood on an FTA card.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store samples as per guidelines.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose SLC25A38 gene anemia by detecting mutations in the SLC25A38 gene using NGS technology. It helps confirm the condition, guide treatment options, and provide genetic counseling for affected individuals and families.
How to Prepare
- Provide clinical history
- Attend genetic counseling session
- Ensure proper sample labeling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing rare genetic anemias and guiding family planning or treatment decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Insufficient sample volume
- Contaminated sample
- Improper storage conditions
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of SLC25A38 gene anemia. Consult a geneticist for management.
Negative for pathogenic variant
No mutation detected. Consider other causes of anemia and repeat testing if clinically indicated.
If you or your child experiences symptoms such as fatigue, weakness, shortness of breath, pale skin, jaundice, or delayed growth, consult a doctor for evaluation and possible genetic testing.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
- ⚠Not for prenatal diagnosis without additional counseling
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
Frequently Asked Questions
What is SLC25A38 gene anemia?
How is SLC25A38 gene anemia diagnosed?
What are the symptoms of SLC25A38 gene anemia?
What is the cost of the SLC25A38 gene anemia NGS test?
Is fasting required for this test?
What sample types are accepted?
How long does it take to get results?
Is home sample collection available?
What does a positive test result mean?
Can this test be used for prenatal diagnosis?
Is the test covered by insurance?
Who should consider this test?
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✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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