RPL15 Gene Diamond-Blackfan anemia type 12 NGS Genetic Test
Short Name: DBA Type 12 NGS Test
Also known as: DBA Type 12, RPL15-related anemia, Diamond-Blackfan anemia type 12 genetic test
RPL15 Gene Diamond-Blackfan anemia type 12 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 from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the RPL15 gene to diagnose Diamond-Blackfan anemia type 12, aiding in clinical management, family planning, and genetic counseling.
- Test Code
- 2664
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3-4 weeks from sample receipt
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide clinical history and undergo genetic counseling to draw a pedigree chart.
Method: Venipuncture
Laboratory Analysis
Standard blood draw using aseptic technique.
Report Delivery
Apply pressure to the puncture site; sample sent to lab for analysis.
Timeline: 3-4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the RPL15 gene to diagnose Diamond-Blackfan anemia type 12, aiding in clinical management, family planning, and genetic counseling.
How to Prepare
- Fast for 4-6 hours if specified by physician
- Avoid strenuous activity before collection
- Bring identification and prescription
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"NGS testing is crucial for accurate diagnosis of Diamond-Blackfan anemia type 12, enabling targeted management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Diamond-Blackfan anemia type 12. Genetic counseling recommended.
Negative for pathogenic variant
DBA type 12 unlikely, but clinical correlation needed. Consider other genetic or non-genetic causes.
Variant of uncertain significance
Further testing or family studies may be required for clarification.
Consult a genetic counselor or hematologist if symptoms of anemia persist, family history of DBA, or for interpretation of test results.
Limitations
- ⚠May not detect all genetic variants or mosaicism
- ⚠Results require correlation with clinical findings
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Contaminated or degraded DNA samples
- ●Recent blood transfusions may affect results
Compare With Similar Tests
| Test | RPL15 Gene Diamond-Blackfan anemia type 12 NGS Genetic Test | RPL19 Gene DBA Test | Complete Blood Count (CBC) | Bone Marrow Biopsy | DBA Genetic Panel |
|---|---|---|---|---|---|
| Comparison | RPL15 Gene Diamond-Blackfan anemia type 12 NGS Genetic Test |
Frequently Asked Questions
What is Diamond-Blackfan anemia type 12?
What are the symptoms of DBA type 12?
How is DBA type 12 diagnosed?
What is NGS genetic testing?
What is the cost of the RPL15 gene NGS test in India?
Is genetic testing covered by insurance?
How long does it take to get results?
What sample is required for the test?
Can this test be done at home?
What should I do before the test?
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Are there any risks associated with the test?
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