RPL11 Gene Diamond-Blackfan anemia type 7 NGS Genetic Test
Short Name: RPL11 DBA7 NGS Test
Also known as: DBA7, RPL11-related Diamond-Blackfan anemia
RPL11 Gene Diamond-Blackfan anemia type 7 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
To diagnose Diamond-Blackfan anemia type 7 by detecting mutations in the RPL11 gene using next-generation sequencing technology.
- Test Code
- 5580
- 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
No special preparation required. Ensure genetic counseling session is scheduled.
Method: Venipuncture or FTA Card
Laboratory Analysis
Blood sample will be drawn by a trained phlebotomist or collected via FTA card.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store sample as instructed.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Diamond-Blackfan anemia type 7 by detecting mutations in the RPL11 gene using next-generation sequencing technology.
How to Prepare
- Use sterile equipment
- Label sample correctly with patient details
- Follow standard phlebotomy procedures
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for early diagnosis and management of Diamond-Blackfan anemia type 7, enabling personalized treatment and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient volume
- Improperly labeled samples
Understanding Your Results
Positive
Pathogenic mutation detected in RPL11 gene, consistent with DBA7 diagnosis.
Negative
No pathogenic variants detected; DBA7 unlikely but clinical correlation recommended.
Variant of Uncertain Significance
Genetic variant found but significance unclear; further testing or family studies may be needed.
If symptoms of anemia, genetic disorders, or family history of DBA are present, consult a hematologist or geneticist immediately.
Limitations
- ⚠May not detect all genetic variants
- ⚠Requires genetic counseling for interpretation
- ⚠Results may have variants of uncertain significance
Risks & Considerations
- ●Minimal risk from blood draw (e.g., bruising, infection)
- ●Psychological impact of genetic results; genetic counseling recommended
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
- ●Improper sample handling
Compare With Similar Tests
| Test | RPL11 Gene Diamond-Blackfan anemia type 7 NGS Genetic Test | Traditional Sanger Sequencing | Complete Blood Count (CBC) |
|---|---|---|---|
| Comparison | RPL11 Gene Diamond-Blackfan anemia type 7 NGS Genetic Test |
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