RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic Test
Short Name: RPS17 DBA Type 4 NGS Test
Also known as: Blackfan-Diamond Anemia Type 4, DBA4, RPS17-related Anemia
RPS17 Gene Diamond-Blackfan anemia type 4 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic Test is to detect mutations in the RPS17 gene using next-generation sequencing technology. This test provides a definitive diagnosis of Diamond-Blackfan Anemia Type 4, helps identify the specific genetic cause, guides personalized treatment plans, and facilitates carrier testing and genetic counseling for family members.
- Test Code
- 2674
- 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
Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Diamond-Blackfan Anemia.
Method: Venipuncture
Laboratory Analysis
A blood sample is collected via venipuncture, or extracted DNA or one drop of blood on an FTA card is used.
Report Delivery
The sample is labeled, stored at ambient room temperature, and transported to the laboratory for NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RPS17 Gene Diamond-Blackfan Anemia Type 4 NGS Genetic Test is to detect mutations in the RPS17 gene using next-generation sequencing technology. This test provides a definitive diagnosis of Diamond-Blackfan Anemia Type 4, helps identify the specific genetic cause, guides personalized treatment plans, and facilitates carrier testing and genetic counseling for family members.
How to Prepare
- Ensure proper patient identification and consent
- Use sterile equipment for blood collection
- Label the sample correctly with patient details
- Store the sample at room temperature and avoid hemolysis
- Transport the sample to the lab within 24 hours
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for RPS17 gene mutation is crucial for definitive diagnosis of Diamond-Blackfan Anemia Type 4, enabling targeted management and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Samples contaminated or improperly stored
Understanding Your Results
Positive for RPS17 mutation
Confirms Diamond-Blackfan Anemia Type 4. Genetic counseling and targeted treatment are recommended.
Negative for RPS17 mutation
No pathogenic variants detected in the RPS17 gene. Consider testing for other DBA-associated genes or clinical reassessment.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unclear. Further family studies and clinical correlation are advised.
Consult a hematologist or geneticist if the test is positive, if symptoms persist despite negative results, or for family planning and genetic counseling.
Limitations
- ⚠May not detect all possible genetic variants or mutations in the RPS17 gene
- ⚠Results require interpretation by a qualified geneticist or hematologist
- ⚠Does not rule out other genetic causes of Diamond-Blackfan Anemia
- ⚠Genetic counseling is recommended before and after testing
Risks & Considerations
- ●Minor bruising or discomfort at the blood draw site
- ●Rare risk of infection or bleeding
- ●Psychological impact of genetic results, requiring counseling
Interfering Factors
- ●Poor sample quality or insufficient DNA quantity
- ●Contamination during sample collection or processing
- ●Recent blood transfusions may affect DNA analysis
- ●Technical limitations in detecting all mutation types
Compare With Similar Tests
| Test | RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic Test | Complete Blood Count (CBC) | Bone Marrow Biopsy | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | RPS17 Gene Diamond-Blackfan anemia type 4 NGS Genetic Test | CBC measures red blood cell levels but cannot identify genetic causes; NGS test provides specific mutation detection. | Biopsy assesses bone marrow function but is invasive; NGS test is non-invasive and genetic-specific. | Sanger sequencing analyzes single genes; NGS can screen multiple genes simultaneously for efficiency. |
Frequently Asked Questions
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