RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis NGS Genetic Test
Short Name: RPS28 Gene DBA Type 15 NGS Test
Also known as: Diamond-Blackfan Anemia Type 15, DBA Type 15 with MFD, RPS28-related DBA
RPS28 Gene Diamond Blackfan anemia type 15 with mandibulofacial dysostosis 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 this test is to diagnose Diamond-Blackfan Anemia Type 15 caused by pathogenic variants in the RPS28 gene and to assess associated mandibulofacial dysostosis. It aids in confirming clinical suspicions, guiding treatment decisions, and providing genetic counseling for affected individuals and their families.
- Test Code
- 2658
- 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 detailed clinical history of the patient, including symptoms and family history. A genetic counseling session is recommended to draw a pedigree chart of affected family members.
Method: Blood Draw or Saliva Collection
Laboratory Analysis
Blood sample will be drawn from a vein or saliva collected using a kit. For FTA card, one drop of blood is applied.
Report Delivery
Sample is labeled and sent to the laboratory for NGS analysis. Results are typically available in 3 to 4 weeks.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose Diamond-Blackfan Anemia Type 15 caused by pathogenic variants in the RPS28 gene and to assess associated mandibulofacial dysostosis. It aids in confirming clinical suspicions, guiding treatment decisions, and providing genetic counseling for affected individuals and their families.
How to Prepare
- Ensure patient identification and sample labeling are accurate
- Follow aseptic techniques to prevent contamination
- For blood collection, use appropriate tubes (e.g., EDTA) and mix gently
- Store samples at ambient room temperature unless specified otherwise
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through NGS testing is crucial for managing Diamond-Blackfan Anemia and associated conditions like mandibulofacial dysostosis, enabling timely intervention and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improperly labeled or contaminated samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of DBA Type 15 with MFD; genetic counseling and management recommended.
Negative for pathogenic variant
No mutations detected in RPS28 gene; consider other genetic or clinical causes.
Variant of uncertain significance (VUS)
Further testing and clinical correlation needed; genetic counseling advised.
Consult a doctor if symptoms such as persistent anemia, facial abnormalities, growth issues, or developmental delays are present, especially with a family history of genetic disorders.
Limitations
- ⚠May not detect all possible genetic variants or mutations in the RPS28 gene
- ⚠Results require interpretation by a qualified geneticist or healthcare provider
- ⚠Does not replace comprehensive clinical evaluation and family history assessment
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Rare risk of infection at puncture site
- ●Emotional impact of genetic results; counseling recommended
Interfering Factors
- ●Sample contamination during collection or transport
- ●Improper storage conditions affecting DNA integrity
- ●Use of anticoagulants that may interfere with DNA extraction
Frequently Asked Questions
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We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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