RPL35A Gene Diamond-Blackfan anemia type 5 NGS Genetic Test
Short Name: RPL35A DBA Type 5 NGS Test
Also known as: DBA Type 5 Genetic Test, RPL35A Gene Analysis, Diamond-Blackfan Anemia NGS Test
RPL35A Gene Diamond-Blackfan anemia type 5 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 RPL35A Gene Diamond-Blackfan Anemia Type 5 NGS Genetic Test is to identify mutations in the RPL35A gene that cause Diamond-Blackfan Anemia type 5. This test confirms the diagnosis in symptomatic individuals, aids in differential diagnosis from other anemias, supports family planning through carrier testing, and informs personalized treatment strategies.
- Test Code
- 2671
- 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 clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of family members affected with Diamond-Blackfan Anemia.
Method: Venipuncture
Laboratory Analysis
Standard blood draw procedure; for FTA card, a single drop of blood is applied.
Report Delivery
Sample is labeled and transported to the laboratory under ambient conditions for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RPL35A Gene Diamond-Blackfan Anemia Type 5 NGS Genetic Test is to identify mutations in the RPL35A gene that cause Diamond-Blackfan Anemia type 5. This test confirms the diagnosis in symptomatic individuals, aids in differential diagnosis from other anemias, supports family planning through carrier testing, and informs personalized treatment strategies.
How to Prepare
- Use EDTA tube for blood samples
- Ensure proper labeling with patient details
- For FTA card, follow manufacturer instructions for blood application
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is crucial for confirming Diamond-Blackfan Anemia diagnosis, especially in prenatal or pediatric cases, guiding treatment and genetic counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improperly labeled specimens
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of DBA type 5; recommend genetic counseling and treatment planning.
Negative for pathogenic variant
No mutation detected in RPL35A gene; consider other genetic causes or clinical evaluation.
Variant of uncertain significance
Further family studies or functional assays may be needed; consult geneticist.
Consult a hematologist or geneticist if symptoms of anemia persist, family history of DBA is present, or for prenatal counseling in at-risk families.
Limitations
- ⚠May not detect all rare variants or deep intronic mutations
- ⚠Requires correlation with clinical findings
- ⚠Genetic counseling recommended for interpretation
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact of genetic results; counseling advised
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Recent blood transfusions may affect DNA analysis
Frequently Asked Questions
What is Diamond-Blackfan Anemia?
What does the RPL35A gene do?
How is the RPL35A gene test performed?
What is the cost of this test in India?
Is home sample collection available?
How long does it take to get results?
What are the symptoms of Diamond-Blackfan Anemia?
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How accurate is the NGS genetic test?
Are there any risks associated with the test?
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