RPS19 Gene Diamond-Blackfan anemia type 1 NGS Genetic Test
Short Name: RPS19 Gene DBA Type 1 NGS Test
Also known as: RPS19 Gene Mutation Test, Diamond-Blackfan Anemia Genetic Test
RPS19 Gene Diamond-Blackfan anemia type 1 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose Diamond-Blackfan anemia type 1 by identifying mutations in the RPS19 gene and to identify family members at risk of developing the condition.
- Test Code
- 2666
- 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.
Laboratory Analysis
Your sample is analyzed using Next-Generation Sequencing (NGS) in our laboratory.
Report Delivery
A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Diamond-Blackfan anemia type 1 by identifying mutations in the RPS19 gene and to identify family members at risk of developing the condition.
How to Prepare
- Collect blood sample in EDTA tube or use FTA card for one drop blood.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for RPS19 mutations is essential for confirming Diamond-Blackfan anemia and guiding family counseling and management."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Understanding Your Results
If symptoms of anemia persist, if genetic test results are positive, or for genetic counseling regarding family planning.
Risks & Considerations
- ●Minimal risk from blood draw such as bruising or infection
- ●Genetic counseling recommended for emotional impact of results
Frequently Asked Questions
What is Diamond-Blackfan anemia?
What is the RPS19 gene?
How is the NGS genetic test performed?
What are the symptoms of DBA type 1?
Who should get this test?
How accurate is the test?
What does a positive result mean?
What if the test is negative?
Is genetic counseling required?
How long does it take to get results?
Is the test covered by insurance?
What is the cost of the test?
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