RB1 Gene Hereditary Retinoblastoma NGS Genetic Test
Short Name: RB1 Retinoblastoma NGS Test
Also known as: RB1 Gene Test, Hereditary Retinoblastoma Genetic Test, Retinoblastoma NGS Panel
RB1 Gene Hereditary Retinoblastoma 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
The purpose of the RB1 Gene Hereditary Retinoblastoma NGS Genetic Test is to detect mutations in the RB1 gene that are associated with hereditary retinoblastoma. This test aids in confirming diagnosis, assessing risk for family members, guiding treatment strategies, and informing genetic counseling for affected families.
- Test Code
- 2869
- 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
No special preparation is required. Provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture
Laboratory Analysis
A standard blood draw will be performed by a trained phlebotomist. For FTA card collection, a single drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store samples as instructed for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RB1 Gene Hereditary Retinoblastoma NGS Genetic Test is to detect mutations in the RB1 gene that are associated with hereditary retinoblastoma. This test aids in confirming diagnosis, assessing risk for family members, guiding treatment strategies, and informing genetic counseling for affected families.
How to Prepare
- Ensure proper patient identification and sample labeling
- Use sterile equipment for blood collection
- Follow aseptic techniques
- Transport samples at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for RB1 mutations can guide treatment, surveillance, and family planning for hereditary retinoblastoma."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled samples
- Contaminated samples
Understanding Your Results
Positive for pathogenic variant
Indicates a mutation in the RB1 gene associated with hereditary retinoblastoma. Genetic counseling and further clinical evaluation are recommended.
Negative for pathogenic variant
No mutations detected in the RB1 gene. However, clinical correlation is advised as not all mutations may be identified.
Variant of uncertain significance (VUS)
A genetic variant was found, but its clinical significance is unknown. Further testing and family studies may be needed.
Consult a doctor if your child shows symptoms of retinoblastoma, has a family history of the disease, or if genetic test results indicate a mutation. Regular follow-ups are essential for monitoring.
Limitations
- ⚠May not detect all types of RB1 mutations
- ⚠Results require interpretation by a genetic counselor
- ⚠Does not replace clinical diagnosis
- ⚠Limited to known genetic variants in databases
Risks & Considerations
- ●Minimal physical risks from blood draw (e.g., bruising)
- ●Psychological impact of genetic results
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Improper sample storage
- ●Recent blood transfusion
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Frequently Asked Questions
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