Nx Gen Sequencing: Hereditary Retinoblastoma Test
Short Name: Hereditary Retinoblastoma Genetic Test
Also known as: RB1 Gene Sequencing Test, Retinoblastoma DNA Test
Nx Gen Sequencing: Hereditary Retinoblastoma Test test available at DNA Labs India for ₹28,665. Uses NGS (Next-Generation Sequencing), Sanger Sequencing on Whole Blood samples. Results in Reports are delivered within 45 days from sample receipt.. 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 Nx Gen Sequencing test for hereditary retinoblastoma is to identify pathogenic mutations in the RB1 gene, confirming a diagnosis of hereditary retinoblastoma, assessing risk in individuals with a family history, guiding clinical management, and supporting genetic counseling for affected families.
- Test Code
- 1341
- ICD Code
- ["C69.0", "D09.2"]
- Price
- ₹28,665
- Sample Type
- Whole Blood
- Result Time
- Reports are delivered within 45 days from sample receipt.
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing), Sanger Sequencing
Sample Collection
Complete the mandatory Whole Exome Sequencing Consent Form (Form 37). Provide detailed family and medical history. Consult with a genetic counselor or physician if needed.
Method: Venipuncture
Laboratory Analysis
A blood sample is drawn from a vein in the arm using a sterile needle and collected into EDTA tubes. The process takes a few minutes.
Report Delivery
Apply pressure to the puncture site with a cotton ball or bandage. Avoid strenuous activity with the arm for a short period. The sample is labeled and prepared for shipment.
Timeline: Reports are delivered within 45 days from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the Nx Gen Sequencing test for hereditary retinoblastoma is to identify pathogenic mutations in the RB1 gene, confirming a diagnosis of hereditary retinoblastoma, assessing risk in individuals with a family history, guiding clinical management, and supporting genetic counseling for affected families.
How to Prepare
- Do not freeze the sample
- Ship refrigerated as soon as possible
- Use the provided EDTA tubes and ensure proper labeling
- Attach the completed consent form with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for hereditary retinoblastoma is essential for early diagnosis, family planning, and targeted management. The Nx Gen Sequencing test provides high accuracy for RB1 mutations."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Inadequate sample volume (less than 5 mL)
- Hemolyzed or clotted samples
- Missing or incomplete consent form
- Improper storage or delayed shipment beyond stability window
Understanding Your Results
Pathogenic RB1 Mutation Detected
Confirms hereditary retinoblastoma; increases risk for the individual and family members. Genetic counseling and clinical management recommended.
Variant of Uncertain Significance (VUS)
A genetic change was found, but its clinical significance is unclear. Further testing and family studies may be needed.
No Pathogenic Variants Detected
No known disease-causing mutations in RB1 were identified. This does not completely rule out hereditary retinoblastoma, as other genes or mechanisms may be involved.
MYCN Amplification
May indicate a more aggressive form of retinoblastoma; requires clinical assessment and possibly different treatment approaches.
Consult a doctor or genetic counselor if you have a family history of retinoblastoma, notice symptoms in your child, receive a positive test result, or have questions about genetic testing and its implications for family planning.
Limitations
- ⚠May not detect all types of RB1 mutations or deep intronic variants
- ⚠Results require interpretation by a geneticist or healthcare provider
- ⚠Not a standalone diagnostic tool; clinical correlation is essential
- ⚠Does not cover all genes associated with retinoblastoma beyond RB1 and MYCN
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or soreness
- ●Potential psychological impact from genetic results
- ●Privacy and confidentiality concerns regarding genetic data
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample handling
- ●Hemolyzed or clotted blood samples
- ●Failure to follow sample collection guidelines
Compare With Similar Tests
| Test | Nx Gen Sequencing: Hereditary Retinoblastoma Test | RB1 Gene Single Mutation Analysis | Retinoblastoma Gene Panel | Whole Exome Sequencing |
|---|---|---|---|---|
| Comparison | Nx Gen Sequencing: Hereditary Retinoblastoma Test |
Frequently Asked Questions
What is the Nx Gen Sequencing test for hereditary retinoblastoma?
Who should consider this test?
What is the cost of the test in India?
How is the sample collected for the test?
What is the turnaround time for results?
How accurate is the Nx Gen Sequencing test?
What does a positive test result mean?
Can this test be used for prenatal diagnosis?
Is home sample collection available for this test?
What are the common symptoms of hereditary retinoblastoma?
How is retinoblastoma diagnosed besides genetic testing?
Why choose DNA Labs India for this test?
Related Tests
Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.