RB1 Gene Hereditary Retinoblastoma NGS Genetic Test
Short Name: RB1 Hereditary Retinoblastoma NGS
Also known as: RB1 Mutation Analysis, Hereditary Retinoblastoma NGS Panel, Retinoblastoma Gene Sequencing
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 Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 3, 2026
Overview
The purpose of the RB1 gene hereditary retinoblastoma NGS genetic test is to identify pathogenic variants in the RB1 gene that cause hereditary retinoblastoma. It is used for diagnostic confirmation in clinically affected children and for predictive testing in at-risk family members. Determining the genetic basis helps distinguish hereditary and sporadic forms and informs lifelong cancer surveillance and reproductive counselling.
- Test Code
- 3845
- CPT Code
- N/A
- ICD Code
- N/A
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please bring any previous eye examination reports and family history details. A genetic counselling session is recommended to draw a pedigree chart of affected family members.
Method: Blood collection / dried blood spot / submitted DNA sample
Laboratory Analysis
A trained phlebotomist will collect a blood sample in an EDTA tube, or a single drop of blood can be placed on an FTA card. The collection procedure is quick and minimally invasive.
Report Delivery
The sample will be transported to the laboratory for NGS analysis. The patient can resume normal daily activities immediately after sample collection.
Timeline: Reports are usually available within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RB1 gene hereditary retinoblastoma NGS genetic test is to identify pathogenic variants in the RB1 gene that cause hereditary retinoblastoma. It is used for diagnostic confirmation in clinically affected children and for predictive testing in at-risk family members. Determining the genetic basis helps distinguish hereditary and sporadic forms and informs lifelong cancer surveillance and reproductive counselling.
How to Prepare
- Home sample collection is available for online bookings
- Please confirm the sample type (blood / FTA card / extracted DNA) with the laboratory
- Label the sample with patient name and collection date
- Ensure FTA card is air-dried and stored in a clean, dry pouch
- Carry a valid identification document and clinical history sheet
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"A confirmed RB1 mutation has important implications for the child and the family. Genetic counselling should accompany testing to help families understand recurrence risks and plan appropriate surveillance."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample quantity
- Hemolyzed or clotted blood sample
- Improperly labelled sample
- Sample not received in appropriate container
- Missing clinical history or consent documentation
Understanding Your Results
Pathogenic variant detected
Confirms hereditary retinoblastoma. Genetic counselling and predictive testing for family members are recommended.
Likely pathogenic variant detected
Suggests hereditary retinoblastoma. Additional family segregation studies may be useful.
Variant of uncertain significance (VUS)
The clinical impact is unknown. Further testing of family members may help clarify the significance.
No pathogenic variant detected
Reduces the likelihood of hereditary retinoblastoma but does not completely rule it out. Clinical correlation is required.
Parents should consult an ophthalmologist immediately if a child has a white glow in the pupil, crossed eyes, poor vision, eye redness or a family history of retinoblastoma. If there is a known RB1 mutation in the family, a clinical geneticist can help plan predictive testing and surveillance.
Limitations
- ⚠May not detect variants in deep intronic regions not covered by the NGS assay
- ⚠Large deletions or duplications may not be reliably detected by sequencing alone
- ⚠A variant of uncertain significance may not provide a definitive clinical answer
- ⚠Negative results do not completely exclude the possibility of hereditary retinoblastoma
Risks & Considerations
- ●Minimal physical risk from blood sample collection
- ●No direct medical treatment risk from the genetic test
- ●Possible psychological stress from receiving genetic information
- ●Risk of incidental findings that may affect other family members
Interfering Factors
- ●Low-quality or degraded DNA
- ●Low-level mosaicism may not be detected
- ●Large structural rearrangements may require additional deletion/duplication analysis
- ●Sample contamination or incorrect labelling
- ●Insufficient DNA quantity
Compare With Similar Tests
| Test | RB1 Gene Hereditary Retinoblastoma NGS Genetic Test | RB1 NGS Genetic Test | RB1 NGS Genetic Test |
|---|---|---|---|
| Comparison | RB1 Gene Hereditary Retinoblastoma NGS Genetic Test |
Frequently Asked Questions
What is the RB1 gene hereditary retinoblastoma NGS genetic test?
Why is this test done?
What is the cost of this test?
What sample is required?
Is fasting required before the test?
How long will the reports take?
Can NGS detect all RB1 mutations?
Does a negative result rule out hereditary retinoblastoma?
Who should be tested?
What is a variant of uncertain significance?
Do I need genetic counselling?
Will I receive raw data?
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