RPGRIP1 Gene Cone-Rod Dystrophy Type 13 NGS Genetic Test
Short Name: RPGRIP1 CORD13 NGS Test
Also known as: RPGRIP1 Gene Test, Cone-Rod Dystrophy Type 13 NGS, RPGRIP1 Mutation Analysis
RPGRIP1 Gene Cone-Rod Dystrophy Type 13 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 Turnaround time is approximately 3 to 4 weeks from the time the sample is received by the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify pathogenic variants in the RPGRIP1 gene that are associated with cone-rod dystrophy type 13. It aids in confirming a clinical diagnosis, clarifying inheritance patterns, guiding medical management, and enabling informed genetic counselling for affected families.
- Test Code
- 3811
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Turnaround time is approximately 3 to 4 weeks from the time the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. Please carry all relevant clinical history, ophthalmic examination findings, and any previous genetic reports. A pedigree chart may be drawn during the genetic counselling session.
Method: Peripheral blood draw or FTA card sample
Laboratory Analysis
A small volume of blood will be drawn by a trained phlebotomist, or a few drops of blood will be applied on the FTA card. The procedure is painless and takes only a few minutes.
Report Delivery
You can resume your regular activities immediately. A bandage may be applied at the blood draw site, which can be removed after a short period.
Timeline: Turnaround time is approximately 3 to 4 weeks from the time the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the RPGRIP1 gene that are associated with cone-rod dystrophy type 13. It aids in confirming a clinical diagnosis, clarifying inheritance patterns, guiding medical management, and enabling informed genetic counselling for affected families.
How to Prepare
- For blood sample: Use EDTA vacutainer and mix gently to prevent clotting.
- For FTA card: Apply one drop of blood to each printed circle and let it air dry completely.
- Label the sample with patient name, date of birth, and date of collection.
- Ship the sample to the lab in the provided biohazard bag.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early diagnosis through genetic testing can help guide clinical management and family counseling for retinal dystrophies."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Incorrect or mislabelled container
- Insufficient sample quantity
- Sample received beyond the recommended stability period
Understanding Your Results
Confirms a molecular diagnosis of RPGRIP1-related cone-rod dystrophy. Supports genetic counselling, family cascade testing, and appropriate clinical surveillance.
Result type: Positive / Likely Pathogenic variant
No disease-causing variant was found in the RPGRIP1 gene. This does not rule out other genetic causes; consideration of a broader retinal dystrophy panel may be advised.
Result type: Negative / No pathogenic variant
A variant was identified, but its clinical significance is not clearly known. It may require further family studies or functional analysis to determine its role.
Result type: Variant of Uncertain Significance (VUS)
If you have symptoms such as progressive vision loss, night blindness, colour vision difficulties, photophobia, or a known family history of retinal dystrophy, consult an ophthalmologist regarding the appropriateness of this genetic test.
Risks & Considerations
- ●No significant medical risks are associated with this test.
- ●Blood sample collection may cause mild discomfort or bruising at the needle site.
- ●Genetic test results may have psychological or family impact; counselling is recommended.
Interfering Factors
- ●Low DNA yield or degraded DNA
- ●Sample contamination during collection
- ●Presence of interfering substances in the sample
- ●History of allogeneic bone marrow transplantation
Compare With Similar Tests
| Test | RPGRIP1 Gene Cone-Rod Dystrophy Type 13 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | RPGRIP1 Gene Cone-Rod Dystrophy Type 13 NGS Genetic Test |
Frequently Asked Questions
What is RPGRIP1 gene cone-rod dystrophy type 13?
Who should undergo this NGS genetic test?
Do I need to fast before the test?
What type of sample is required?
How is the test performed?
What does a positive result mean?
What does a negative result mean?
How long will the test report take?
What is the cost of the test?
Will I receive raw data files?
Is the test available across India?
Can this test predict severity of the disease?
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