RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic Test
Short Name: RIMS1 CRD7 NGS Genetic Test
Also known as: RIMS1 gene mutation analysis, Cone-rod dystrophy type 7 genetic test, RIMS1 NGS test
RIMS1 Gene Cone-Rod Dystrophy Type 7 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 generally delivered within 3 to 4 weeks after the sample is received by the laboratory.. 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 this test is to identify genetic variants in the RIMS1 gene in individuals with suspected cone-rod dystrophy type 7, confirm the clinical diagnosis, and help guide management and family discussions.
- Test Code
- 3821
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally delivered within 3 to 4 weeks after the sample is received by the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. It is important to share the clinical history and any previous eye test reports. A genetic counselling session may be arranged to draw a family pedigree and discuss the purpose of the test.
Method: Venipuncture / FTA spot collection
Laboratory Analysis
A small blood sample is collected from a vein, or a single drop of blood is placed on an FTA card. The procedure takes a few minutes and is generally safe.
Report Delivery
You can resume normal activities. The laboratory will process the sample and provide the report in 3 to 4 weeks.
Timeline: Reports are generally delivered within 3 to 4 weeks after the sample is received by the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify genetic variants in the RIMS1 gene in individuals with suspected cone-rod dystrophy type 7, confirm the clinical diagnosis, and help guide management and family discussions.
How to Prepare
- No fasting is required
- Share relevant clinical history and family pedigree
- Home sample collection is available for online bookings
- Ask for Raw Data, FASTQ and VCF files along with the clinical report
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"An ophthalmologist may order this NGS genetic test when clinical findings and imaging are suggestive of cone-rod dystrophy. The genetic result supports precision counselling, surveillance and family management, but it should always be combined with the clinical evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample or sample in an incorrect container
- Unlabeled or mislabeled sample
- Clotted blood sample unsuitable for DNA extraction
- Sample leaking during transportation
Understanding Your Results
Consult an ophthalmologist or clinical geneticist if you or a family member have symptoms such as decreasing vision, night blindness, colour vision loss, difficulty seeing fine details, or a known family history of retinal dystrophy.
Limitations
- ⚠This is a targeted test for the RIMS1 gene only; variants in other genes causing similar retinal dystrophies are not assessed.
- ⚠Large structural rearrangements may not be identified by standard NGS analysis.
- ⚠Variants of uncertain significance may require additional family studies.
- ⚠A negative result does not exclude cone-rod dystrophy type 7 or another inherited retinal condition.
Risks & Considerations
- ●Minimal bruising or pain at the venipuncture site
- ●Slight bleeding at the injection site
- ●FTA card collection is minimally invasive
Interfering Factors
- ●Insufficient or degraded DNA
- ●Contamination during sample collection
- ●Low sequencing depth in specific genetic regions
- ●Sample mislabelling or wrong collection tube
Compare With Similar Tests
| Test | RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic Test | ||
|---|---|---|---|
| Comparison | RIMS1 Gene Cone-Rod Dystrophy Type 7 NGS Genetic Test |
Frequently Asked Questions
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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.
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