CDHR1 Gene Cone-Rod Dystrophy Type 15 NGS Genetic Test
Short Name: CDHR1 CORD15 NGS
Also known as: Cone-Rod Dystrophy 15 Genetic Test, CDHR1 Gene Sequencing, CORD15 NGS Test
CDHR1 Gene Cone-Rod Dystrophy Type 15 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 typically available within 3 to 4 weeks after sample collection.. 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
To detect mutations in the CDHR1 gene associated with Cone-Rod Dystrophy Type 15, confirm a clinical diagnosis, assess carrier status, and guide genetic counseling and family planning.
- Test Code
- 3814
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after sample collection.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Provide relevant clinical history and documentation if available.
Method: Venipuncture or Dried Blood Spot
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. If providing a saliva sample, follow the instructions on the collection kit. For FTA card, a drop of blood from a finger prick is collected.
Report Delivery
You can resume normal activities immediately. Results are typically available within 3 to 4 weeks.
Timeline: Reports are typically available within 3 to 4 weeks after sample collection.
Patient Instructions
About This Test
Who Should Get This Test
To detect mutations in the CDHR1 gene associated with Cone-Rod Dystrophy Type 15, confirm a clinical diagnosis, assess carrier status, and guide genetic counseling and family planning.
How to Prepare
- No fasting required.
- Maintain hydration before blood collection.
- Please bring any prior medical records or genetic counseling report.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for CDHR1-related cone-rod dystrophy can identify at-risk family members and provide crucial information for reproductive planning. We recommend that all patients undergo pre-test and post-test genetic counseling to fully understand the implications of their results."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Inadequate sample quantity
- Unlabelled or mislabelled sample
- Improperly stored or transported sample
Understanding Your Results
Negative (No pathogenic variant detected)
No disease-causing variant was found in the CDHR1 gene. A negative result does not completely exclude cone-rod dystrophy type 15, especially if clinical suspicion is high. Other genetic causes should be considered.
Positive (Pathogenic variant detected)
A disease-causing variant was identified in the CDHR1 gene, confirming the clinical diagnosis of cone-rod dystrophy type 15. This result is informative for family studies and reproductive decisions.
Variant of Unknown Significance (VUS)
A genetic variant was found whose significance is not yet clear. Additional testing of family members and further research may help classify the variant.
Consult your ophthalmologist or medical geneticist if you experience visual symptoms such as progressive loss of central vision, night blindness, or difficulty with colors, especially if there is a family history of retinal dystrophy.
Limitations
- ⚠NGS may not detect all types of mutations such as deep intronic variants or large structural rearrangements
- ⚠Variant calling may require confirmation by Sanger sequencing
- ⚠Test is specific to the CDHR1 gene and does not rule out other genetic causes of cone-rod dystrophy
Risks & Considerations
- ●Minimal risk of bleeding or bruising at the injection site
- ●Potential psychological impact from learning genetic status
Interfering Factors
- ●Poor quality or degraded DNA
- ●Sample contamination
- ●Low DNA concentration
- ●Large genomic rearrangements not detected by standard NGS
Frequently Asked Questions
What is the CDHR1 Gene Cone-Rod Dystrophy Type 15 NGS Genetic Test?
What does the CDHR1 gene do?
Who should get this test?
What are the symptoms of cone-rod dystrophy type 15?
How is this test performed?
What samples can be used for this test?
How long does the test take?
What is the cost of the test?
Does this test require fasting?
What do positive test results mean?
Can this test be used for family planning decisions?
Are home sample collection services available?
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₹20,000Reference 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.
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✓ 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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