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C21ORF2 Gene Cone-Rod Dystrophy, C21ORF2 Related NGS Genetic Test

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C21ORF2 Gene Cone-Rod Dystrophy, C21ORF2 Related NGS Genetic Test

Short Name: C21ORF2 Gene Cone-Rod Dystrophy NGS Test

Also known as: C21ORF2 Cone-Rod Dystrophy Sequencing, C21ORF2-Related CRD NGS Panel, C21ORF2 Gene Mutation Test for Retinal Dystrophy

C21ORF2 Gene Cone-Rod Dystrophy, C21ORF2 Related 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 delivered within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 7, 2026

Overview

To detect pathogenic variants in the C21ORF2 gene associated with cone-rod dystrophy, confirming the clinical diagnosis and enabling accurate genetic counseling.

Test Code
3820
ICD Code
H35.50
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation or fasting is required. However, a clinical history and genetic counseling session are recommended before the test.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

A health care professional will collect a blood sample from your arm or a finger-prick blood spot on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No restrictions. You can resume normal activities immediately after sample collection. Your sample will be transported to the laboratory at ambient temperature if using FTA card or cold packs for blood.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A genetic counseling session is recommended to draw a pedigree and discuss the implications of results. No special medical preparation is needed.
2
During the Test:A blood sample is collected or an FTA card is spotted with a drop of blood. The sample is then sent to the genetic laboratory for NGS analysis.
3
After the Test:Your report will be ready in 3 to 4 weeks. You will receive a counseling call to discuss the results and next steps.

About This Test

Who Should Get This Test

To detect pathogenic variants in the C21ORF2 gene associated with cone-rod dystrophy, confirming the clinical diagnosis and enabling accurate genetic counseling.

How to Prepare

  • Bring a valid government ID for verification.
  • Inform the lab if you have had a blood transfusion in the past 6 months.
  • Ensure the FTA card paper is completely dry before placing it in the provided envelope.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"Genetic testing for inherited retinal disorders is essential for accurate diagnosis and counseling. For families with cone-rod dystrophy, identifying the causal variant helps in reproductive planning and understanding prognosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2 ml blood or equivalent extracted DNA or one FTA card spot
ContainerEDTA lavender top tube or FTA card
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole Blood (EDTA)
FTA Card Blood Spot
Extracted DNA
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • FTA card with insufficient blood spot
  • Improperly labeled sample
  • Sample leaking or damaged during transport

Understanding Your Results

The test identifies pathogenic mutations in the C21ORF2 gene. A positive result confirms a genetic cause for cone-rod dystrophy. A negative result does not exclude all genetic causes, as other genes may be involved.
📊

Positive

A disease-causing variant was identified in the C21ORF2 gene, confirming the diagnosis of C21ORF2-related cone-rod dystrophy.

📊

Negative

No pathogenic variant was detected in the C21ORF2 gene. Other genetic causes of cone-rod dystrophy may still be present.

📊

Variant of Uncertain Significance (VUS)

A genetic variant was detected but its clinical significance is unclear. Additional family testing or functional studies may be required.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist if you or your child experience unexplained visual impairment, color vision defects, or photophobia, especially with a family history of retinal dystrophy.

Limitations

  • ⚠NGS may not detect all types of mutations, including large structural variants or trinucleotide repeat expansions.
  • ⚠This test specifically targets the C21ORF2 gene and does not evaluate other genes associated with cone-rod dystrophy.
  • ⚠Negative results do not exclude a genetic cause if variants are in non-coding regions or unanalyzable due to technology limitations.

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as slight pain or bruising at the puncture site
  • ●No radiation or exposure risks from NGS testing

Interfering Factors

  • ●Poor DNA quality or quantity
  • ●Contamination during sample collection
  • ●Incorrect sample labeling
  • ●DNA degradation due to improper transport or storage

Compare With Similar Tests

TestC21ORF2 Gene Cone-Rod Dystrophy, C21ORF2 Related NGS Genetic TestC21ORF2 NGS Genetic TestRetinal Dystrophy Comprehensive NGS Panel
ComparisonC21ORF2 Gene Cone-Rod Dystrophy, C21ORF2 Related NGS Genetic Test

Frequently Asked Questions

What is the C21ORF2 gene cone-rod dystrophy NGS genetic test?
This is a targeted next-generation sequencing test that looks for mutations in the C21ORF2 gene, which are known to cause cone-rod dystrophy (CRD). It helps confirm a clinical diagnosis of C21ORF2-related CRD.
How much does the C21ORF2 NGS genetic test cost in India?
At DNA Labs India, the test costs INR 20,000. We also offer free home sample collection for online bookings across India.
What sample is needed for the test?
The test can be performed on a blood sample, extracted DNA, or one drop of blood on an FTA card. The lab accepts EDTA blood, extracted DNA, or dried FTA card samples.
Is fasting required before the test?
No, fasting is not required. You can eat and drink normally before the test.
How long does it take to get reports?
The turnaround time is approximately 3 to 4 weeks after the sample reaches the laboratory.
What is the role of the C21ORF2 gene in cone-rod dystrophy?
The C21ORF2 gene provides instructions for making a protein involved in ciliary function and DNA repair. Mutations in this gene lead to progressive degeneration of cone and rod photoreceptors, causing vision loss.
Who should consider this genetic test?
Individuals with symptoms of cone-rod dystrophy, such as decreased central vision, color blindness, photophobia, or night blindness, especially those with a family history of inherited retinal disease, should consider this test.
Can this test detect all genetic causes of cone-rod dystrophy?
No, this test specifically analyzes the C21ORF2 gene. Other genes such as ABCA4, GUCY2D, RPGR, etc., can also cause cone-rod dystrophy. A comprehensive retinal dystrophy panel may be needed if C21ORF2 testing is negative.
Will the test result affect my treatment?
A confirmed genetic diagnosis helps your ophthalmologist plan appropriate management, monitor complications, and guide you on clinical trials or future gene-based therapies. It also informs family members about their risk.
Is home sample collection available for this test?
Yes, DNA Labs India provides free home sample collection for online bookings in over 200 cities across India.
How accurate is NGS genetic testing?
NGS technology used in this test provides high-accuracy detection of mutations in the C21ORF2 gene. However, certain mutation types may not be detected; your genetic counselor will explain the limitations before testing.
How will I receive my test results?
You will receive your report via email, WhatsApp, and our online patient portal. A genetic counselor will also discuss the results with you.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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