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POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic Test

Short Name: POC1B CORD20 NGS

Also known as: POC1B Gene Mutation Test, Cone-Rod Dystrophy Type 20 NGS Test, POC1B Genetic Test

POC1B Gene Cone-Rod Dystrophy Type 20 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 Samples are processed after the laboratory receives them. Reports are generally delivered within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic variants in the POC1B gene using NGS technology to confirm a clinical suspicion of cone-rod dystrophy type 20, assess the autosomal recessive inheritance pattern, and support genetic counseling for patients and families.

Test Code
3816
ICD Code
H35.53
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Samples are processed after the laboratory receives them. Reports are generally delivered within 3 to 4 weeks from sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Carry any previous eye examination reports, including visual fields, OCT, fundus imaging and family history details. A genetic counseling session may be arranged before sample collection.

Method: Venous blood collection, FTA card spot, or submitted extracted DNA

Step 2

Laboratory Analysis

A trained phlebotomist will collect blood from a vein in the arm. For FTA card collection, a single drop of blood is applied to the marked circles and air-dried.

Step 3

Report Delivery

The sample is labeled and transported to the laboratory. You can track the test status online. Genetic counseling will be offered after reports are available to explain the result.

Timeline: Samples are processed after the laboratory receives them. Reports are generally delivered within 3 to 4 weeks from sample receipt.

Patient Instructions

1
Before the Test:No special preparation or fasting is needed. Please share your clinical history, ophthalmic examination reports and family pedigree with the genetic counselor before sample collection.
2
During the Test:The sample collection is quick and routine. For blood collection, only a small amount of blood is drawn from the vein. For FTA card, a finger-prick or blood spot is collected.
3
After the Test:After sample collection, you can resume normal activities. The laboratory will process the sample and the report will be shared online and through email/WhatsApp once ready.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic variants in the POC1B gene using NGS technology to confirm a clinical suspicion of cone-rod dystrophy type 20, assess the autosomal recessive inheritance pattern, and support genetic counseling for patients and families.

How to Prepare

  • Blood: collect in an EDTA vacutainer and mix gently by inversion.
  • FTA card: apply one drop of blood to the marked circle and air-dry completely.
  • Extracted DNA: submit DNA in a sterile tube with concentration and purity details.
  • Label the sample with the patient name, date and time of collection.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Patients presenting with symptoms suggestive of cone-rod dystrophy should first undergo a complete ophthalmic evaluation, including fundus examination, visual fields, color vision and retinal imaging. Genetic confirmation through the POC1B gene test helps establish the exact diagnosis, provide visual prognosis and enable appropriate family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA tube / FTA card / sterile DNA vial
Collection MethodVenous blood collection, FTA card spot, or submitted extracted DNA

Sample Stability

Blood in EDTA: transport at 2-8°C or ambient temperature and process within 24-48 hours.
FTA card: stable at room temperature for several months if kept dry.
Extracted DNA: stable at 2-8°C for short-term use and at -20°C for long-term storage.
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample in non-EDTA tube
  • Insufficient sample quantity
  • Improperly labeled or leaking container
  • Sample received outside the recommended stability period

Understanding Your Results

The genetic test report should be interpreted by a qualified clinical geneticist in the context of the patient's symptoms, family history and ophthalmic examination findings.
Positive: Detection of a pathogenic or likely pathogenic variant in POC1B confirms the diagnosis of cone-rod dystrophy type 20 in the appropriate clinical context.
Negative: No pathogenic variant was found in POC1B. This does not exclude other genetic causes of retinal dystrophy.
Variant of uncertain significance: A VUS was identified. Additional family testing and further analysis may be helpful to classify the variant.
⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist if you or a family member has early-onset visual loss, photophobia, color vision defects, night blindness, or peripheral visual field loss, especially with a family history of inherited retinal disease.

Limitations

  • ⚠This test is limited to the POC1B gene and does not evaluate other genes associated with cone-rod dystrophy.
  • ⚠NGS may not detect large deletions, insertions, deep intronic variants, repeat expansions or complex structural rearrangements.
  • ⚠A variant of uncertain significance (VUS) may require additional family studies and further analysis.

Risks & Considerations

  • ●Minor bruising, pain or bleeding at the blood draw site
  • ●No significant medical risks are associated with genetic testing

Interfering Factors

  • ●Inadequate DNA quantity or quality
  • ●Sample contamination with maternal cells or foreign DNA
  • ●Incorrect sample labeling or storage conditions
  • ●Variants in regions not covered by NGS may not be detected

Frequently Asked Questions

What is cone-rod dystrophy type 20 caused by?
Cone-rod dystrophy type 20 is caused by mutations in the POC1B gene. It is inherited in an autosomal recessive pattern.
What are the common symptoms of cone-rod dystrophy type 20?
Symptoms include decreased visual acuity, sensitivity to bright light, loss of color vision, night blindness and progressive loss of peripheral vision.
Who should undergo this genetic test?
Individuals with clinical features suggestive of cone-rod dystrophy, a family history of inherited retinal dystrophy, or a known POC1B mutation in the family should consider this test.
What sample is needed for the POC1B gene NGS test?
Blood in EDTA, one drop of blood on FTA card, or extracted DNA can be used for this test.
Is fasting required before sample collection?
No, fasting is not required for this genetic test.
How much does the POC1B Gene Cone-Rod Dystrophy Type 20 NGS Genetic Test cost in India?
The cost is INR 20,000 at DNA Labs India.
How long does it take to get the report?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Does DNA Labs India provide raw data with the report?
Yes, DNA Labs India shares raw data, FASTQ and VCF files along with the conclusive clinical report.
Can this test detect all types of cone-rod dystrophy?
No, this test only analyses the POC1B gene. A comprehensive retinal dystrophy panel may be considered if the cause is not identified.
What does a negative result mean?
A negative result means no pathogenic variant was detected in POC1B. However, other genetic causes cannot be completely ruled out.
Are home sample collection services available?
Yes, DNA Labs India offers free home sample collection for online bookings across multiple cities in India.
What follow-up is recommended after a positive result?
A genetic counselor or clinical geneticist can explain the inheritance pattern, discuss prognosis and guide family members regarding testing.
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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