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DNA Labs India

PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic Test

Short Name: PDE6C CORD4 NGS Test

Also known as: PDE6C Gene Sequencing, CORD4 Genetic Test, Cone-Rod Dystrophy Type 4 NGS Evaluation

PDE6C Gene Cone-Rod Dystrophy Type 4 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 available in 3 to 4 weeks after the sample is received at the laboratory.. 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 disease-causing variants in the PDE6C gene using next-generation sequencing, thereby confirming or ruling out cone-rod dystrophy type 4 and enabling informed clinical management and genetic counseling.

Test Code
3819
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available in 3 to 4 weeks after the sample is received at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient should provide a valid referral, clinical history, and signed consent. Pre-test genetic counseling is recommended to explain the benefits, risks, and limitations of the test.

Method: Venipuncture / Finger-prick FTA spot

Step 2

Laboratory Analysis

A small blood sample will be collected by a phlebotomist. If an FTA card is used, one drop of blood is sufficient. The procedure is quick and causes minimal discomfort.

Step 3

Report Delivery

You may resume your normal routine immediately. The sample is labeled and transported to the laboratory for NGS processing. A detailed clinical report will be shared once analysis is complete.

Timeline: Reports are generally available in 3 to 4 weeks after the sample is received at the laboratory.

Patient Instructions

1
Before the Test:Genetic counseling is recommended before testing to understand the purpose, risks, alternatives, and possible implications of the results.
2
During the Test:A blood sample is collected or an FTA card spot is prepared. The collection takes around five minutes.
3
After the Test:No special precautions are needed after the test. Await the report and discuss the results with your doctor and genetic counselor.

About This Test

Who Should Get This Test

The purpose of this test is to identify disease-causing variants in the PDE6C gene using next-generation sequencing, thereby confirming or ruling out cone-rod dystrophy type 4 and enabling informed clinical management and genetic counseling.

How to Prepare

  • Blood sample in EDTA vacutainer is preferred
  • FTA card spot should be fully dried before packaging
  • Extracted DNA sample should be labeled and stored appropriately
  • Patient name, date of birth, and referral details must be written clearly

Doctor's Notes

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

"A molecular diagnosis of cone-rod dystrophy can clarify recurrence risk and support informed family planning. Pre-test genetic counseling and post-test interpretation by a qualified doctor are essential."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodVenipuncture / Finger-prick FTA spot

Sample Stability

Whole blood: store at 2-8°C and transport within 48 hours
FTA card: stable at ambient temperature for several weeks
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Incorrectly labeled sample
  • Sample without signed consent or clinical history
  • Degraded or contaminated DNA

Understanding Your Results

The PDE6C gene NGS test is interpreted in the context of clinical symptoms, eye examination findings, family history, and genetic counseling. Variants are classified according to ACMG/AMP guidelines.
No pathogenic/likely pathogenic variant detected: does not exclude CORD4; other genetic or non-genetic causes may be considered.
Pathogenic or likely pathogenic variant identified: supports the clinical diagnosis; correlation with phenotype is essential.
Variant of uncertain significance (VUS): needs additional family studies and further clinical correlation.
Multiple variants identified: parental or sibling testing may be needed to determine phase.
Benign or likely benign variants: not considered causative; a different genetic cause may be investigated.
⚠️ When to Consult a Doctor:

Consult an ophthalmologist or clinical geneticist if you or your child have progressive vision loss, abnormal color vision, night blindness, visual field narrowing, or light sensitivity. Genetic testing should always be ordered and interpreted by a qualified doctor.

Limitations

  • ⚠NGS may not reliably detect large deletions, duplications, or structural rearrangements
  • ⚠Deep intronic and regulatory region variants are not covered
  • ⚠A negative result does not exclude all genetic causes of cone-rod dystrophy
  • ⚠Variant of uncertain significance may require additional family testing

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Rare risk of infection or prolonged bleeding
  • ●Psychological impact of genetic testing results

Interfering Factors

  • ●Low-quality or degraded DNA
  • ●Sample contamination
  • ●Incorrect or incomplete clinical/family history
  • ●Mutations located outside the targeted coding and flanking regions
  • ●Mosaic variants below the assay detection threshold

Compare With Similar Tests

TestPDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic TestPDE6C Targeted NGSSanger SequencingRetinal Dystrophy Multigene PanelWhole Exome Sequencing
ComparisonPDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic Test

Frequently Asked Questions

What is the PDE6C Gene Cone-Rod Dystrophy Type 4 NGS Genetic Test?
This test uses next-generation sequencing to scan the PDE6C gene for mutations that may cause cone-rod dystrophy type 4. It helps confirm a clinical diagnosis and guides genetic counseling.
What is cone-rod dystrophy type 4?
Cone-rod dystrophy type 4 is a rare inherited retinal disorder that affects cone and rod photoreceptors. It causes progressive loss of visual acuity, abnormal color vision, night blindness, and light sensitivity.
What is the cost of this test at DNA Labs India?
The test costs INR 20,000. DNA Labs India offers free home sample collection for online bookings, making it convenient for patients across major cities.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card is accepted. Blood in an EDTA vacutainer is preferred for optimal results.
Is fasting required before the test?
No fasting is required for this PDE6C gene NGS test.
How long will the reports take?
Reports are generally available in 3 to 4 weeks after the sample reaches the laboratory.
Will I receive raw data with the report?
Yes. DNA Labs India shares raw data files such as FASTQ and VCF along with the conclusive clinical report, promoting complete transparency.
Can this test detect all mutations in PDE6C?
NGS reliably detects single nucleotide variants, small insertions and deletions, and splice-site variants in the covered regions. It may not detect large structural rearrangements or deep intronic mutations.
Who should get this test?
Individuals with symptoms suggestive of cone-rod dystrophy, those with a family history of inherited retinal disorders, or patients needing molecular confirmation after an abnormal eye exam may be considered for this test.
Do I need genetic counseling before the test?
Pre-test genetic counseling is recommended. A genetic counselor will help construct a family pedigree, explain the test's benefits and limitations, and guide you about result interpretation.
Is this test covered by insurance?
Coverage depends on the insurer. This test is not covered under routine public schemes in most cases; please check with your insurance provider for possible reimbursement.
Is home blood collection available?
Yes, free home sample collection is available for online bookings in Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, Jaipur, and other cities across India.
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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