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DNA Labs India

ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic Test

Short Name: ABCA4 CRD3 NGS Test

Also known as: Cone-Rod Dystrophy Type 3 Genetic Test, ABCA4 Gene Mutation Test, Retinal Dystrophy ABCA4 NGS

ABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)🏠 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

To confirm the clinical diagnosis of cone-rod dystrophy type 3 by identifying pathogenic variants in the ABCA4 gene, to provide molecular evidence for genetic counseling, and to guide potential treatment and surveillance strategies.

Test Code
3824
ICD Code
H35.54
Price
₹20,000
Sample Type
Blood
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation is required. Please carry a valid government ID for verification.

Method: Venipuncture

Step 2

Laboratory Analysis

A standard blood sample (approximately 3 mL) will be drawn from a vein in your arm by a trained phlebotomist.

Step 3

Report Delivery

You may resume normal activities immediately after the blood draw. Apply pressure on the puncture site for 1-2 minutes to prevent bruising.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:No special preparation needed. A genetic counseling session will be arranged to discuss the purpose, implications, and limitations of the test.
2
During the Test:The procedure is a simple blood draw and takes about 5-10 minutes.
3
After the Test:You will be informed when the report is ready. Results are typically available within 3-4 weeks and will be shared via email or online portal.

About This Test

Who Should Get This Test

To confirm the clinical diagnosis of cone-rod dystrophy type 3 by identifying pathogenic variants in the ABCA4 gene, to provide molecular evidence for genetic counseling, and to guide potential treatment and surveillance strategies.

How to Prepare

  • Inform the lab if you have received a blood transfusion or bone marrow transplant in the past 6 months
  • Ensure the blood collection tube is properly labeled with your name and date of birth
  • For home collection, keep the sample at room temperature until the phlebotomist arrives
  • Carry a copy of the test requisition form provided by DNA Labs India or your doctor

Doctor's Notes

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

"A positive ABCA4 result helps in family planning, genetic counseling, and early visual rehabilitation. Confirmatory genetic testing is recommended before invasive interventions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume3 mL
ContainerEDTA (lavender top) tube
Collection MethodVenipuncture

Sample Stability

Whole blood: 24 hours at room temperature (15–25°C)
Whole blood: 7 days at 2–8°C
Whole blood: up to 6 months at -20°C
Sample Rejection Criteria:
  • Hemolyzed or severely clotted specimen
  • Insufficient sample volume
  • Improperly labeled or unlabeled sample
  • Sample received beyond the acceptable storage time

Understanding Your Results

This test is designed to detect germline variants in the ABCA4 gene. Results are interpreted by a clinical geneticist and reported with variant classification based on ACMG guidelines.
📊

Pathogenic or Likely Pathogenic variant detected

Confirms the genetic diagnosis of ABCA4-related cone-rod dystrophy type 3. Clinical correlation and family screening are recommended.

📊

Variant of Uncertain Significance (VUS)

A DNA change was found, but its association with disease is unclear. Additional family studies or functional analysis may be needed.

📊

No pathogenic variants detected

Reduces the likelihood of ABCA4-related disease but does not completely exclude it. Consider other genetic causes if clinical suspicion remains high.

📊

Benign or Likely Benign variant detected

The variant is not considered disease-causing and does not explain the clinical condition.

⚠️ When to Consult a Doctor:

If a pathogenic or likely pathogenic variant is identified, or if the result is inconclusive, consult your ophthalmologist and genetic counselor for further recommendations.

Limitations

  • ⚠NGS may not reliably detect large structural rearrangements, inversions, or repeat expansions in the ABCA4 gene
  • ⚠This test covers only the ABCA4 gene; other genes causing cone-rod dystrophy are not analyzed
  • ⚠Results of uncertain significance may require familial segregation analysis or functional studies for interpretation
  • ⚠This test is not intended for prenatal diagnosis or direct-to-consumer use without clinical context

Risks & Considerations

  • ●Slight pain or bruising at the puncture site
  • ●Localized infection (very rare, as sterile technique is used)
  • ●Feeling lightheaded during blood draw

Interfering Factors

  • ●Recent allogeneic bone marrow transplantation may cause mixed DNA results
  • ●Presence of benign polymorphisms that are reported as variants of uncertain significance (VUS)
  • ●Incomplete NGS coverage in GC-rich regions may affect variant detection
  • ●Very rare large deletions or duplications may not be detected by standard NGS

Compare With Similar Tests

TestABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic TestStargardt Disease Genetic TestRetinitis Pigmentosa NGS PanelRetinal Dystrophy Gene PanelUsher Syndrome Genetic Panel
ComparisonABCA4 Gene Cone-Rod Dystrophy Type 3 NGS Genetic Test

Frequently Asked Questions

What is ABCA4 gene Cone-Rod Dystrophy Type 3?
Cone-Rod Dystrophy Type 3 (CRD3) is an inherited retinal disorder caused by mutations in the ABCA4 gene. It leads to progressive degeneration of cone and rod photoreceptors, resulting in early vision loss, color vision abnormalities, and night blindness.
Why is this genetic test recommended?
This test is recommended to confirm a diagnosis of cone-rod dystrophy type 3 in individuals with suggestive clinical features, family history, or abnormal electroretinogram, and to identify the genetic cause for counseling and potential future therapies.
What is the cost of the ABCA4 gene cone-rod dystrophy type 3 NGS genetic test?
The test is priced at Rs 20000 (INR 20000) at DNA Labs India, which includes free home blood sample collection and genetic counseling.
What sample is required for the test?
A blood sample (about 3 mL) is required. It can be collected at home or at a DNA Labs India collection center.
How long does it take to get the report?
The turnaround time is 3 to 4 weeks from the time the sample reaches the lab.
Does this test detect all mutations in the ABCA4 gene?
The NGS method covers the full coding region and splice sites of the ABCA4 gene. However, large deletions or complex rearrangements may require additional testing.
What do the test results mean?
The test will report variants as pathogenic, likely pathogenic, variant of uncertain significance, benign, or likely benign, based on ACMG guidelines. A pathogenic/likely pathogenic variant confirms the genetic diagnosis.
Can I have this test if I don't have symptoms but have a family history?
Yes, predictive testing for asymptomatic individuals with a family history of ABCA4-related CRD can be done with proper genetic counseling.
Is genetic counseling included?
Yes, as part of the pre-test procedure, a genetic counseling session is arranged to draw a family pedigree and explain the implications of the results.
Is the test covered by insurance?
Generally, this genetic test is not covered by government schemes like PMJAY or CGHS. Private insurance may cover it partially depending on the policy; please check with your provider.
In which cities is home sample collection available?
We offer free home sample collection across all major cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, Pune, and many others on our list.
How should I prepare for the test?
No special preparation such as fasting is required. You can eat and drink normally. Just carry a valid government ID for verification.
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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For Hospitals & Clinics

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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.

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