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DNA Labs India

Comprehensive Ophthalmic Genetic Disorder Panel Test

DNA Labs India | ISO 9001:2015 Certified

Comprehensive Ophthalmic Genetic Disorder Panel Test

Short Name: Ophthalmic Genetic Panel

Also known as: Ophthalmic Genetic Panel, Eye Genetic Disorder Panel, Inherited Eye Disease Panel

Comprehensive Ophthalmic Genetic Disorder Panel Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood samples. Results in 21 Working Days. Free home collection in 300+ cities across India.

NGS Panel🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify the underlying genetic cause of ophthalmic disorders. This can aid in confirming a clinical diagnosis, determining prognosis, guiding management and treatment options, and enabling genetic counseling for at-risk family members. It may also help in identifying candidates for gene-specific clinical trials or emerging therapies.

Test Code
6449
CPT Code
81408
ICD Code
H54.9
Price
₹20,000
Sample Type
Blood
Result Time
21 Working Days
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Inform your doctor about any medications or supplements you are taking.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in your arm. The procedure is quick and routine.

Step 3

Report Delivery

You may resume normal activities immediately. There are no restrictions.

Timeline: 21 Working Days

Patient Instructions

1
Before the Test:No special preparation is required. However, it is advisable to bring any previous eye examination reports or family history information.
2
During the Test:A blood sample is collected by a trained phlebotomist. The process takes about 5 minutes.
3
After the Test:You can resume normal activities. The results will be available in 21 working days and will be communicated via your preferred method.

About This Test

Who Should Get This Test

The purpose of this test is to identify the underlying genetic cause of ophthalmic disorders. This can aid in confirming a clinical diagnosis, determining prognosis, guiding management and treatment options, and enabling genetic counseling for at-risk family members. It may also help in identifying candidates for gene-specific clinical trials or emerging therapies.

How to Prepare

  • No fasting required.
  • Avoid alcohol for 24 hours prior to sample collection.
  • Ensure you have a valid doctor's prescription if required.

Doctor's Notes

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

"Early genetic diagnosis in ophthalmic disorders can guide management, prognosis, and family counseling. This panel covers a wide spectrum of genes associated with inherited eye conditions, enabling precise molecular diagnosis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood
Sample Volume2-3 ml
ContainerEDTA Tube
Collection MethodVenipuncture

Sample Stability

Room temperature24 hours
Refrigerated (2-8°C)72 hours
Frozen (-20°C)1 week
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Incorrect labeling
  • Sample received after prolonged transit time without proper storage

Understanding Your Results

The results of this panel are interpreted by a clinical geneticist. Variants are classified based on ACMG guidelines. A positive result indicates a pathogenic or likely pathogenic variant that explains the clinical presentation. A negative result does not exclude a genetic cause. VUS results require further evaluation.
📊

Positive (Pathogenic/Likely Pathogenic)

Confirms the genetic diagnosis. Genetic counseling is recommended for the patient and family members.

📊

Negative

No disease-causing variants detected. Consider other genetic or non-genetic causes.

📊

Variant of Uncertain Significance (VUS)

A variant with unknown clinical significance. Further testing or family studies may be needed.

⚠️ When to Consult a Doctor:

If you have a family history of inherited eye disease, experience unexplained vision problems, or have received a clinical diagnosis of an ophthalmic disorder, consult an ophthalmologist or geneticist to discuss genetic testing.

Limitations

  • This panel does not detect all possible genetic causes of eye disorders; some genes may not be included.
  • Large deletions/duplications may not be reliably detected by NGS alone.
  • Variants of uncertain significance (VUS) may be reported; further testing may be needed.
  • Negative results do not rule out a genetic cause; other testing may be recommended.

Risks & Considerations

  • Minimal risk of bruising or bleeding at the puncture site
  • Rare risk of infection
  • Psychological impact of genetic results

Interfering Factors

  • Contaminated or hemolyzed blood sample
  • Insufficient DNA quantity or quality
  • Recent blood transfusion (within 2 weeks) may dilute patient DNA
  • Bone marrow transplantation can affect results

Compare With Similar Tests

TestComprehensive Ophthalmic Genetic Disorder PanelSingle Gene TestWhole Exome Sequencing (WES)
ComparisonComprehensive Ophthalmic Genetic Disorder Panel

Frequently Asked Questions

What is the Comprehensive Ophthalmic Genetic Disorder Panel?
It is a genetic test that analyzes multiple genes associated with inherited eye disorders using NGS technology.
What conditions does this panel detect?
It detects mutations associated with retinitis pigmentosa, Leber congenital amaurosis, congenital cataracts, glaucoma, optic atrophy, and macular dystrophies, among others.
Who should consider this test?
Individuals with unexplained vision loss, family history of inherited eye disease, or clinical suspicion of a genetic eye disorder.
What sample is required?
A blood sample (2-3 ml) collected in an EDTA tube.
Is fasting required?
No, fasting is not required for this test.
How long does it take to get results?
Results are typically available within 21 working days.
What is the cost of the test?
The cost is INR 20000, which includes genetic counseling and home sample collection.
Is home sample collection available?
Yes, we offer free home sample collection for online bookings across major cities in India.
Will insurance cover this test?
Insurance coverage varies; we recommend checking with your insurance provider.
What does a positive result mean?
A positive result indicates a pathogenic or likely pathogenic variant that explains the clinical presentation. Genetic counseling is recommended.
What does a negative result mean?
A negative result means no disease-causing variants were detected in the analyzed genes. It does not rule out a genetic cause.
Can this test be done for children?
Yes, the test can be performed on individuals of all ages, including children.
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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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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

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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