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OPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic Test

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OPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic Test

Short Name: OPTN Glaucoma NGS Test

Also known as: OPTN Gene Test, Open Angle Glaucoma Type 1E Genetic Test, OPTN Mutation Analysis

OPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are typically ready in 3 to 4 weeks from sample receipt. In case of complex variants or additional testing, the report may be delayed; you will be notified.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Age Groups🏠 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 NGS genetic test is to detect pathogenic variants in the OPTN gene that cause open-angle glaucoma type 1E. Genetic confirmation helps in establishing the diagnosis, identifying presymptomatic at-risk family members, and guiding clinical management to prevent vision loss.

Test Code
3829
ICD Code
H40.11
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically ready in 3 to 4 weeks from sample receipt. In case of complex variants or additional testing, the report may be delayed; you will be notified.
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No fasting required. Please carry any prior eye examination reports, imaging, or family history documents. A genetic counseling session will be provided to discuss the test and draw a pedigree chart.

Method: Blood draw or FTA card spot

Step 2

Laboratory Analysis

The sample is collected by a trained phlebotomist. For blood sample, a small amount of blood is drawn from the arm. For FTA card, one drop of blood is applied to the card.

Step 3

Report Delivery

You can resume normal activities immediately. The sample will be transported to the laboratory for next-generation sequencing analysis. Reports will be available within 3 to 4 weeks.

Timeline: Reports are typically ready in 3 to 4 weeks from sample receipt. In case of complex variants or additional testing, the report may be delayed; you will be notified.

Patient Instructions

1
Before the Test:Before the test, you will have a genetic counseling session. The counselor will explain the purpose, benefits, limitations, and possible outcomes of the test. You will be asked about your personal and family medical history. Bring any relevant medical records, if available.
2
During the Test:The test involves a simple blood sample collection. If using an FTA card, a fingerstick may be used. There is no pain beyond the usual pinch of a needle. The sample is then sent to the lab for DNA extraction and NGS analysis.
3
After the Test:After the blood draw, you can leave immediately and resume your routine. Your doctor or genetic counselor will contact you to discuss the results once they are ready. The results will also be available via the online portal and by email.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the OPTN gene that cause open-angle glaucoma type 1E. Genetic confirmation helps in establishing the diagnosis, identifying presymptomatic at-risk family members, and guiding clinical management to prevent vision loss.

How to Prepare

  • Blood or extracted DNA sample preferred
  • One drop of blood on FTA card accepted for remote locations
  • Use an EDTA tube for blood collection
  • Avoid sample contamination
  • Label the sample with patient name, unique ID, and date

Doctor's Notes

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

"Early detection of OPTN gene mutations through NGS can significantly improve visual outcomes and help prevent irreversible vision loss in families with open angle glaucoma type 1E."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 ml
ContainerEDTA tube / FTA card
Collection MethodBlood draw or FTA card spot

Sample Stability

EDTA BloodUp to 72 hours
Extracted DNA6 months
FTA Card1 year
Sample Rejection Criteria:
  • Haemolysed blood sample
  • Insufficient quantity (blood volume less than 1 ml)
  • Improperly labelled sample
  • Sample received in a heparinised (green top) tube
  • Sample exposed to extreme temperature

Understanding Your Results

The interpretation of this genetic test is based on the detection of pathogenic or likely pathogenic variants in the OPTN gene and correlation with the clinical presentation. The report includes a clear classification of any variants found.
📊

Pathogenic variant detected

Confirms diagnosis of open-angle glaucoma type 1E. Family members should be offered predictive testing.

📊

Likely pathogenic variant detected

Strongly suggests the diagnosis; further confirmatory evidence may be needed. Surveillance is recommended.

📊

Variant of uncertain significance (VUS)

The variant has unknown clinical significance. Family segregation studies may help clarify its role.

📊

No pathogenic variants detected

Negative result; does not rule out all forms of glaucoma. Clinical diagnosis remains based on ophthalmological evaluation.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist or geneticist if you have glaucoma symptoms, a family history of glaucoma, or if you have already been diagnosed with open-angle glaucoma and wish to know the genetic cause. Early consultation can prevent irreversible vision loss.

Limitations

  • ⚠This NGS test may not detect large gene rearrangements, copy number variations, deep intronic variants, or variants in regulatory regions
  • ⚠Mutations in other genes (e.g., MYOC, CYP1B1, FOXC1) are not analyzed by this targeted test
  • ⚠A negative result does not exclude all forms of glaucoma, and clinical correlation is mandatory
  • ⚠Results should not be used alone for treatment decisions; a comprehensive eye exam and ophthalmic evaluation are necessary

Risks & Considerations

  • ●No significant physical risks; bruising or pain at the venipuncture site may occur
  • ●Psychological impact of knowing genetic test results
  • ●Risk of genetic discrimination if results are misused (though rare in India due to lack of legal protection, data confidentiality is maintained)

Interfering Factors

  • ●Presence of a bone marrow transplant or recent blood transfusion can affect DNA analysis
  • ●Contamination during sample collection may lead to mixed signals
  • ●Other genetic variants in the OPTN gene of uncertain significance may require family studies

Compare With Similar Tests

TestOPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic TestOPTN Gene NGS TestComprehensive Glaucoma NGS PanelSanger Sequencing for OPTN
ComparisonOPTN Gene Glaucoma, Open Angle Type 1E NGS Genetic Test

Frequently Asked Questions

What is OPTN gene glaucoma open angle type 1E?
OPTN gene glaucoma, open angle type 1E, is a hereditary form of open-angle glaucoma caused by mutations in the OPTN gene. It leads to progressive optic nerve damage and visual field loss. Early genetic testing can help identify at-risk individuals before symptoms worsen.
What are the symptoms of open angle type 1E glaucoma?
Common symptoms include gradual loss of peripheral vision, tunnel vision in advanced stages, blurred vision, halos around lights, and eye pain. However, the condition can be asymptomatic in early stages, making regular eye exams essential.
How is the NGS genetic test for OPTN gene glaucoma performed?
The test uses Next-Generation Sequencing (NGS) technology. A blood sample is obtained from the patient, DNA is extracted, the OPTN gene is enriched and sequenced, and the data is analyzed for pathogenic variants. The test provides a comprehensive analysis of the gene's coding regions.
Do I need to fast before the test?
No, fasting is not required for this genetic test. You can eat and drink normally before providing a blood sample.
What is the turnaround time for the report?
The report is typically delivered within 3 to 4 weeks from the date the sample is received by the laboratory.
What is the cost of the OPTN gene glaucoma NGS test?
The cost of the test is INR 20,000. This includes home sample collection, genetic counseling, and the clinical report. Raw data files (FASTQ, VCF) are also provided to the patient for transparency.
What type of sample is required?
The sample can be blood (EDTA tube), extracted DNA (if already available), or one drop of blood on an FTA card. Home collection is available in many cities across India.
Will I get raw data files (FASTQ and VCF)?
Yes, DNA Labs India is transparent and provides raw data files (FASTQ and VCF) along with the conclusive clinical report. This allows patients or second opinion labs to review the primary data.
Who should take this test?
This test is recommended for individuals with a clinical suspicion of open-angle glaucoma type 1E, those with a family history of the disease, patients with early-onset or atypical glaucoma, and individuals considering genetic counseling or family planning.
Does insurance cover this test?
This test is generally not covered by standard insurance policies in India. However, some private insurers may cover genetic testing for clinical necessity. It is best to check with your insurance provider. DNA Labs India does not directly bill insurance.
Are there any risks or limitations?
The physical risk is minimal, like any blood draw. Limitations include that the test may not detect all types of mutations (e.g., large deletions, deep intronic variants) and that a negative result does not rule out glaucoma from other genes. Genetic counseling is recommended to interpret results accurately.
How do I interpret my results?
Your report will classify variants as pathogenic, likely pathogenic, variant of uncertain significance, or negative. A genetic counselor or physician will explain what the finding means for your diagnosis, treatment, and family members.
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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