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DNA Labs India

Nx Gen Sequencing: Optic Atrophy Test

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Nx Gen Sequencing: Optic Atrophy Test

Short Name: Optic Atrophy Genetic Test

Also known as: Genetic Test for Optic Atrophy, Nx Gen Sequencing Optic Neuropathy

Nx Gen Sequencing: Optic Atrophy Test test available at DNA Labs India for ₹28,665. Uses NGS, Sanger sequencing on Whole Blood samples. Results in Report available in 45 days from sample receipt.. Free home collection in 300+ cities across India.

Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the Nx Gen Sequencing: Optic Atrophy Test is to identify genetic mutations or abnormalities that may be causing optic atrophy. This helps in accurate diagnosis, guiding treatment and management options, and assessing risks for family members who may be at risk for hereditary optic neuropathies.

Test Code
1349
Price
₹28,665
Sample Type
Whole Blood
Result Time
Report available in 45 days from sample receipt.
Fasting Required
No
Method
NGS, Sanger sequencing
Step 1

Sample Collection

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure via venipuncture.

Step 3

Report Delivery

Ship refrigerated. DO NOT FREEZE.

Timeline: Report available in 45 days from sample receipt.

Patient Instructions

1
Before the Test:Ensure the Whole Exome Sequencing Consent Form (Form 37) is duly filled and signed.
2
During the Test:A blood sample will be collected from a vein in your arm.
3
After the Test:Apply pressure to the collection site to prevent bleeding. Results will be available in 45 days.

About This Test

Who Should Get This Test

The purpose of the Nx Gen Sequencing: Optic Atrophy Test is to identify genetic mutations or abnormalities that may be causing optic atrophy. This helps in accurate diagnosis, guiding treatment and management options, and assessing risks for family members who may be at risk for hereditary optic neuropathies.

How to Prepare

  • Submit 10 mL (5 mL min.) whole blood from 2 Lavender Top (EDTA) tubes.
  • Ship refrigerated.
  • DO NOT FREEZE.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"Genetic testing for optic atrophy can provide definitive diagnosis and guide family counseling and treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeWhole Blood
Sample Volume10 mL (5 mL min.)
ContainerLavender Top (EDTA) tubes
Collection MethodVenipuncture

Sample Stability

Room Temperature: 6 hrs
Refrigerator: 72 hrs
Frozen: NA
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed sample
  • Missing or incomplete consent form
  • Improper storage or shipping

Understanding Your Results

Results indicate the presence or absence of genetic mutations associated with optic atrophy. A positive result identifies pathogenic variants, guiding further clinical management.
📊

No pathogenic variant detected

No known genetic mutations associated with optic atrophy identified. Clinical correlation recommended.

📊

Pathogenic variant detected

Genetic mutation identified that may cause optic atrophy. Consult with a geneticist or ophthalmologist for management and family counseling.

⚠️ When to Consult a Doctor:

If genetic mutations are detected or if symptoms persist despite negative results, consult with a geneticist or ophthalmologist for personalized advice and management.

Limitations

  • ⚠May not detect all genetic variants or novel mutations
  • ⚠Requires duly filled consent form
  • ⚠Results take up to 45 days

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection

Interfering Factors

  • ●Sample quality issues
  • ●Contamination
  • ●Improper sample handling

Compare With Similar Tests

TestNx Gen Sequencing: Optic Atrophy Test
ComparisonNx Gen Sequencing: Optic Atrophy Test

Frequently Asked Questions

What is optic atrophy?
Optic atrophy is a condition where the optic nerve, which transmits visual information from the eye to the brain, is damaged, leading to vision loss.
What causes optic atrophy?
Optic atrophy can be caused by genetic mutations, trauma, inflammation, or other medical conditions affecting the optic nerve.
How is optic atrophy diagnosed?
Diagnosis involves a comprehensive eye exam, visual field tests, OCT, MRI, or CT scans. Genetic testing may be recommended if other tests are inconclusive.
What is Nx Gen Sequencing?
Nx Gen Sequencing is a genetic testing method that sequences DNA to identify mutations or abnormalities linked to optic atrophy.
What genes are tested in this test?
This test analyzes genes including ACO2, AFG3L2, C12ORF65, CISD2, MFN2, NR2F1, OPA1, OPA3, SLC25A46, SPG7, TIMM8A, TMEM126A, and WFS1.
How long does it take to get results?
Results are typically available within 45 days from sample collection.
Is home sample collection available?
Yes, free home sample collection is offered across India for online bookings.
What is the cost of the test?
The cost is INR 28665, which includes sample collection and testing.
Is the test painful?
The test involves a standard blood draw, which may cause minor discomfort but is generally well-tolerated.
Can genetic testing help in treatment?
Yes, identifying genetic mutations can guide treatment options, management strategies, and family counseling.
Are there any risks associated with the test?
Risks are minimal and similar to routine blood draws, such as bruising or slight discomfort.
How should I prepare for the test?
Ensure you have filled the required consent form (Form 37) and follow sample collection instructions.
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

Reference Laboratory Services

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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