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PXDN Gene Corneal Opacification and Other Ocular Anomalies NGS Genetic Test

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PXDN Gene Corneal Opacification and Other Ocular Anomalies NGS Genetic Test

Short Name: PXDN Gene Test for Corneal Opacification

Also known as: PXDN Genetic Analysis, Corneal Opacification NGS Panel

PXDN Gene Corneal Opacification and Other Ocular Anomalies 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 this test is to detect genetic mutations in the PXDN gene that cause corneal opacification and other ocular anomalies, aiding in accurate diagnosis, genetic counseling, risk assessment, and personalized management of ocular conditions.

Test Code
1477
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Undergo genetic counseling to discuss family history and implications; provide detailed clinical history and pedigree chart.

Method: Venipuncture or blood spot

Step 2

Laboratory Analysis

Sample collection by trained phlebotomist using sterile techniques; blood draw from vein or FTA card preparation.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for analysis; maintain proper documentation.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to assess risk, discuss implications, and obtain informed consent; provide family pedigree and clinical history.
2
During the Test:Blood sample collection at home or in a laboratory; minimal discomfort during venipuncture or blood spot collection.
3
After the Test:Wait for 3-4 weeks for results; schedule follow-up with geneticist or ophthalmologist to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect genetic mutations in the PXDN gene that cause corneal opacification and other ocular anomalies, aiding in accurate diagnosis, genetic counseling, risk assessment, and personalized management of ocular conditions.

How to Prepare

  • Avoid eating or drinking for a specified period if advised during counseling
  • Ensure proper labeling of sample with patient details
  • Use sterile collection equipment to prevent contamination
  • Handle FTA card samples as per protocol

Doctor's Notes

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

"Genetic testing for PXDN mutations is crucial for early diagnosis and management of corneal opacification and associated ocular anomalies."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or blood spot

Sample Stability

Blood samples in EDTA tubes are stable for 48 hours at room temperature
FTA card samples are stable at room temperature for extended periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed, clotted, or contaminated samples
  • Improperly labeled or insufficient sample volume
  • Samples not stored according to stability guidelines

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the PXDN gene, which can confirm a genetic cause for corneal opacification and related ocular anomalies.
Positive Result: Pathogenic variant detected – confirms genetic etiology; recommend genetic counseling and management planning
Negative Result: No pathogenic variants detected – may indicate other causes; consider further testing or clinical evaluation
Variant of Uncertain Significance (VUS) – requires genetic counseling and possible family studies for clarification
⚠️ When to Consult a Doctor:

Consult a geneticist or ophthalmologist if you experience persistent ocular symptoms, have a family history of eye disorders, or need guidance on test results and management options.

Limitations

  • ⚠May not detect all types of genetic mutations (e.g., large deletions)
  • ⚠Requires genetic counseling for proper interpretation of results
  • ⚠Results may have psychological or familial implications
  • ⚠Does not replace comprehensive ophthalmic examination

Risks & Considerations

  • ●Minimal physical risk from blood draw (e.g., bruising, infection)
  • ●Emotional or psychological impact of test results
  • ●Potential for uncertain results requiring further investigation

Interfering Factors

  • ●Poor sample quality or contamination
  • ●Technical errors during sequencing
  • ●Presence of variants of uncertain significance requiring further analysis

Compare With Similar Tests

TestPXDN Gene Corneal Opacification and Other Ocular Anomalies NGS Genetic TestCorneal Dystrophy Genetic TestComprehensive Ophthalmic Gene PanelGlaucoma Genetic Panel
ComparisonPXDN Gene Corneal Opacification and Other Ocular Anomalies NGS Genetic Test

Frequently Asked Questions

What is the PXDN Gene Corneal Opacification Test?
This is an NGS genetic test that identifies mutations in the PXDN gene, which can cause corneal clouding and other ocular anomalies.
Why is this test important for ocular health?
It helps diagnose the genetic cause of corneal opacification, enabling early intervention, personalized treatment, and genetic counseling for affected individuals and families.
How is the test performed?
A blood sample or DNA extract is collected, often at home, and analyzed using next-generation sequencing to detect PXDN gene mutations.
What is the cost of the test?
The test costs INR 20,000, which includes home collection, genetic counseling, and a detailed report.
Is home sample collection available?
Yes, free home sample collection is available across many cities in India for online bookings.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
Most insurance plans cover genetic testing, but it is advisable to check with your provider for specific coverage.
What are the symptoms that may indicate the need for this test?
Symptoms include cloudy or hazy vision, blurred vision, double vision, light sensitivity, eye pain, and difficulty seeing at night.
How accurate is the NGS technology used?
NGS provides high accuracy in detecting genetic mutations, but results should be interpreted in conjunction with clinical findings and genetic counseling.
Can children undergo this test?
Yes, the test is suitable for all ages, but genetic counseling is recommended before testing minors.
What happens if the test result is positive?
A positive result confirms a genetic mutation; you should consult a geneticist and ophthalmologist for management planning and family risk assessment.
How should I prepare for the test?
Undergo genetic counseling, provide detailed medical history and family pedigree, and follow any specific instructions from the lab or counselor.
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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