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PITX3 Gene Anterior segment mesenchymal dysgenesis NGS Genetic Test

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PITX3 Gene Anterior segment mesenchymal dysgenesis NGS Genetic Test

Short Name: PITX3 Gene ASMD NGS Test

PITX3 Gene Anterior segment mesenchymal dysgenesis NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

PediatricsPediatric🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 3, 2026

Overview

The purpose of this test is to diagnose Anterior Segment Mesenchymal Dysgenesis (ASMD) by detecting mutations in the PITX3 gene using Next-Generation Sequencing (NGS). Early diagnosis allows for timely intervention, better management of symptoms, and informed genetic counseling for affected individuals and their families.

Test Code
5651
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

Provide clinical history and undergo genetic counseling session to draw a pedigree chart of family members affected with ASMD.

Step 2

Laboratory Analysis

Standard blood sample collection or DNA extraction procedure.

Step 3

Report Delivery

Sample is sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation recommended to assess symptoms and family history.
2
During the Test:Blood sample collection or DNA extraction performed by trained personnel.
3
After the Test:Results available in 3-4 weeks; consult with a geneticist or ophthalmologist for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose Anterior Segment Mesenchymal Dysgenesis (ASMD) by detecting mutations in the PITX3 gene using Next-Generation Sequencing (NGS). Early diagnosis allows for timely intervention, better management of symptoms, and informed genetic counseling for affected individuals and their families.

How to Prepare

  • Blood sample collection
  • Extracted DNA submission
  • One drop of blood on FTA Card

Doctor's Notes

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

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card

Understanding Your Results

Results indicate the presence or absence of mutations in the PITX3 gene associated with Anterior Segment Mesenchymal Dysgenesis (ASMD).
Positive: Pathogenic variant detected in PITX3 gene, consistent with ASMD diagnosis.
Negative: No pathogenic variants detected in PITX3 gene.
Variant of uncertain significance: Further testing or clinical correlation may be required.
⚠️ When to Consult a Doctor:

If symptoms of ASMD are present, such as cloudy cornea, aniridia, cataracts, or glaucoma, or if there is a family history of the disorder.

Risks & Considerations

  • ●Minor bruising or infection at the blood draw site

Frequently Asked Questions

What is Anterior Segment Mesenchymal Dysgenesis (ASMD)?
ASMD is a rare genetic eye disorder that affects the development of the anterior segment of the eye, including the cornea, iris, and lens, often caused by mutations in the PITX3 gene.
What causes ASMD?
ASMD is primarily caused by mutations in the PITX3 gene, which plays a crucial role in eye development during embryonic stages.
What are the symptoms of ASMD?
Symptoms include cloudy or opaque cornea, aniridia (absence of the iris), cataracts, and glaucoma, which can lead to vision impairment.
How is ASMD diagnosed?
ASMD is diagnosed through clinical examination, family history assessment, and genetic testing such as the NGS Genetic Test for PITX3 gene mutations.
What is the PITX3 gene?
The PITX3 gene is involved in the development of the eye's anterior segment; mutations in this gene are associated with ASMD and other eye disorders.
What does the NGS Genetic Test involve?
The test uses Next-Generation Sequencing to analyze the PITX3 gene for mutations from a blood sample, extracted DNA, or FTA card.
How accurate is the NGS Genetic Test for ASMD?
The test is highly accurate in detecting mutations in the PITX3 gene, providing reliable confirmation for ASMD diagnosis.
What is the cost of the test?
The cost of the NGS Genetic Test for ASMD is INR 20,000, which includes sample collection, DNA extraction, sequencing, and analysis.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test is positive?
If positive, consult with a geneticist or ophthalmologist for further evaluation, management options, and genetic counseling.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand the implications, guide treatment, and discuss family planning.
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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