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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 NGS Genetic Test

Also known as: PITX3 Gene Mutation Analysis, ASMD Genetic Test, Anterior Segment Mesenchymal Dysgenesis NGS Test

PITX3 Gene Anterior Segment Mesenchymal Dysgenesis 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 TestAll Ages🏠 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 identify mutations in the PITX3 gene in individuals with clinical features suggestive of anterior segment mesenchymal dysgenesis. It provides a molecular diagnosis, assists in recurrence risk counseling, and helps guide clinical monitoring for associated ocular complications such as glaucoma and cataracts.

Test Code
3767
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

No special preparation is required. Clinical history and family pedigree information should be provided before the test.

Method: Blood draw or FTA card spot or DNA submission

Step 2

Laboratory Analysis

A qualified phlebotomist will collect a blood sample, or a blood spot may be placed on an FTA card, depending on the chosen test kit.

Step 3

Report Delivery

You may resume normal activities immediately after sample collection. No specific post-collection precautions are needed.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:No special preparation is required. Arrange the patient's clinical history and any available family pedigree before sample collection.
2
During the Test:A trained professional will collect blood in an EDTA tube or prepare an FTA card blood spot. The procedure is quick and generally painless.
3
After the Test:You can resume normal daily activities immediately. The laboratory will process the sample and share the report within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify mutations in the PITX3 gene in individuals with clinical features suggestive of anterior segment mesenchymal dysgenesis. It provides a molecular diagnosis, assists in recurrence risk counseling, and helps guide clinical monitoring for associated ocular complications such as glaucoma and cataracts.

How to Prepare

  • No fasting required
  • Provide clinical history and family pedigree before sample collection
  • Use an EDTA vial for whole blood or FTA card for dried blood spot
  • Label the sample with full name, date of birth, and collection date

Doctor's Notes

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

"Clinically, anterior segment findings can be subtle in early childhood. A molecular diagnosis of PITX3-related ASMD helps ophthalmologists anticipate cataract surgery outcomes, monitor for glaucoma, and offer clear recurrence-risk counseling to the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory instruction
ContainerEDTA vial / FTA card / DNA collection tube
Collection MethodBlood draw or FTA card spot or DNA submission

Sample Stability

Whole blood at 2-8°C: up to 72 hours
FTA card at room temperature: stable for several weeks
Extracted DNA at -20°C: long-term storage recommended
Sample Rejection Criteria:
  • Sample tube not labeled properly
  • Insufficient blood volume or DNA concentration
  • Sample received in incorrect anticoagulant tube
  • Clinical history and consent not provided
  • Suspected sample degradation

Understanding Your Results

This NGS-based test examines the PITX3 gene for variants that may explain a clinical diagnosis of ASMD. Detected variants are classified using standard medical genetics guidelines, and the clinical report includes an interpretation relevant to the patient's ocular phenotype and family history.
📊

Positive for a pathogenic/likely pathogenic PITX3 variant

Consistent with a molecular diagnosis of PITX3-related anterior segment mesenchymal dysgenesis.

📊

Negative: no pathogenic variant detected

Reduced likelihood of PITX3-related ASMD; other genetic causes should be considered.

📊

Variant of uncertain significance (VUS)

Insufficient evidence to determine clinical significance; additional family testing may be recommended.

📊

Benign/likely benign variant

Not considered disease-causing.

⚠️ When to Consult a Doctor:

If the test identifies a pathogenic or likely pathogenic PITX3 variant, consult a clinical geneticist and an ophthalmologist to discuss surveillance, treatment, and family testing. If a variant of uncertain significance is found, follow up with genetic counseling and segregation studies in family members.

Limitations

  • ⚠This test is limited to the PITX3 gene and may not detect mutations in other genes associated with anterior segment dysgenesis
  • ⚠Large structural rearrangements, copy number variants, and deep intronic mutations may not be detected by this NGS assay
  • ⚠Variants of uncertain significance may require additional family studies and functional evidence

Risks & Considerations

  • ●Minor bruising at the blood collection site
  • ●Dizziness or lightheadedness during blood draw
  • ●Rare risk of local infection

Interfering Factors

  • ●Low-quality or degraded DNA may reduce assay sensitivity
  • ●Variants in pseudogenes or highly homologous regions may complicate sequencing
  • ●Incomplete clinical information may limit variant interpretation
  • ●Rare intronic or regulatory variants may not be detected by standard exonic NGS

Frequently Asked Questions

What is anterior segment mesenchymal dysgenesis (ASMD)?
ASMD is a rare genetic condition affecting the development of the anterior part of the eye. It may include cataracts, glaucoma, corneal abnormalities, iris hypoplasia, nystagmus and reduced visual acuity. The severity varies among affected individuals.
What is the PITX3 gene?
The PITX3 gene provides instructions for a transcription factor involved in lens and eye development. Mutations in PITX3 can disrupt anterior segment development and lead to ASMD.
How is the PITX3 NGS genetic test performed?
A blood sample, extracted DNA, or FTA card blood spot is collected. In the laboratory, next-generation sequencing is used to analyze the PITX3 gene for pathogenic or likely pathogenic variants.
What is the cost of the test?
DNA Labs India offers the PITX3 gene NGS genetic test at a discounted price of INR 20,000. Free home sample collection is included for online bookings across many cities in India.
What sample type is required?
The test can be performed on blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast?
No, fasting is not required for this genetic test.
When will I get the report?
The clinical report and associated data files are generally delivered in 3 to 4 weeks.
Will I receive raw data, FASTQ and VCF files?
Yes. DNA Labs India provides raw data, FASTQ and VCF files along with the conclusive clinical report at no extra cost.
Who should consider this test?
Individuals with clinical features suggestive of ASMD, family members of a person with a PITX3 mutation, and couples seeking reproductive risk information may consider this test after genetic counseling.
What do positive or negative results mean?
A pathogenic or likely pathogenic variant supports a genetic diagnosis of PITX3-related ASMD. A negative result does not exclude all genetic causes of ASMD, and variants of uncertain significance may require further testing.
Does this test detect all causes of ASMD?
No. This test analyzes only the PITX3 gene. Other genes can also cause anterior segment dysgenesis; broader multigene panels or exome sequencing may be needed.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in multiple cities across India. The sample is collected by a qualified phlebotomist.
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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