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PITX3 Gene Cataract 11, Multiple Types NGS Genetic Test

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PITX3 Gene Cataract 11, Multiple Types NGS Genetic Test

Short Name: PITX3 Gene Cataract NGS

Also known as: PITX3-related Cataract, Cataract 11 Multiple Types, PITX3 gene mutation analysis

PITX3 Gene Cataract 11, Multiple Types 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 The processed time for PITX3 gene NGS test is 3 to 4 weeks from sample received at laboratory. Some cases with complex variants may require additional time for confirmation.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 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 the PITX3 Gene Cataract 11 NGS Genetic Test is to identify pathological mutations in the PITX3 gene that cause Cataract 11, Multiple Types. This testing aids in confirming clinical diagnosis, presymptomatic testing in family members, genetic counseling, and reproductive risk assessment. Early molecular diagnosis helps in preventing amblyopia by timely surgery and facilitates lifelong visual prognosis planning.

Test Code
3778
ICD Code
H26.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The processed time for PITX3 gene NGS test is 3 to 4 weeks from sample received at laboratory. Some cases with complex variants may require additional time for confirmation.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No special preparation is required. Patient and family history as well as pedigree drawing will be done during genetic counselling session.

Method: Peripheral blood draw or FTA card spot

Step 2

Laboratory Analysis

A simple peripheral blood sample collected by a trained phlebotomist or a few drops of blood on an FTA card. For FTA card, each drop should be applied to marked circles and allowed to air dry.

Step 3

Report Delivery

Blood sample vial should be inverted gently. FTA card should be placed in the provided pouch and stored at room temperature. You can leave the collection site; apply pressure if needed.

Timeline: The processed time for PITX3 gene NGS test is 3 to 4 weeks from sample received at laboratory. Some cases with complex variants may require additional time for confirmation.

Patient Instructions

1
Before the Test:You will have a genetic counselling session to understand the implications of testing, family pedigree, benefits, and limitations. No dietary restrictions are needed.
2
During the Test:A trained technician will collect your blood sample or FTA card spot. For FTA card, only a needle-prick finger is needed. The procedure is quick and painless.
3
After the Test:You can resume normal activities immediately. results are typically available in 3-4 weeks. A genetic counselor will discuss the report and clinical implications with you.

About This Test

Who Should Get This Test

The purpose of the PITX3 Gene Cataract 11 NGS Genetic Test is to identify pathological mutations in the PITX3 gene that cause Cataract 11, Multiple Types. This testing aids in confirming clinical diagnosis, presymptomatic testing in family members, genetic counseling, and reproductive risk assessment. Early molecular diagnosis helps in preventing amblyopia by timely surgery and facilitates lifelong visual prognosis planning.

How to Prepare

  • Blood sample should be collected in EDTA vacutainer (2-3 mL) for NGS analysis
  • If using FTA card, apply exactly one drop per circle and air dry completely without any heat or UV exposure
  • Label the sample with patient's name, date of birth, and collection date
  • Samples should be transported to laboratory within 24-48 hours; avoid extreme temperatures

Doctor's Notes

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

"Genetic testing for PITX3 gene mutations is crucial for early diagnosis of inherited cataracts, enabling timely surgical and therapeutic interventions."

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 blood or one drop on FTA card
ContainerEDTA tube / FTA card
Collection MethodPeripheral blood draw or FTA card spot

Sample Stability

Whole blood (EDTA): 3-5 days at 2-8°C
Extracted DNA: 12 months at -20°C
FTA card: 6 months at room temperature
Sample Rejection Criteria:
  • Hemolyzed blood sample
  • FTA card with overlapping samples or insufficient blood spots
  • Sample received without proper labeling or requisition form
  • Sample leaking during transport

Understanding Your Results

This NGS genetic test detects pathogenic variants in the PITX3 gene linked to Cataract 11, Multiple Types. Results are interpreted by clinical geneticists and reported with clear clinical actionability.
📊

No pathogenic or likely pathogenic variants found in PITX3. A negative result does not exclude a genetic cause; other genes may be involved.

📊

A pathogenic or likely pathogenic variant was identified, confirming genetic diagnosis. Family members may be at risk.

📊

A genetic change of unknown effect was found. Further family testing and functional studies are recommended.

⚠️ When to Consult a Doctor:

Consult an ophthalmologist and geneticist if your child has clouding of the lens, poor visual tracking, or known family history of cataract. Genetic testing should be considered after clinical examination and before surgical management.

Limitations

  • ⚠NGS analysis covers coding exons and splice sites of PITX3; deep intronic variants may be missed
  • ⚠Large structural rearrangements and copy number changes may not be detected
  • ⚠This test cannot diagnose age-related cataracts or those caused by other genes
  • ⚠Variants of uncertain significance (VUS) require further family segregation studies
  • ⚠Genetic testing may yield incidental findings outside the PITX3 gene if panel-based analysis is used

Risks & Considerations

  • ●No significant risks from blood draw. Possible minor bruising or infection at puncture site which is rare.
  • ●FTA card collection may cause slight pain at finger prick site.
  • ●Emotional distress due to unexpected genetic findings.

Interfering Factors

  • ●Contamination of sample with maternal cells
  • ●DNA degradation due to improper storage or transport
  • ●Insufficient quantity of extracted DNA
  • ●Presence of large deletions/duplications not detected by standard NGS

Compare With Similar Tests

TestPITX3 Gene Cataract 11, Multiple Types NGS Genetic Test
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Frequently Asked Questions

What is the cost of the PITX3 Gene Cataract 11 NGS test at DNA Labs India?
The test costs INR 20,000 (Rs 20,000) including free home sample collection across India.
What is PITX3 Gene Cataract 11?
It is a rare inherited form of cataract caused by mutations in the PITX3 gene, affecting lens during development and leading to early infantile/childhood cataracts.
What type of sample is required?
You can provide a blood sample (EDTA tube), extracted DNA, or one drop of blood on an FTA card. We recommend blood or FTA card for convenience.
Do I need to fast before the test?
No, this genetic test does not require fasting. You can eat and drink normally before sample collection.
How long does it take to get results?
The test results are available in 3 to 4 weeks from the date of sample reception at the laboratory.
What does the NGS genetic test measure?
It detects mutations in the PITX3 gene using Next Generation Sequencing, covering all coding exons and splice sites that cause Cataract 11, Multiple Types.
Will the test detect all types of cataracts?
No, this test specifically targets the PITX3 gene. Other genetic causes of cataract will not be evaluated unless a broader panel is chosen.
Can I get the raw data with my report?
Yes, at DNA Labs India we are transparent and provide Raw Data, FASTQ, and VCF files along with the clinical report for every genetic test.
Is home sample collection available in my city?
We offer free home sample collection in over 200 cities across India, including Mumbai, Delhi, Bangalore, Hyderabad, and Chennai.
Will my insurance cover this test?
Most insurance plans do not cover genetic tests, but coverage may depend on your specific policy. We recommend checking with your insurer before booking.
What is the turnaround time if I live in a remote area?
The sample will be received by the lab within 24-48 hours, and the turnaround time remains 3 to 4 weeks from sample receipt.
What are the benefits of genetic testing for PITX3 cataract?
Early diagnosis confirms the cause, guides surgical timing, helps prevent amblyopia, allows family screening, and supports informed reproductive decisions.
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

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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.

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