PAX6 Gene Aniridia NGS Genetic Test
Short Name: PAX6 Aniridia NGS
Also known as: PAX6 gene mutation analysis, Aniridia genetic test, PAX6 NGS sequencing
PAX6 Gene Aniridia 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 Reports are generally prepared within 3 to 4 weeks of the sample reaching the laboratory. If additional confirmation or family studies are required, the turnaround time may vary.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PAX6 Gene Aniridia NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the PAX6 gene and thereby provide a definitive molecular diagnosis for aniridia. By identifying the exact genetic cause, the test enables accurate genetic counselling, recurrence-risk assessment, and early intervention strategies for affected individuals and their at-risk relatives.
- Test Code
- 3766
- ICD Code
- Q13.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are generally prepared within 3 to 4 weeks of the sample reaching the laboratory. If additional confirmation or family studies are required, the turnaround time may vary.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting or special preparation is required. Please carry your clinical records, previous eye examination reports, and any relevant family history information to the collection centre.
Method: Peripheral venipuncture or FTA card blood spot
Laboratory Analysis
A peripheral blood sample will be collected in an EDTA vacutainer by a trained phlebotomist. For home collection, an FTA card blood-spot method may be used.
Report Delivery
No restrictions are needed after sample collection. The sample should be transported to the laboratory as per the instructions provided at the time of collection.
Timeline: Reports are generally prepared within 3 to 4 weeks of the sample reaching the laboratory. If additional confirmation or family studies are required, the turnaround time may vary.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PAX6 Gene Aniridia NGS Genetic Test is to detect pathogenic or likely pathogenic variants in the PAX6 gene and thereby provide a definitive molecular diagnosis for aniridia. By identifying the exact genetic cause, the test enables accurate genetic counselling, recurrence-risk assessment, and early intervention strategies for affected individuals and their at-risk relatives.
How to Prepare
- Please carry a valid photo ID for patient identification
- Write the patient's name and date of birth on the sample label
- Inform the lab if the patient has received a blood transfusion in the last 48 hours
- For an FTA card, allow the blood spot to dry completely before placing it in the provided envelope
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early molecular confirmation of PAX6 variants in aniridia families is critical for informed family planning, recurrence-risk counselling, and early surveillance for associated eye complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Insufficient sample volume or quantity
- Unlabelled or mislabelled sample
- Suspected sample mix-up
- Sample received in a heparin tube instead of EDTA
- Leaked or damaged sample container
Understanding Your Results
Pathogenic variant detected
Confirms the molecular diagnosis of PAX6-related aniridia and establishes the genetic basis for the clinical features.
Action: Refer to clinical genetics and ophthalmology for surveillance and family counselling.
Likely pathogenic variant detected
Supports the molecular diagnosis; additional segregation or functional evidence may strengthen classification.
Action: Offer targeted testing to at-risk family members and discuss reproductive options.
Variant of uncertain significance (VUS)
The variant cannot yet be used for diagnosis or carrier status. Further laboratory and family studies may be required.
Action: Discuss in detail with a clinical geneticist; consider complementary genetic or biochemical testing.
No pathogenic variant detected
Does not exclude PAX6-related disease due to large deletions, deep intronic variants, or other genetic causes.
Action: Correlate with clinical findings; consider PAX6 deletion/duplication testing or a broader ophthalmic genetics panel.
Consult your referring doctor or a clinical geneticist when a pathogenic, likely pathogenic, or uncertain variant is reported. If the result is negative, continue ophthalmological follow-up as advised by your eye specialist, especially when clinical features strongly suggest aniridia.
Limitations
- ⚠NGS does not reliably detect large PAX6 deletions, duplications, or complex rearrangements
- ⚠Variants in regions with low sequencing depth may be missed
- ⚠Deep intronic or regulatory variants are not routinely captured by this test
- ⚠A lack of family history does not exclude a de novo PAX6 variant
- ⚠The test is not intended for somatic variant testing
Risks & Considerations
- ●Minimal risk of discomfort at the venipuncture site
- ●Small chance of bruising or bleeding
- ●Rare possibility of feeling faint during blood collection
- ●Emotional or psychological impact of a genetic test result
Interfering Factors
- ●Degraded or fragmented DNA from improper sample transport
- ●Low DNA yield or insufficient sample quantity
- ●Contamination with DNA from another individual
- ●Unlabelled or mislabelled sample
Compare With Similar Tests
| Test | PAX6 Gene Aniridia NGS Genetic Test | PAX6 Gene Aniridia NGS Test | PAX6 Deletion/Duplication Analysis | Anterior Segment Dysgenesis NGS Panel | Whole Exome Sequencing (WES) |
|---|---|---|---|---|---|
| Comparison | PAX6 Gene Aniridia NGS Genetic Test |
Frequently Asked Questions
What is the cost of PAX6 Gene Aniridia NGS Genetic Test?
What does the PAX6 gene do?
What is aniridia?
Who should take this PAX6 NGS genetic test?
What type of sample is needed for this test?
Is fasting required before giving the sample?
How long does the PAX6 gene test report take?
Will I receive raw data files with my report?
Does the test price include genetic counselling?
Is home sample collection available for the PAX6 gene test?
Can a normal eye examination exclude the need for a genetic test?
What should I do if the result shows a pathogenic PAX6 variant?
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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.
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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