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PAX6 Gene Coloboma of Optic Nerve NGS Genetic Test

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PAX6 Gene Coloboma of Optic Nerve NGS Genetic Test

Short Name: PAX6 ONC NGS

Also known as: PAX6 gene sequencing, Optic nerve coloboma genetic test, PAX6 optic nerve coloboma NGS panel, PAX6 eye malformation genetic test

PAX6 Gene Coloboma of Optic Nerve 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 typically delivered within 3 to 4 weeks after the sample reaches the laboratory.. 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

To detect pathogenic variants in the PAX6 gene in individuals with optic nerve coloboma or related ocular features, confirm the genetic aetiology, and enable reproductive risk assessment and familial cascade testing.

Test Code
3802
ICD Code
Q14.2
Price
₹20,000
Sample Type
Blood or Extracted DNA or One Drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Clinical history of the patient must be provided. A genetic counselling session is recommended before sample collection to draw a pedigree chart of family members affected with PAX6-related eye disease and to discuss the implications of genetic testing.

Method: Peripheral blood draw / FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect approximately 2-3 mL of venous blood into an EDTA tube, or a finger-prick blood spot will be collected on an FTA card. The procedure is safe and takes only a few minutes.

Step 3

Report Delivery

No post-test restrictions are required. The laboratory will process the sample and share the report through the online portal, email, or WhatsApp within 3 to 4 weeks.

Timeline: Reports are typically delivered within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:A pre-test genetic counselling session is recommended. The clinician should provide a detailed clinical history and family pedigree showing individuals affected with PAX6-related eye conditions.
2
During the Test:No special preparation is needed. The patient may eat and drink normally before sample collection.
3
After the Test:Once the report is available, post-test genetic counselling is recommended to discuss the result, implications for family members, and any surveillance or reproductive recommendations.

About This Test

Who Should Get This Test

To detect pathogenic variants in the PAX6 gene in individuals with optic nerve coloboma or related ocular features, confirm the genetic aetiology, and enable reproductive risk assessment and familial cascade testing.

How to Prepare

  • No fasting is required for this test
  • For FTA card collection, apply one drop of blood carefully onto the marked circles and allow to air dry away from direct sunlight
  • Label the sample immediately with the patient's full name, date of birth, and unique identification number
  • Transport the sample to the laboratory at ambient temperature in a leak-proof bag

Doctor's Notes

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

"Genetic confirmation of PAX6 variants is essential for accurate recurrence risk counselling in families affected by optic nerve coloboma."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One Drop Blood on FTA Card
Sample VolumeApproximately 2-3 mL venous blood or one FTA spot
ContainerEDTA vacutainer or FTA card
Collection MethodPeripheral blood draw / FTA card blood spot

Sample Stability

Whole blood (EDTA): stable for 72 hours at 2-8°C
FTA card: stable for several months at room temperature in low humidity
Extracted DNA: stable at -20°C for at least one week when stored appropriately
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Frozen whole blood sample
  • Insufficient blood volume or inadequate DNA concentration
  • Incomplete or mismatched patient labeling
  • Sample received outside the recommended storage conditions

Understanding Your Results

The PAX6 gene NGS genetic test provides information about pathogenic variants in the PAX6 gene. Interpretation should always be performed by a clinical geneticist or genetic counsellor in the context of the patient's clinical examination, family history, and other investigations.
📊

Pathogenic variant detected

Confirms a genetic diagnosis of PAX6-related optic nerve coloboma; discuss clinical implications, surveillance, and family cascade testing.

📊

Variant of uncertain significance detected

Not diagnostic; further segregation analysis, bioinformatic classification, and clinical correlation are required before clinical action.

📊

No pathogenic/likely pathogenic variant detected

Does not exclude a genetic cause; consider alternative genes, structural variant testing, or non-genetic aetiologies based on clinical features.

⚠️ When to Consult a Doctor:

If you or a family member have been diagnosed with optic nerve coloboma, aniridia, or unexplained visual impairment with structural eye abnormalities, consult an ophthalmologist and a clinical geneticist for evaluation, genetic counselling, and appropriate testing.

Limitations

  • ⚠NGS may not detect large deletions, duplications, or complex structural rearrangements depending on assay design
  • ⚠A variant of uncertain significance may not provide a definitive diagnosis
  • ⚠Absence of a pathogenic variant does not exclude all genetic causes of optic nerve coloboma
  • ⚠Results must be interpreted in conjunction with clinical findings and family history

Risks & Considerations

  • ●Minimal bruising at the venepuncture site
  • ●Slight discomfort or pain during blood collection
  • ●Rarely, lightheadedness or vasovagal reaction
  • ●No significant medical risks are associated with the test itself

Interfering Factors

  • ●Incomplete clinical information or phenotype data
  • ●Poor DNA quality or quantity
  • ●Low-level mosaicism may not be reliably detected
  • ●Rare non-coding or deep intronic variants may not be fully covered by NGS
  • ●Maternal cell contamination if sample handling is not controlled

Compare With Similar Tests

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Frequently Asked Questions

What is the PAX6 gene?
The PAX6 gene encodes a transcription factor that is critical for the normal development of the eye, brain, spinal cord, and pancreas. Pathogenic variants in PAX6 can cause structural eye malformations, including optic nerve coloboma and aniridia.
What is optic nerve coloboma?
Optic nerve coloboma is a congenital condition where there is a gap or cleft in the optic nerve tissue. It can cause blurred vision, visual field defects, nystagmus, strabismus, photophobia, and sometimes severe vision loss.
Who should consider this genetic test?
Individuals with optic nerve coloboma, unexplained optic disc abnormalities, a family history of PAX6-related eye disorders, or those who need reproductive risk assessment for optic nerve coloboma should consider this test.
What sample is required for the PAX6 NGS test?
The test can be performed using whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card. No fasting is required.
How long does the PAX6 NGS test take?
Reports are usually available within 3 to 4 weeks after the sample reaches the DNA Labs India laboratory.
What is the cost of the PAX6 Gene Coloboma NGS Genetic Test?
At DNA Labs India, the test costs INR 20,000. The price includes the NGS analysis, clinical report, and raw data files. A free home sample collection is available for online bookings in many cities.
Is the PAX6 NGS test covered by insurance?
Coverage depends on the insurance policy, plan, and clinical indication. It is important to check with your insurance provider before testing.
What does a pathogenic variant detected result mean?
A pathogenic variant in PAX6 confirms a genetic diagnosis of PAX6-related eye disease, such as optic nerve coloboma. This result can help guide clinical management and provide accurate recurrence risk information for the family.
Can a negative PAX6 NGS result rule out optic nerve coloboma?
No. A negative or unremarkable NGS result does not completely rule out PAX6-related disease because the test may not detect certain types of variants, such as large rearrangements. It also does not rule out other genetic or non-genetic causes of optic nerve coloboma.
Will I receive raw data files with the test report?
Yes. DNA Labs India is transparent and provides raw data files, including FASTQ and VCF, along with the conclusive clinical report for this genetic test.
Is genetic counselling necessary before or after the test?
Genetic counselling is strongly recommended. A pre-test counselling session helps assess the family history and draw a pedigree chart. Post-test counselling helps understand the result, its clinical implications, and potential risks to other family members.
Can this test guide treatment for optic nerve coloboma?
This test helps confirm the genetic cause, which supports prognosis and surveillance planning. It does not directly treat the condition. Management remains ophthalmology-based and may include correction of refractive error, amblyopia therapy, glaucoma monitoring, and low-vision rehabilitation.
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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