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Genetic Testing

PAX6 Gene Aniridia Genetic Test

The PAX6 Gene Aniridia NGS Genetic DNA Test helps diagnose Aniridia, a genetic condition affecting the eye's iris. Using Next Generation Sequencing (NGS), this test analyzes the PAX6 gene to identify mutations linked to hereditary vision disorders. Recommended for individuals with symptoms or a family history of Aniridia.

General information only: This page is not a diagnosis or personal medical advice. A qualified clinician should decide whether testing is appropriate and interpret results in context.

Review status: No completed medical review is recorded for this page.

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Counselor guidance included Confidential handling Kenya-wide coordination

At a glance

Plan your test

Sample
Blood sample (typically 5-10ml in an EDTA tube). Confirm specific requirements with the laboratory before booking.
Results
Confirm with the laboratory before booking.
Preparation
No special preparation is required for the blood draw. Please provide a detailed clinical history and family history (pedigree chart if available) to the laboratory or your referring physician.
Test priceKSh 40,000

Payment: M-Pesa and card options can be confirmed during booking.

Insurance & government schemes

Is this test covered for you?

We help you verify whether the PAX6 Gene Aniridia Genetic Test test can be claimed against your insurer, employer scheme or a Kenyan government health scheme — before you book. Coverage depends on your plan, clinical indication and your provider's rules; final approval always rests with them.

Talk to a claims advisor

Providers & schemes we can help you check

Government & public schemes

SHIF — Social Health Insurance Fund Linda Mama EduAfya NHIF (legacy cards)

Eligibility and benefits follow the current rules of the Social Health Authority (SHA) and applicable government programmes.

Private insurers & employer schemes

Jubilee Health AAR APA Britam CIC Madison Resolution Pioneer Minet Old Mutual GA Life Heritage + other licensed insurers

Names shown for identification only — listing does not imply partnership or guarantee of coverage.

Have these ready when we check

  • Insurer or scheme name & policy / member number
  • A clinician's request / prescription for the test
  • Pre-authorisation letter, if your plan requires one

Free coverage check

Ask us to verify your cover

Send your details and our claims team confirms what documents you need and whether pre-authorisation applies — usually the same working day.

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Used only to process your coverage check — see our Privacy Policy. Verification support is free and does not guarantee your provider will pay.

01

Start with fit

Is this the right test for you?

The best test starts with a clear clinical question. These are common reasons a clinician or family may consider this test.

  • ✓Individuals with symptoms suggestive of Aniridia (e.g., absent or underdeveloped iris, vision impairment).
  • ✓Individuals with a family history of Aniridia or related genetic eye conditions.
  • ✓Patients referred by an ophthalmologist or genetic counselor.
  • ✓Prenatal diagnosis in families with a known PAX6 mutation.
  • ✓Confirmation of diagnosis in suspected cases.
02

In plain language

What this test helps you understand

Diagnosis of Aniridia and related PAX6-associated eye disorders. Identification of pathogenic variants in the PAX6 gene. Genetic counseling for affected individuals and families. Risk assessment for family members.
The PAX6 Gene Aniridia NGS Genetic DNA Test is an advanced genetic examination used to diagnose Aniridia, a rare genetic disorder where the iris (the colored part of the eye) is partially or completely absent. This test is particularly important for individuals with a family history of this condition, enabling early detection and appropriate management strategies. We utilize Next Generation Sequencing (NGS) technology to accurately analyze the PAX6 gene, which plays a critical role in normal eye development.

This genetic test specifically looks for mutations within the PAX6 gene. These mutations are known causes of Aniridia and other related eye conditions. Understanding these genetic changes can help determine the risk of developing these conditions and inform potential interventions.

This test is recommended for individuals experiencing symptoms suggestive of Aniridia, such as the absence or underdevelopment of the iris, abnormal eye movements, or significant vision impairment. It is also advised for those with a known family history of Aniridia or other genetic eye disorders. Patients may be referred for this test by an ophthalmologist or a genetic counselor.

Taking this test offers several benefits, including early diagnosis which allows for timely management and potential treatment options. It can also provide valuable information for family planning and genetic risk assessment. Furthermore, it facilitates access to specialized care and resources for affected individuals, empowering patients with crucial knowledge about their genetic health.

Results are typically available within 3 to 4 weeks. A genetic counselor or your healthcare provider will help interpret the results, explaining any identified mutations and their potential implications for your health and your family's health.
03

Medical review status

Clinical review pending

A completed medical review is not recorded for this page. No clinician has endorsed the information shown here. Please discuss testing decisions with a qualified healthcare professional.

Meet the DNA Labs Kenya medical team →
04

A simple process

What happens next?

You do not have to navigate the test alone. We help you move from question to next step.

1

Speak with us

We check the test and answer your questions before collection.

2

Give your sample

Choose home collection or a coordinated hub visit in Kenya. We explain whether this test uses a cheek swab or blood draw.

3

Understand your report

A counselor helps you understand the result and the next steps.

05

Choose your collection

Home collection or a lab visit

We will explain the sample, preparation, and next steps before anything is collected.

Home collection

Choose a coordinated visit at home or another convenient location. Our team confirms the appointment and sample requirements in advance.

Lab or hub visit

Prefer to visit a coordinated location? We can guide you to the right hub and explain what to expect when you arrive.

Ask about locations →
PreparationNo special preparation is required for the blood draw. Please provide a detailed clinical history and family history (pedigree chart if available) to the laboratory or your referring physician.
SampleBlood sample (typically 5-10ml in an EDTA tube). Confirm specific requirements with the laboratory before booking.
MethodologyNext Generation Sequencing (NGS) targeting the PAX6 gene.
PrivacyYour sample and report are handled confidentially. Ask the team how your information is stored and shared.
This test analyzes specific regions of the PAX6 gene. It may not detect all possible mutations, such as deep intronic variants or large deletions/duplications not detectable by NGS. Results must be interpreted in the context of clinical findings and family history. This test does not rule out other genetic or non-genetic causes of eye conditions.
06

Read your report

What common result terms mean

PositiveA finding was identified. Your clinician or counselor will explain what it means for your care.
NegativeThe specific finding tested for was not identified. It does not rule out every possible cause.
VUSA variant was found, but current evidence is not enough to classify it. Your counselor can explain follow-up.
07

Questions people ask

Frequently asked questions

Aniridia is a rare genetic disorder characterized by the partial or complete absence of the iris, the colored part of the eye. It can also affect other parts of the eye and body.
Aniridia is typically inherited in an autosomal dominant pattern, meaning only one copy of the mutated PAX6 gene is needed to cause the disorder. However, some cases may arise from spontaneous mutations.
The PAX6 gene provides instructions for making a protein that is essential for the development of the eyes, pancreas, and other organs. Mutations in this gene can disrupt normal development.
This test identifies mutations associated with Aniridia. While it can indicate a high risk, the exact expression and severity can vary. Discuss your results with a genetic counselor or doctor.
Yes, if a specific PAX6 mutation has been identified in the family, this test can be used for prenatal diagnosis. Please consult with a genetic counselor for more information.
08

Collaboration

Open for partnership with hospitals, clinics, doctors & researchers

Whether you are referring patients, building a research programme or supporting students, we work as an extension of your team — with responsive communication and clear scientific standards.

Hospitals & clinics

Referral pathways, coordinated sample logistics and shared reporting that fits your clinical workflow.

Doctors & specialists

LOINC-coded reports, ACMG-based variant classification and a direct scientific line for complex cases.

Research institutions

Sanger sequencing, NGS panels and custom assays — with project design support, batch pricing and agreed turnaround commitments.

Students & academic projects

Discounted laboratory services for college, master's and PhD research projects — including proposal guidance and cost-effective batch testing.

Explore partnerships
09

Trust & transparency

Sources, standards & how this page is maintained

Standards & references

  • ACMG/AMP technical standards for sequence variant interpretation
  • ClinGen curation and gene–disease validity frameworks where applicable
  • LOINC-coded reporting for interoperable results
  • ISO 9001:2015 quality management; ISO 15189 accreditation in progress

Page provenance

  • Last updated: September 27, 2026
  • Medical review: not yet completed
  • Written for patients & clinicians in Kenya; reviewed periodically against current guidance

Medical disclaimer: this page is general information, not a diagnosis or personal medical advice. Testing decisions and result interpretation should be made with a qualified healthcare professional.

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