Understanding Leber Congenital Amaurosis: Your Genetic Answers for Inherited Vision Loss
When vision problems run in your family, the uncertainty can be overwhelming. Leber Congenital Amaurosis (LCA) is a serious inherited retinal condition that affects children from birth or early infancy, causing severe vision impairment or blindness. As a parent or concerned family member, you deserve clear answers about genetic risks and potential treatments. Our advanced genetic testing provides the definitive diagnosis you need to make informed decisions about your family’s eye health.
What Our Leber Congenital Amaurosis Test Detects
Using cutting-edge Next-Generation Sequencing (NGS) technology, our comprehensive test analyses 20 critical genes associated with LCA, including AIPL1, CEP290, CRB1, RPE65, and GUCY2D. These genes play essential roles in retinal development and function. By identifying specific genetic mutations, we can confirm whether LCA is present and determine the exact genetic cause, which is crucial for understanding inheritance patterns and exploring targeted treatment options.
Our testing process combines NGS with Sanger sequencing validation, ensuring 99.9% accuracy in results. This dual-methodology approach provides the highest level of confidence in your diagnosis.
Who Should Consider This Genetic Test?
This test is essential for individuals and families experiencing:
- Infants or children with severe vision impairment from birth
- Family history of inherited retinal diseases
- Children showing nystagmus (involuntary eye movements) in early infancy
- Delayed visual development in the first months of life
- Parents planning future pregnancies with known LCA in the family
- Individuals with unexplained vision loss seeking genetic answers
If you’re concerned about inherited vision conditions in your family, this test provides the clarity needed for proper management and treatment planning.
Why Genetic Testing Matters for Your Family’s Vision Health
Early and accurate genetic diagnosis of Leber Congenital Amaurosis offers significant benefits:
- Treatment Guidance: Specific genetic findings can guide appropriate interventions and emerging gene therapies
- Family Planning: Understand inheritance risks for future children
- Prognostic Information: Different genetic types of LCA have varying progression patterns
- Access to Clinical Trials: Genetic confirmation may qualify patients for cutting-edge treatments
- Peace of Mind: End the uncertainty and develop a clear management plan
With recent advances in gene therapy for specific LCA types, genetic testing has never been more valuable for treatment planning.
Understanding Your Genetic Results
We understand that waiting for genetic results can be anxiety-provoking. Our comprehensive report includes:
- Clear explanation of identified genetic variants
- Clinical significance of findings
- Inheritance pattern information
- Recommendations for follow-up care
- Genetic counselling referral if needed
Our genetic counsellors and ophthalmology specialists are available to help you understand your results and next steps. Positive results provide direction for management, while negative results offer valuable reassurance.
Transparent Pricing – Investing in Your Family’s Vision Health
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| Leber Congenital Amaurosis Genetic Test | ZAR 10,650 | ZAR 9,600 | ZAR 1,050 |
Turnaround Time: Samples received daily by 9 am; Reports delivered within 45 working days
Sample Requirements: 10 mL (5 mL minimum) whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE.
Mandatory Documentation: Duly filled Whole Exome Sequencing Consent Form (Form 37)
Why Trust Oracle Genomics for Your Genetic Testing?
As South Africa’s leading genetic testing provider, we offer:
- Nationwide Coverage: Accessible testing centres in Johannesburg, Cape Town, Durban, Pretoria and nationwide
- Expert Analysis: Results reviewed by certified genetic specialists and ophthalmologists
- Advanced Technology: State-of-the-art NGS and Sanger sequencing for maximum accuracy
- Patient-Focused Care: Compassionate support throughout your testing journey
- Proven Accuracy: 99.9% reliability in genetic variant detection
We understand the emotional weight of genetic testing for vision conditions and provide the professional, empathetic care your family deserves.
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about inherited vision conditions cloud your family’s future. Early genetic testing can provide the answers needed for proper management and access to emerging treatments.
Book Your Test Today:
- Online booking available 24/7
- Phone consultations with our genetic specialists
- Convenient sample collection nationwide
- Insurance pre-authorization assistance available
Limited time special pricing: Save ZAR 1,050 on comprehensive Leber Congenital Amaurosis genetic testing. Take control of your family’s eye health journey with confidence and clarity.
