PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 NGS Genetic DNA Test

Understanding Neuronal Ceroid Lipofuscinosis: Your Path to Clarity

When neurological concerns affect your family, the uncertainty can be overwhelming. Neuronal Ceroid Lipofuscinosis Type 1 (CLN1) is a rare inherited condition that typically appears in infancy or early childhood, causing progressive neurological decline. Our PPT1 Gene Test offers the clarity you need to make informed decisions about your family’s health future.

What This Test Detects

This advanced genetic test specifically examines the PPT1 gene for mutations that cause Neuronal Ceroid Lipofuscinosis. Using Next-Generation Sequencing (NGS) technology, we provide comprehensive analysis of this critical gene, identifying the specific genetic changes that lead to this condition. The test analyses the entire PPT1 gene sequence, detecting even subtle mutations that might be missed by conventional methods.

Who Should Consider This Test

This test is particularly important for:

• Infants or children showing developmental regression or delays
• Families with a history of vision problems starting in early childhood
• Children experiencing seizures or movement disorders
• Parents planning future pregnancies with family history of neurological conditions
• Individuals with unexplained neurological symptoms and family history concerns

Why Early Detection Matters for Your Family

Early genetic testing provides numerous benefits for South African families:

• Peace of Mind: Eliminate uncertainty about your child’s health future
• Informed Planning: Make educated decisions about care and management
• Family Planning: Understand inheritance patterns for future pregnancies
• Early Intervention: Access appropriate support services sooner
• Medical Guidance: Work with healthcare providers on targeted care plans

Understanding Your Results

Our comprehensive report provides clear, understandable results with guidance from our genetic counselling team. You’ll receive:

• Clear explanation of genetic findings in plain language
• Information about what the results mean for your family
• Guidance on next steps and available support resources
• Access to genetic counselling to discuss implications
• Support in understanding inheritance patterns

Transparent Pricing and Value

Trust and Accessibility Across South Africa

Oracle Genomics brings world-class genetic testing to families throughout South Africa. With collection centres in Johannesburg, Cape Town, Durban, and Pretoria, we ensure that advanced genetic care is accessible when you need it most. Our NGS technology provides 99.9% accuracy, and our 3-4 week turnaround time means you get answers without unnecessary waiting.

Take the Next Step Towards Clarity

Don’t let uncertainty dictate your family’s health journey. Our team of genetic specialists is ready to support you through every step of the testing process. Book your test today and take the first step toward understanding your genetic health.