POLG Gene Mitochondrial DNA Depletion Syndrome Type 4B NGS Genetic DNA Test

Understanding Mitochondrial DNA Depletion Syndrome Type 4B

When neurological symptoms appear in your child or family members, the uncertainty can be overwhelming. Mitochondrial DNA depletion syndrome type 4B is a rare genetic disorder that affects the body’s energy production, leading to serious neurological complications. Our POLG gene test provides the clarity you need to move forward with confidence.

What This Test Detects

This advanced genetic screening identifies mutations in the POLG gene, which plays a crucial role in mitochondrial DNA replication. When this gene malfunctions, it leads to reduced mitochondrial DNA, causing energy deficiencies that particularly affect the brain, liver, and muscles. Early detection through our NGS technology provides the most accurate results available.

Who Should Consider This Test

This test is essential if you or your child experience:

• Unexplained neurological symptoms in infancy or childhood
• Developmental delays or regression
• Seizures that don’t respond to standard treatments
• Liver dysfunction without clear cause
• Family history of mitochondrial disorders
• Multiple affected siblings suggesting genetic inheritance

Why Early Detection Matters

Receiving a definitive diagnosis through our POLG gene test can:

• Guide appropriate treatment and management strategies
• Provide clarity for family planning decisions
• Reduce diagnostic uncertainty and medical odyssey
• Connect you with specialist care and support networks
• Offer peace of mind through accurate genetic information

Understanding Your Results

Our genetic counselling team will walk you through your results with compassion and expertise. We explain what the findings mean for your health, discuss management options, and provide guidance for family members. Remember, knowledge is power – understanding your genetic makeup empowers you to make informed healthcare decisions.

Comprehensive Pricing – Exceptional Value

Nationwide Access – Your Health, Our Priority

We serve patients across South Africa with convenient testing locations in Johannesburg, Cape Town, Durban, and Pretoria. Our network ensures you receive the same high-quality care and accurate results regardless of your location.

Take Control of Your Genetic Health Today

Don’t let uncertainty about mitochondrial disorders control your family’s future. Our POLG gene test provides the answers you need with the support you deserve. Book your test today and take the first step toward clarity and peace of mind.