Understanding Fumarase Deficiency: Your Genetic Health Matters
When metabolic disorders run in your family, the uncertainty can be overwhelming. Fumarase deficiency is a rare but serious genetic condition that affects how your body processes energy, and knowing your genetic status can bring the clarity and peace of mind you deserve. At Oracle Genomics, we understand the emotional weight of genetic testing and provide compassionate, professional care throughout your journey.
What This Test Detects
Our FH Gene Fumarase Deficiency NGS Genetic DNA Test uses cutting-edge Next Generation Sequencing technology to examine the FH gene for mutations that cause fumarase hydratase deficiency. This condition disrupts the Krebs cycle – your body’s primary energy production pathway – leading to serious metabolic complications. The test provides comprehensive analysis of genetic variations that could affect you or your family members.
Who Should Consider This Test?
This genetic test is particularly important if you or your family members experience:
- Unexplained developmental delays in infants or children
- Neurological symptoms including seizures or movement disorders
- Family history of metabolic disorders or unexplained infant deaths
- Planning for pregnancy with known family genetic risks
- Abnormal metabolic screening results in newborns
Early detection through genetic testing can help guide treatment decisions and provide valuable information for family planning.
Why This Test Matters for Your Health
Understanding your genetic status for fumarase deficiency offers significant benefits:
- Early Intervention: Identify risks before symptoms become severe
- Family Planning: Make informed decisions about having children
- Treatment Guidance: Help healthcare providers develop appropriate management plans
- Peace of Mind: Reduce uncertainty about genetic risks
- Proactive Health Management: Monitor and manage potential health issues early
Understanding Your Results
We know waiting for genetic test results can be anxiety-provoking. Our team provides clear, compassionate explanations of your results:
- Positive Result: Indicates a mutation in the FH gene – our genetic counsellors will explain what this means for your health and next steps
- Negative Result: No detected mutations – providing reassurance about your genetic status
- Variant of Unknown Significance: Rare genetic changes whose impact isn’t fully understood – we’ll guide you through monitoring recommendations
All results come with professional genetic counselling to ensure you fully understand the implications.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| FH Gene Fumarase Deficiency NGS Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
Price includes genetic counselling session, comprehensive analysis, and detailed results explanation
Why Trust Oracle Genomics?
- Nationwide Coverage: Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Advanced Technology: State-of-the-art NGS sequencing for maximum accuracy
- Expert Team: Qualified genetic counsellors and medical professionals
- Fast Turnaround: Results in 3-4 weeks
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card
- Complete Preparation: Includes clinical history assessment and pedigree chart development
Take Control of Your Genetic Health Today
Don’t let uncertainty about genetic risks affect your peace of mind. Early detection through genetic testing can provide the answers you need to make informed health decisions.
Limited Time Special: Save ZAR 2,650 on your genetic testing
Convenient Nationwide Access: Testing available across South Africa
Professional Support: Genetic counselling included with every test
