Find Answers for Muscle Weakness with POMK Gene Testing
When you’re experiencing unexplained muscle weakness or have a family history of muscular dystrophy, the uncertainty can be overwhelming. Our POMK Gene Limb-Girdle Muscular Dystrophy Type 12C NGS Genetic DNA Test provides the clarity you need to understand your genetic health and make informed decisions about your future.
Understanding Your POMK Gene Test
This advanced genetic test specifically examines the POMK gene using Next Generation Sequencing (NGS) technology – the gold standard in genetic testing. The POMK gene provides instructions for making a protein essential for muscle cell structure and function. When mutations occur in this gene, it can lead to limb-girdle muscular dystrophy type 12C, an autosomal recessive condition that affects the muscles around your shoulders and hips.
Unlike basic genetic tests, our NGS approach provides comprehensive analysis of the entire POMK gene, ensuring no mutation goes undetected. This thorough examination gives you and your healthcare provider the complete picture needed for accurate diagnosis and management.
Who Should Consider This Test?
This test is particularly important if you experience:
- Progressive muscle weakness in your shoulders, hips, or thighs
- Difficulty climbing stairs or rising from chairs
- Family history of muscular dystrophy or unexplained muscle conditions
- Waddling gait or frequent falls
- Muscle cramps or stiffness without clear cause
- Concerns about passing genetic conditions to children
If you’re planning a family and have relatives with muscular dystrophy, this test can provide crucial information for your reproductive decisions.
Why Early Detection Matters for Your Health
Getting tested for POMK gene mutations offers significant benefits:
- Early Intervention: Identify the condition before significant muscle damage occurs
- Treatment Planning: Work with neurologists to develop personalised management strategies
- Family Planning: Understand inheritance risks for future children
- Peace of Mind: End the uncertainty and anxiety of unexplained symptoms
- Proactive Care: Implement lifestyle adjustments and monitoring protocols early
Early diagnosis can significantly improve quality of life through targeted interventions and appropriate medical care.
Understanding Your Test Results
We understand that waiting for genetic test results can be stressful. That’s why we provide comprehensive support throughout the process:
- Clear Results: Your report will clearly indicate whether POMK gene mutations were detected
- Genetic Counselling: Included with your test to help interpret results and understand implications
- Family Pedigree: We’ll help create a family history chart to understand inheritance patterns
- Next Steps Guidance: Clear recommendations for follow-up care and specialist referrals
- Ongoing Support: Access to our team for any questions about your results
Whether your results are positive or negative, you’ll have the information and support needed to move forward confidently.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price |
|---|---|---|
| POMK Gene Test with Genetic Counselling | ZAR 6,700 | |
| Includes comprehensive NGS analysis, genetic counselling session, and detailed results interpretation | ||
Considering the potential impact on your health and family planning decisions, this test represents excellent value for comprehensive genetic insights.
Why Trust Oracle Genomics?
- Nationwide Coverage: Available in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Tests supervised by qualified neurologists and genetic specialists
- Advanced Technology: Using NGS – the most accurate genetic testing method available
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card
- Reliable Turnaround: Results typically within 3-4 weeks
- Professional Support: Genetic counselling included with every test
Take Control of Your Genetic Health Today
Don’t let uncertainty about muscle weakness or family history cause unnecessary anxiety. Our POMK Gene Test provides the answers you need with professional support every step of the way.
Limited Time Special: Save ZAR 2,650 on comprehensive POMK gene testing with genetic counselling included.
Contact us today to schedule your test and begin your journey toward clarity and peace of mind. Early detection could make all the difference for your health and your family’s future.
