Find Clarity for Muscle Stiffness and Joint Concerns
When your body doesn’t move the way it should, or your child faces unexplained muscle stiffness, the uncertainty can be overwhelming. Our HSPG2 Gene Schwartz-Jampel Syndrome Type 1 NGS Genetic DNA Test provides the definitive answers you need to understand these challenging symptoms and take control of your health journey.
Understanding Your Genetic Test
This specialised test examines the HSPG2 gene using advanced Next-Generation Sequencing (NGS) technology to identify mutations that cause Schwartz-Jampel Syndrome Type 1. This rare genetic condition affects muscle function and bone development, and our test provides the clarity needed for proper diagnosis and management.
Unlike standard genetic tests, our NGS approach offers comprehensive analysis of the entire HSPG2 gene, ensuring no mutation goes undetected. This thorough examination gives you and your healthcare team the complete picture needed for effective treatment planning.
Who Should Consider This Test?
This test is particularly important if you or your child experience:
- Persistent muscle stiffness that doesn’t improve with movement
- Joint contractures or limited range of motion
- Unusual facial features including narrowed eye openings
- Short stature or bone abnormalities
- Family history of similar symptoms
- Unexplained developmental delays
Many South African families have found answers through this test, helping them understand conditions that previously seemed mysterious and unmanageable.
Why Early Detection Matters for Your Health
Receiving a definitive diagnosis through genetic testing can be life-changing. Understanding whether Schwartz-Jampel Syndrome is present allows for:
- Targeted Treatment Plans: Work with neurologists to develop specific management strategies
- Family Planning Guidance: Make informed decisions about future pregnancies
- Symptom Management: Implement appropriate physical therapy and interventions
- Peace of Mind: End the uncertainty and begin focused care
- Educational Support: Access appropriate resources and accommodations
Early diagnosis means earlier intervention, which can significantly improve quality of life and functional outcomes.
Understanding Your Test Results
We understand that waiting for genetic test results can be anxiety-provoking. That’s why we provide comprehensive support throughout the process:
- Clear, Understandable Reports: Your results will be explained in plain language
- Genetic Counselling Session: Included with your test to help interpret findings
- Family Pedigree Analysis: We map your family history to provide context
- 3-4 Week Turnaround: We work efficiently while maintaining accuracy
- Ongoing Support: Our team is available to answer follow-up questions
Whether your results confirm Schwartz-Jampel Syndrome or rule it out, you’ll have the information needed to move forward with confidence.
Transparent Pricing – Exceptional Value
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| HSPG2 Gene Schwartz-Jampel Syndrome Type 1 NGS Test | ZAR 6,700 | ZAR 2,650 | |
| Includes genetic counselling, sample collection, and comprehensive analysis | |||
Consider this investment in your health: early diagnosis can prevent years of unnecessary tests, specialist visits, and uncertainty, potentially saving thousands in future healthcare costs.
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: State-of-the-art NGS technology for maximum accuracy
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card
- Complete Service: From genetic counselling to result interpretation
- South African Focus: Understanding local healthcare needs and concerns
Take the First Step Toward Understanding
Don’t let uncertainty about muscle stiffness or joint issues control your life. Our genetic test provides the answers that can lead to better management and improved quality of life.
Book your test today and receive:
- Comprehensive HSPG2 gene analysis
- Professional genetic counselling session
- Clear, actionable results in 3-4 weeks
- Ongoing support from our medical team
Contact us now to schedule your test at our Johannesburg, Cape Town, or Durban locations, or inquire about mobile testing options. Your journey to clarity begins with one simple decision.
Limited Time Special: Save ZAR 2,650 on this essential genetic test. Early detection leads to earlier intervention and better outcomes. Don’t delay – take control of your health today.
