Find Clarity for Your Child’s Health with Sphingolipidosis Panel 2 Testing
When your child shows unexplained symptoms or you have family history of rare genetic disorders, the uncertainty can be overwhelming. Our Sphingolipidosis Panel 2 test provides the answers you need to move forward with confidence and proper medical care.
Understanding the Sphingolipidosis Panel 2 Test
This specialised genetic screening test uses advanced enzyme assay technology to detect two critical metabolic disorders: Gaucher Disease and Niemann-Pick Disease. These conditions affect how your body processes certain fats, and early detection is crucial for effective management and treatment planning.
The test measures specific enzyme levels that, when deficient, indicate the presence of these inherited disorders. Our expert paediatric geneticists analyse the results with precision and care, ensuring you receive accurate, reliable information about your child’s health status.
Who Should Consider This Test?
This test is particularly important if your child shows:
- Unexplained developmental delays or regression
- Enlarged liver or spleen (hepatosplenomegaly)
- Bone pain or easy fractures
- Neurological symptoms like seizures or movement disorders
- Family history of Gaucher or Niemann-Pick diseases
- Unexplained anaemia or low platelet counts
If you’re planning a family and have concerns about genetic inheritance, this test can provide valuable insights for future family planning decisions.
Why Early Detection Matters for Your Child’s Health
Early diagnosis through our Sphingolipidosis Panel 2 can:
- Enable timely treatment interventions that can slow disease progression
- Provide access to specialised therapies and management strategies
- Help prevent complications through proactive medical care
- Offer peace of mind and reduce diagnostic uncertainty
- Support informed family planning decisions
- Connect you with specialist care networks across South Africa
Knowing the specific condition allows for targeted treatment approaches that can significantly improve quality of life.
Understanding Your Test Results
Our team provides clear, compassionate explanation of your results:
- Normal Results: Your child shows normal enzyme activity levels, providing reassurance about these specific conditions
- Abnormal Results: Our genetic counsellors will explain what the findings mean and connect you with appropriate specialist care
- Borderline Results: We provide guidance on next steps and potential follow-up testing if needed
Every result comes with personalised guidance from our paediatric genetics specialists, ensuring you have the support needed to make informed healthcare decisions.
Affordable, Accessible Genetic Testing
| Test Option | Price | Turnaround Time |
|---|---|---|
| Sphingolipidosis Panel 2 Test | ZAR 1,850 (Regular: ZAR 3,000) | 4 Days |
Sample requirements: 10 mL whole blood collected in Lavender Top (EDTA) or Green Top (Sodium Heparin) tubes. Clinical history must accompany sample for optimal analysis.
Why Trust Oracle Genomics?
- Nationwide Coverage: Accessible testing centres across Johannesburg, Cape Town, Durban, Pretoria and nationwide
- Expert Analysis: Results interpreted by specialist paediatric geneticists
- Fast Turnaround: Results within 4 days from sample receipt
- Comprehensive Support: Genetic counselling and specialist referrals included
- Proven Accuracy: Advanced enzyme assay methodology ensures reliable results
Take the First Step Toward Clarity Today
Don’t let uncertainty about your child’s health create unnecessary stress. Our Sphingolipidosis Panel 2 test provides the answers you need to make informed decisions about their care.
Limited time special pricing: Save ZAR 1,150 on comprehensive genetic screening. Book today to secure this special rate and get the clarity your family deserves.
