Understanding SCARF2 Gene Testing: Your Path to Clarity About Van den Ende-Gupta Syndrome
When you notice unusual facial features or skeletal abnormalities in your child, the uncertainty can be overwhelming. As a parent in South Africa, you deserve clear answers about rare genetic conditions like Van den Ende-Gupta syndrome. Our specialised SCARF2 gene test provides the definitive genetic information you need to make informed healthcare decisions for your family.
What This Test Detects
The SCARF2 Gene Van den Ende-Gupta Syndrome NGS Genetic DNA Test uses cutting-edge Next-Generation Sequencing technology to examine the SCARF2 gene for mutations associated with this rare congenital disorder. This comprehensive analysis identifies specific genetic variations that can cause the characteristic facial features, skeletal abnormalities, and other symptoms associated with Van den Ende-Gupta syndrome.
Our advanced NGS technology ensures maximum accuracy, providing you with reliable results that can confirm or rule out this specific genetic condition with confidence.
Who Should Consider This Test?
This genetic test is particularly important for South African families experiencing:
- Children with distinctive facial features including blepharophimosis, arched eyebrows, or abnormal ear placement
- Skeletal abnormalities such as slender long bones, joint contractures, or arachnodactyly
- Family history of similar congenital abnormalities
- Unexplained developmental delays with characteristic physical features
- Previous inconclusive genetic testing results
If your child exhibits these symptoms or you have concerns about potential genetic inheritance patterns, this test can provide the clarity you need.
Why Early Detection Matters for Your Child’s Health
Getting a definitive diagnosis through SCARF2 gene testing offers numerous benefits for South African families:
- Early Intervention: Accurate diagnosis enables timely medical management and appropriate therapeutic interventions
- Family Planning Guidance: Understand inheritance patterns for future family planning decisions
- Reduced Diagnostic Odyssey: Avoid years of uncertainty and multiple specialist consultations
- Personalised Care: Develop targeted healthcare plans based on specific genetic findings
- Peace of Mind: Replace uncertainty with clear understanding of your child’s condition
Understanding Your Test Results
Our comprehensive genetic counselling ensures you fully understand your results and their implications:
- Positive Result: Confirms the presence of SCARF2 gene mutations associated with Van den Ende-Gupta syndrome, enabling targeted medical management
- Negative Result: Rules out this specific genetic condition, allowing investigation of other potential causes
- Variant of Uncertain Significance: Identifies genetic changes requiring further research, with ongoing monitoring recommendations
Our genetic counsellors provide clear, compassionate explanations and connect you with appropriate specialists throughout South Africa.
Transparent Pricing for South African Families
| Service | Regular Price | Special Price | Savings |
|---|---|---|---|
| SCARF2 Gene Test | ZAR 9,350 | ZAR 6,700 | ZAR 2,650 |
| Genetic Counselling Session | Included in Test Price | ||
| Family Pedigree Analysis | Included in Test Price | ||
| Result Interpretation | Included in Test Price | ||
Turnaround Time: 3 to 4 weeks
Sample Type: Blood, Extracted DNA, or One drop Blood on FTA Card
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Accessible testing services in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Expert Genetic Team: Specialised paediatric geneticists and certified genetic counsellors
- Advanced Technology: State-of-the-art NGS sequencing for maximum accuracy
- Comprehensive Support: From initial consultation through to result interpretation and specialist referrals
- Proven Track Record: Trusted by healthcare professionals throughout South Africa
Take the First Step Toward Genetic Clarity
Don’t let uncertainty about your child’s health continue. Early genetic testing can make a significant difference in their development and quality of life.
Book Your Genetic Counselling Session Today:
Our team is ready to help you understand the testing process, address your concerns, and begin the journey toward definitive answers.
Multiple Booking Options Available:
– Online booking through our secure portal
– Telephone consultations with our genetic counselling team
– Referrals from your paediatrician or specialist
Take control of your family’s genetic health journey. Contact Oracle Genomics today to schedule your comprehensive genetic assessment.
