Understanding Smith-Lemli-Opitz Syndrome: Your Path to Clarity and Peace of Mind
When you notice developmental delays or unusual physical features in your child, the uncertainty can be overwhelming. We understand the emotional journey you’re facing, and our DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test is designed to provide the answers you need with compassion and medical excellence.
What This Test Detects
This advanced genetic test specifically examines the DHCR7 gene for mutations that cause Smith-Lemli-Opitz syndrome – a rare genetic disorder affecting cholesterol metabolism. Using Next-Generation Sequencing (NGS) technology, we achieve exceptional accuracy in identifying even the smallest genetic variations that could impact your child’s development and health.
Who Should Consider This Test
This test is particularly important if your child shows:
- Developmental delays or intellectual disability
- Distinctive facial features (small head, droopy eyelids, broad nasal tip)
- Growth retardation or failure to thrive
- Cleft palate or other structural abnormalities
- Behavioural challenges including autism spectrum features
- Family history of similar conditions
Why Early Detection Matters for Your Child’s Health
Early diagnosis through our DHCR7 gene testing allows for:
- Timely intervention and management strategies
- Personalised treatment plans including cholesterol supplementation
- Better understanding of developmental prognosis
- Informed family planning decisions
- Connection with appropriate support services and specialists
Understanding Your Results with Compassion
We know receiving genetic test results can be emotional. That’s why we provide:
- Clear, easy-to-understand result explanations
- Professional genetic counselling included with your test
- Family pedigree analysis to understand inheritance patterns
- Guidance on next steps and available resources
- Ongoing support from our medical team
Transparent Pricing and Value
| Service | Regular Price | Special Price |
|---|---|---|
| DHCR7 Gene Test | ZAR 9,350 | ZAR 6,700 |
| Genetic Counselling | INCLUDED | |
| Family Pedigree Analysis | INCLUDED | |
| Result Interpretation | INCLUDED | |
Nationwide Accessibility and Trust
We serve families across South Africa with convenient testing locations in Johannesburg, Cape Town, Durban, Pretoria and nationwide. Our commitment to accuracy and patient care has made us a trusted partner for genetic testing throughout South Africa.
Take the Next Step Towards Clarity
Don’t let uncertainty about your child’s health continue. Our comprehensive DHCR7 gene testing provides the answers you need to make informed decisions and access the right support. With results in just 3-4 weeks and professional genetic counselling included, you’ll have the clarity and guidance needed to navigate your child’s health journey with confidence.
Book your test today and take the first step toward understanding and managing your child’s genetic health.
