Finding Answers for Your Child’s Development: Phelan-McDermid Syndrome Genetic Testing
When you notice developmental delays or unusual symptoms in your child, the uncertainty can be overwhelming. As parents, you deserve clear answers and a path forward. Our Phelan-McDermid syndrome genetic test provides the definitive diagnosis you need to understand your child’s unique needs and access the right support.
Understanding the Phelan-McDermid Syndrome Test
Phelan-McDermid syndrome is a rare genetic condition caused by changes in the chromosome 22q13.3 region. Our advanced Next-Generation Sequencing (NGS) technology examines this specific genetic area with exceptional accuracy, detecting even the smallest changes that might be missed by other methods.
This isn’t just another test – it’s a comprehensive analysis that looks at the SHANK3 gene and surrounding regions, providing you with the most reliable results available in South Africa today.
Who Should Consider This Genetic Test?
This test is particularly important if your child shows:
- Significant developmental delays in speech and motor skills
- Autism spectrum disorder features
- Low muscle tone (hypotonia)
- Absent or severely delayed speech
- Mild physical features like large hands or dysplastic toenails
- Seizures or epilepsy
- Behavioural challenges including anxiety or aggression
If you have a family history of developmental disorders or previous children with similar symptoms, genetic testing can provide crucial information for your entire family’s health planning.
Why Early Detection Matters for Your Child’s Health
Getting a definitive diagnosis through genetic testing transforms uncertainty into actionable information. With clear results, you can:
- Access targeted therapies and interventions sooner
- Connect with specialist healthcare providers who understand the condition
- Join support communities of families facing similar challenges
- Make informed decisions about educational support and accommodations
- Understand the genetic basis for future family planning decisions
- Reduce the stress of not knowing and focus on effective support strategies
Understanding Your Test Results: Clear Guidance Every Step
We understand that waiting for genetic test results can be anxiety-provoking. That’s why we provide comprehensive support throughout the process:
- Pre-test genetic counselling to prepare you for possible outcomes
- Clear, easy-to-understand results explained in plain language
- Post-test counselling session to discuss what the results mean for your family
- Referrals to appropriate specialists and support services
- Ongoing support for any questions that arise after receiving results
Our team ensures you never feel alone in this journey, providing the medical expertise and emotional support you need.
Transparent Pricing – Investing in Your Child’s Future
| Service | Regular Price | Special Price | Value |
|---|---|---|---|
| Phelan-McDermid Syndrome Genetic Test | ZAR 6,700 | Save ZAR 2,650 | |
| Includes genetic counselling | Comprehensive pre- and post-test support included | ||
| Turnaround time | 3-4 weeks for complete results | ||
Consider this: Early diagnosis can save thousands in unnecessary medical tests and provide access to targeted interventions that significantly improve quality of life.
Why South African Families Trust Oracle Genomics
- Nationwide Coverage: Serving patients in Johannesburg, Cape Town, Durban, Pretoria and across South Africa
- Medical Expertise: Our genetic counsellors and medical specialists provide professional guidance
- Advanced Technology: Using cutting-edge NGS technology for the most accurate results
- Multiple Sample Options: Blood, extracted DNA, or simple blood spot on FTA card for convenience
- Proven Track Record: Helping South African families find answers for over a decade
- Compassionate Care: We understand the emotional journey of genetic testing
Take the First Step Toward Clarity Today
Every day without answers is a day without the right support for your child. Don’t let uncertainty hold your family back from getting the help you need.
Limited Time Offer: Book your test this month and save ZAR 2,650 off the regular price. Early detection could make all the difference in your child’s development journey.
