RAI1 Gene Smith-Magenis Syndrome NGS Genetic DNA Test

Understanding Smith-Magenis Syndrome: Your Path to Clarity

When your child shows developmental delays, sleep disturbances, or behavioural challenges, the uncertainty can be overwhelming. Smith-Magenis syndrome is a complex genetic condition that affects approximately 1 in 15,000-25,000 individuals, and getting an accurate diagnosis is the first step toward proper management and support. Our RAI1 gene test provides the definitive answers you need to move forward with confidence.

What Does This Test Detect?

This advanced genetic test specifically examines the RAI1 gene on chromosome 17 using Next-Generation Sequencing (NGS) technology. The RAI1 gene plays a crucial role in regulating circadian rhythms, neurological development, and behavioural patterns. Mutations in this gene are responsible for Smith-Magenis syndrome, and our test identifies these genetic changes with over 99% accuracy, giving you reliable results you can trust for making informed healthcare decisions.

Who Should Consider This Test?

This test is particularly important for individuals showing:

• Developmental delays in speech and motor skills
• Distinctive facial features (broad face, deep-set eyes)
• Sleep disturbances and reversed circadian rhythms
• Behavioural challenges including self-harming behaviours
• Intellectual disability of unknown cause
• Family history of similar symptoms

If your child has been struggling with unexplained developmental issues, this test can provide the clarity needed to access appropriate support services and interventions.

Why Early Diagnosis Matters for Your Family

Receiving an accurate Smith-Magenis syndrome diagnosis early can significantly improve quality of life by:

• Enabling targeted interventions and therapies
• Providing access to specialised medical care
• Helping families understand and manage behavioural challenges
• Creating appropriate educational support plans
• Reducing family stress through understanding
• Preventing unnecessary medical investigations

Understanding Your Results with Compassion

We know that waiting for genetic test results can be anxiety-provoking. Our comprehensive results package includes:

• Clear, easy-to-understand report explaining the findings
• Access to genetic counselling to discuss results
• Guidance on next steps and available resources
• Support for family planning decisions
• Connections to specialist healthcare providers

Whether the results confirm Smith-Magenis syndrome or rule it out, you’ll have the information needed to make the best decisions for your family’s health journey.

Affordable Genetic Testing for South African Families

Consider the long-term value: Early diagnosis can save thousands in unnecessary medical tests and provide access to targeted interventions that significantly improve developmental outcomes.

Nationwide Access to Expert Genetic Testing

We’re proud to serve families across South Africa with convenient testing locations in:

• Johannesburg: Multiple collection centres in Sandton, Rosebank, and Randburg
• Cape Town: Accessible testing in the CBD, Southern Suburbs, and Northern Suburbs
• Durban: Convenient locations in Umhlanga, Berea, and the city centre
• Pretoria: Professional facilities in Hatfield, Brooklyn, and Menlyn
• Plus nationwide coverage through our partner network

Take the First Step Toward Understanding

Don’t let uncertainty about your child’s development continue to cause stress and worry. Our RAI1 Gene Smith-Magenis Syndrome test provides the answers you need to move forward with confidence and clarity.

Every day without answers is another day without the proper support and interventions. Take control of your family’s health journey with definitive genetic testing from South Africa’s trusted genetic specialists.