Angelman Syndrome Test
Introduction to the Angelman Syndrome Test
The Angelman Syndrome Test is an essential diagnostic tool used to identify Angelman syndrome, a neurogenetic disorder caused by a deficiency in the UBE3A gene. This condition is characterized by developmental delays, speech impairments, and problems with movement and balance. Early diagnosis is crucial for effective management and support, making this test a vital resource for families and healthcare providers.
What the Test Measures
This test uses Methylation Specific PCR to analyze the genetic material and detect abnormalities associated with Angelman syndrome. It specifically measures the methylation status of the UBE3A gene, which is critical in confirming a diagnosis.
Who Should Consider This Test?
Individuals who should consider the Angelman Syndrome Test include:
- Children exhibiting developmental delays
- Patients with speech and language difficulties
- Individuals with balance and movement disorders
- Family history of neurological disorders
Consultation with a neurologist, physician, or pediatrician is recommended to determine the necessity of this test.
Benefits of Taking the Test
Taking the Angelman Syndrome Test offers several benefits:
- Accurate diagnosis of Angelman syndrome
- Facilitates early intervention and management strategies
- Provides clarity for families regarding symptoms and future care
- Guidance for educational and therapeutic support options
Understanding Your Results
Results from the Angelman Syndrome Test will be available within 12 working days after sample submission. A healthcare professional will provide guidance on interpreting the results and discussing potential next steps based on the findings.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
Angelman Syndrome Test | 20,000 KSh | 30,000 KSh |
Sample Collection and Instructions
Sample type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory for processing the test.
Book Your Test Today!
We have branches across Kenya and offer home sample collection services for your convenience. Don’t wait—book the Angelman Syndrome Test today by calling or WhatsApping us at +254711564616.