Angelman Syndrome Test
Introduction to the Angelman Syndrome Test
The Angelman Syndrome Test is a specialized diagnostic test designed to detect Angelman syndrome, a neuro-genetic disorder characterized by developmental delays, speech impairments, and distinctive behavioral features. This test is vital for individuals exhibiting symptoms of this condition as it allows for early diagnosis and intervention, which can significantly improve the quality of life for affected individuals.
What the Test Measures
This test utilizes Methylation Specific PCR (Polymerase Chain Reaction) to assess the methylation status of the UBE3A gene, which is crucial in diagnosing Angelman syndrome. By analyzing the genetic material from a blood sample, the test can confirm the presence of abnormalities associated with this disorder.
Who Should Consider This Test?
Individuals who should consider the Angelman Syndrome Test include:
- Children with developmental delays and speech difficulties.
- Patients showing signs of motor dysfunction or seizures.
- Individuals with a family history of Angelman syndrome or related genetic disorders.
Benefits of Taking the Test
Taking the Angelman Syndrome Test provides numerous benefits, including:
- Early diagnosis leading to timely management and intervention.
- Access to appropriate therapies and support services.
- Informed decision-making for families regarding care and future planning.
Understanding Your Results
Results from the Angelman Syndrome Test will be available within 12 working days. A healthcare professional will provide guidance on interpreting the results, helping you understand the implications for the patient’s health and any necessary next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| Angelman Syndrome Test | 200,000 NGN | 300,000 NGN |
How to Book the Test
To schedule your Angelman Syndrome Test, please contact us at +2348077798758 or visit our website to book online. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready for submission along with your sample.
Sample Collection and Pre-Test Instructions
The sample required for this test is 4 mL (2 mL minimum) of whole blood collected in a Lavender top (EDTA) tube. It is essential to ship the sample refrigerated and to avoid freezing. Please ensure that the Genomics Clinical Information Requisition Form (Form 20) is filled out completely before your appointment.
