Rett Syndrome Detection Test
Introduction to the Rett Syndrome Detection Test
The Rett Syndrome Detection Test is a specialized diagnostic tool designed to identify genetic mutations that cause Rett syndrome, a neurodevelopmental disorder predominantly affecting females. This condition leads to severe cognitive and physical impairments, making early detection vital for effective management and intervention.
What the Test Measures
This test specifically detects mutations in the MECP2 gene, which are commonly associated with Rett syndrome. By analyzing a sample of whole blood using advanced PCR sequencing methods, healthcare professionals can confirm or rule out the diagnosis of this genetic disorder.
Who Should Consider This Test?
Individuals who may benefit from the Rett Syndrome Detection Test include:
- Patients showing symptoms such as loss of purposeful hand skills, seizures, and developmental regression.
- Families with a history of Rett syndrome or related genetic disorders.
- Parents concerned about their child’s developmental milestones.
Benefits of Taking the Test
Taking the Rett Syndrome Detection Test offers numerous benefits, including:
- Accurate diagnosis of Rett syndrome, allowing for timely intervention.
- Informed family planning for parents with a history of the disorder.
- Access to appropriate support services and resources for affected individuals.
Understanding Your Results
Results from the Rett Syndrome Detection Test will be provided within 13 days. A genetic counselor or neurologist will guide you through the interpretation of the results, helping you understand the implications for your health or your child’s health.
Test Pricing
| Price Type | Amount (NGN) |
|---|---|
| Discount Price | 170,000 NGN |
| Regular Price | 300,000 NGN |
Booking the Test
To book the Rett Syndrome Detection Test, please call or WhatsApp us at +2348077798758. Ensure you have a duly filled Genomics Clinical Information Requisition Form (Form 20) ready, as it is mandatory for processing your sample.
Test Details
Turnaround Time: Sample must be submitted by 11 am; report will be available in 13 days.
Sample Type: 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Pre-test Instructions: Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Specialty: Neurologist
Department: Molecular Diagnostics
Method: PCR Sequencing
Disease Type: Genetic Disorders
