MECP2 Full Gene Mutation Analysis RETT Syndrome
Introduction
The MECP2 Full Gene Mutation Analysis is a specialized genetic test designed to identify mutations in the MECP2 gene, which are known to cause RETT Syndrome. This disorder predominantly affects females and leads to severe cognitive and physical impairments. Early diagnosis through this test is vital for managing the symptoms and improving the quality of life for affected individuals.
What the Test Measures
This test detects mutations in the MECP2 gene, which plays a crucial role in brain development and function. By analyzing the genetic material obtained from a peripheral blood sample, healthcare providers can confirm or rule out a diagnosis of RETT Syndrome.
Who Should Consider This Test
Individuals exhibiting symptoms such as loss of purposeful hand skills, gait abnormalities, and cognitive decline should consider this test. Additionally, those with a family history of RETT Syndrome or related genetic disorders may also benefit from undergoing this analysis.
Benefits of Taking the Test
- Early diagnosis can lead to timely intervention and management strategies.
- Understanding genetic risks can assist in family planning and counseling.
- Access to specialized care and support services for affected individuals.
Understanding Your Results
Results from the MECP2 Full Gene Mutation Analysis will indicate whether a mutation is present in the MECP2 gene. A positive result confirms the diagnosis of RETT Syndrome, while a negative result may suggest other underlying conditions. It is essential to discuss the results with a healthcare professional to understand their implications fully.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| MECP2 Full Gene Mutation Analysis RETT Syndrome | 30,000 | 40,000 |
Sample Collection and Turnaround Time
The MECP2 Full Gene Mutation Analysis requires a peripheral blood sample collected in an EDTA Vacutainer (2ml). The turnaround time for results is approximately 8-10 days.
Pre-Test Instructions
This test requires a Doctor’s prescription. Please note that a prescription is not applicable for surgery, pregnancy cases, or individuals planning to travel abroad.
Book Your Test Today!
We have branches across Kenya, and we also offer home sample collection services for your convenience. Don’t wait to get the answers you need. Book the MECP2 Full Gene Mutation Analysis RETT Syndrome today by calling or WhatsApping us at +254713408028.
