MECP2 Full Gene Mutation Analysis RETT Syndrome
Introduction to MECP2 Full Gene Mutation Analysis
The MECP2 Full Gene Mutation Analysis is a pivotal genetic test designed to identify mutations in the MECP2 gene, which are associated with RETT Syndrome, a serious neurodevelopmental disorder primarily affecting females. This test is significant as it aids in the early diagnosis and management of the condition, allowing for timely interventions that can improve the quality of life for affected individuals.
What the Test Measures
This comprehensive analysis detects specific mutations in the MECP2 gene. The presence of these mutations can confirm a diagnosis of RETT Syndrome, providing essential information for healthcare providers to tailor appropriate treatment plans.
Who Should Consider This Test?
Individuals who exhibit symptoms associated with RETT Syndrome, such as developmental delays, loss of purposeful hand skills, and communication difficulties, should consider this test. Additionally, those with a family history of genetic disorders or who are at risk due to known mutations in the MECP2 gene may also benefit from this analysis.
Benefits of Taking the Test
- Provides a definitive diagnosis of RETT Syndrome.
- Enables informed decision-making regarding management and therapy options.
- Offers insights into genetic risks for family planning.
- Helps in understanding the underlying causes of developmental issues.
Understanding Your Results
Results from the MECP2 Full Gene Mutation Analysis will indicate whether any mutations are present in the MECP2 gene. A positive result confirms a diagnosis of RETT Syndrome, while a negative result may suggest other causes for the symptoms. It is essential to discuss the results with a genetic counselor or healthcare provider for a comprehensive understanding and guidance on next steps.
Test Details
| Test Name | Discount Price | Regular Price |
|---|---|---|
| MECP2 Full Gene Mutation Analysis RETT Syndrome | 300000 NGN | 400000 NGN |
Additional Information
The sample type required for this test is peripheral blood, collected in an EDTA Vacutainer (2ml). The turnaround time for results is typically 8-10 days. Please note that this test can be conducted only with a doctor’s prescription; however, prescriptions are not applicable for individuals undergoing surgery, pregnancy, or those planning to travel abroad.
Book Your Test
Ready to take the next step towards understanding your genetic health? Book the MECP2 Full Gene Mutation Analysis RETT Syndrome today! For inquiries and appointments, please call or WhatsApp us at +2348077798758.
