RETT Syndrome Deletion Duplication Detection
Introduction to RETT Syndrome Deletion Duplication Detection
RETT Syndrome is a rare genetic disorder that primarily affects girls and is characterized by normal early development followed by a loss of acquired skills. The RETT Syndrome Deletion Duplication Detection test is crucial for identifying specific genetic anomalies associated with this condition. Understanding these genetic factors can lead to timely interventions and better management of the syndrome.
What the Test Measures
This test utilizes the MLPA (Multiplex Ligation-dependent Probe Amplification) method to detect deletions or duplications in the MECP2 gene, which are commonly associated with RETT Syndrome. By analyzing peripheral blood samples, the test can reveal significant genetic alterations that may not be evident through standard clinical assessments.
Who Should Consider This Test
Individuals who may benefit from the RETT Syndrome Deletion Duplication Detection test include:
- Children showing developmental delays or regression, particularly girls.
- Families with a history of RETT Syndrome or related genetic disorders.
- Individuals with symptoms such as loss of purposeful hand skills, gait abnormalities, and cognitive decline.
Benefits of Taking the Test
Taking the RETT Syndrome Deletion Duplication Detection test offers several advantages:
- Early identification of genetic anomalies can facilitate timely diagnosis and treatment.
- Provides crucial information for family planning and genetic counseling.
- Helps in understanding the prognosis and potential interventions for affected individuals.
Understanding Your Results
Results from the RETT Syndrome Deletion Duplication Detection test can typically be expected within 7-10 days. A genetic counselor or healthcare professional will assist in interpreting the results, explaining the implications of any detected deletions or duplications, and discussing next steps for management.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| RETT Syndrome Deletion Duplication Detection | 210,000 NGN | 280,000 NGN |
Booking the Test
To book the RETT Syndrome Deletion Duplication Detection test, a doctor’s prescription is required. Please note that this prescription is not applicable for individuals undergoing surgery, pregnant women, or those planning to travel abroad. For more information or to schedule your test, contact us at +2348077798758 or visit our website.
