MECP2 Full Gene Mutation Analysis RETT Syndrome Test
At DNA Labs UAE, we offer the MECP2 Full Gene Mutation Analysis RETT Syndrome Test for the diagnosis of Rett syndrome. Rett syndrome is a neurodevelopmental disorder that primarily affects girls. It is caused by mutations in the MECP2 gene, which is located on the X chromosome.
Test Details
The MECP2 Full Gene Mutation Analysis involves sequencing the entire MECP2 gene to identify any mutations or changes in the gene sequence. This test is typically performed on a blood sample or a sample of saliva. The test components include an EDTA Vacutainer (2ml).
Test Cost and Report Delivery
The cost of the MECP2 Full Gene Mutation Analysis RETT Syndrome Test is 3000.0 AED. The report will be delivered within 8-10 days.
Method and Test Type
The MECP2 Full Gene Mutation Analysis is performed using Sanger Sequencing, a method commonly used in genetics testing. This test falls under the genetics test category.
Referring Doctor and Test Department
The referring doctor for this test is a Gynecologist. The test is conducted in our Genetics Test Department.
Pre Test Information
A Doctors prescription is required for the MECP2 Full Gene Mutation Analysis RETT Syndrome Test. However, it is not applicable for surgery and pregnancy cases or people planning to travel abroad.
Symptoms and Diagnosis
Rett syndrome is characterized by various symptoms, including a loss of purposeful hand skills, a regression of acquired skills, loss of verbal communication, stereotypic hand movements (such as hand-wringing or hand-washing), and the development of breathing abnormalities. These symptoms usually become apparent between 6 and 18 months of age.
By identifying mutations in the MECP2 gene, the MECP2 Full Gene Mutation Analysis can provide a definitive diagnosis of Rett syndrome. This information is crucial for understanding the cause of the disorder and for providing appropriate medical management and support for affected individuals and their families.
Test Name | MECP2 Full Gene Mutation Analysis RETT Syndrome Test |
---|---|
Components | EDTA Vacutainer (2ml) |
Price | 3000.0 AED |
Sample Condition | Peripheral blood |
Report Delivery | 8-10 days |
Method | Sanger Sequencing |
Test type | Genetics |
Doctor | Gynecologist |
Test Department: | |
Pre Test Information | MECP2 Full Gene Mutation Analysis (RETT Syndrome) can be done with a Doctors prescription. Prescription is not applicable for surgery and pregnancy cases or people planing to travel abroad. |
Test Details |
MECP2 Full Gene Mutation Analysis is a genetic test used to diagnose Rett syndrome, a neurodevelopmental disorder that primarily affects girls. Rett syndrome is caused by mutations in the MECP2 gene, which is located on the X chromosome. The MECP2 Full Gene Mutation Analysis involves sequencing the entire MECP2 gene to identify any mutations or changes in the gene sequence. This test is typically performed on a blood sample or a sample of saliva. Rett syndrome is characterized by a loss of purposeful hand skills, a regression of acquired skills, loss of verbal communication, stereotypic hand movements (such as hand-wringing or hand-washing), and the development of breathing abnormalities. These symptoms usually become apparent between 6 and 18 months of age. By identifying mutations in the MECP2 gene, the MECP2 Full Gene Mutation Analysis can provide a definitive diagnosis of Rett syndrome. This information is important for understanding the cause of the disorder and for providing appropriate medical management and support for affected individuals and their families. |