RETT SYNDROME DETECTION Test
Test Cost: AED 1470.0
Symptoms, Diagnosis, and Test Details
At DNA Labs UAE, we offer the RETT SYNDROME DETECTION Test for the diagnosis of Rett syndrome, a rare genetic disorder that primarily affects girls. The test cost is AED 1470.0.
Test Components
- 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube
- Sample must be shipped refrigerated and should not be frozen
- Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory
Report Delivery
Sample should be submitted by 11 am and the report will be delivered within 13 days.
Method
The RETT SYNDROME DETECTION Test is performed using PCR Sequencing.
Test Type
The RETT SYNDROME DETECTION Test is a Genetic Disorders test.
Doctor
The test is recommended by Neurologists.
Test Department
The RETT SYNDROME DETECTION Test is conducted in the MOLECULAR DIAGNOSTICS department.
Pre Test Information
A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory before conducting the test.
Test Details
Rett syndrome is a rare genetic disorder that primarily affects girls. It is characterized by a loss of purposeful hand skills, development regression, slowed growth, and impaired communication and social interaction. The diagnosis of Rett syndrome is typically based on clinical features and confirmed through genetic testing.
Diagnostic Process
- Medical history and physical examination: The doctor will review the child’s medical history and perform a physical examination to assess growth, neurological function, and specific features associated with Rett syndrome.
- Developmental assessment: The child’s developmental skills and regression patterns will be evaluated, including motor skills, language, social interaction, and cognitive abilities.
- Genetic testing: A genetic test is usually performed to confirm the diagnosis. The most common genetic mutation associated with Rett syndrome is a mutation in the MECP2 gene, which can be detected through a blood or saliva sample. In some cases, other genetic tests may be necessary to rule out other conditions with similar symptoms.
- Differential diagnosis: The doctor will consider other conditions that may have similar symptoms to Rett syndrome, such as autism spectrum disorder, cerebral palsy, or other genetic disorders. This is important to ensure an accurate diagnosis and appropriate management.
It is important to note that Rett syndrome can be challenging to diagnose, especially in its early stages, as some symptoms may overlap with other conditions. Therefore, a comprehensive evaluation by a team of healthcare professionals, including neurologists, geneticists, and developmental specialists, is often necessary for an accurate diagnosis.
| Test Name | RETT SYNDROME DETECTION Test |
|---|---|
| Components | |
| Price | 1470.0 AED |
| Sample Condition | 4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE. Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Report Delivery | SampleSat by 11 am;Report 13 days |
| Method | PCR Sequencing |
| Test type | Genetic Disorders |
| Doctor | Neurologist |
| Test Department: | MOLECULAR DIAGNOSTICS |
| Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
| Test Details |
Rett syndrome is a rare genetic disorder that primarily affects girls. It is characterized by a loss of purposeful hand skills, development regression, slowed growth, and impaired communication and social interaction. The diagnosis of Rett syndrome is typically based on clinical features and confirmed through genetic testing. There is no specific “Rett syndrome detection test” available, but the following steps are usually involved in the diagnostic process: 1. Medical history and physical examination: The doctor will review the child’s medical history, including developmental milestones, and perform a physical examination to assess growth, neurological function, and any specific features associated with Rett syndrome. 2. Developmental assessment: The child’s developmental skills and regression patterns will be evaluated, including motor skills, language, social interaction, and cognitive abilities. 3. Genetic testing: A genetic test is usually performed to confirm the diagnosis. The most common genetic mutation associated with Rett syndrome is a mutation in the MECP2 gene, which can be detected through a blood or saliva sample. In some cases, other genetic tests may be necessary to rule out other conditions that may present with similar symptoms. 4. Differential diagnosis: The doctor will consider other conditions that may have similar symptoms to Rett syndrome, such as autism spectrum disorder, cerebral palsy, or other genetic disorders. This is important to ensure an accurate diagnosis and appropriate management. It is important to note that Rett syndrome can be challenging to diagnose, especially in its early stages, as some symptoms may overlap with other conditions. Therefore, a comprehensive evaluation by a team of healthcare professionals, including neurologists, geneticists, and developmental specialists, is often necessary for an accurate diagnosis. |