SCA-12 SPINOCEREBELLAR ATAXIA PPP2R2B GENE MUTATION Test
At DNA Labs UAE, we offer the SCA-12 SPINOCEREBELLAR ATAXIA PPP2R2B GENE MUTATION Test at a cost of AED 590.0. This test is designed to detect mutations in the PPP2R2B gene, which is associated with Spinocerebellar Ataxia type 12 (SCA-12).
Test Components
- PPP2R2B Gene
Price
AED 590.0
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
10-12 days
Method
PCR, Fragment Analysis
Test Type
Neurologic Disorder-Ataxia
Doctor
Neurologist
Test Department
MOLECULAR DIAGNOSTICS
Pre Test Information
Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.
Test Details
The SCA-12 test is a genetic test that detects mutations in the PPP2R2B gene, which is associated with Spinocerebellar Ataxia type 12 (SCA-12). SCA-12 is a rare genetic disorder that affects the cerebellum, leading to progressive problems with movement and coordination.
The PPP2R2B gene provides instructions for making a protein called protein phosphatase 2 regulatory subunit B beta. This protein is involved in regulating the activity of other proteins in the brain, including those involved in the function of the cerebellum. A mutation in the PPP2R2B gene can disrupt the normal functioning of the protein, leading to the development of SCA-12.
The SCA-12 test can identify these mutations by analyzing a person’s DNA sample, usually obtained through a blood sample. The test can be ordered by a healthcare provider if a person is showing symptoms of SCA-12 or has a family history of the condition. It can help confirm a diagnosis and provide information about the genetic cause of the disease.
It is important to note that SCA-12 is a rare genetic disorder, and not all cases are caused by mutations in the PPP2R2B gene. Therefore, a negative test result does not necessarily rule out the possibility of SCA-12. Genetic counseling is recommended to understand the implications of the test results and discuss any further steps or management options.
Test Name | SCA-12 SPINOCEREBELLAR ATAXIA PPP2R2B GENE MUTATION Test |
---|---|
Components | *PPP2R2B Gene |
Price | 590.0 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 | 10-12 days |
Method | PCR, Fragment Analysis |
Test type | Neurologic Disorder-Ataxia |
Doctor | Neurologist |
Test Department: | MOLECULAR DIAGNOSTICS |
Pre Test Information | Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory. |
Test Details |
The SCA-12 test is a genetic test that detects mutations in the PPP2R2B gene, which is associated with Spinocerebellar Ataxia type 12 (SCA-12). SCA-12 is a rare genetic disorder that affects the cerebellum, leading to progressive problems with movement and coordination. The PPP2R2B gene provides instructions for making a protein called protein phosphatase 2 regulatory subunit B beta. This protein is involved in regulating the activity of other proteins in the brain, including those involved in the function of the cerebellum. A mutation in the PPP2R2B gene can disrupt the normal functioning of the protein, leading to the development of SCA-12. The SCA-12 test can identify these mutations by analyzing a person’s DNA sample, usually obtained through a blood sample. The test can be ordered by a healthcare provider if a person is showing symptoms of SCA-12 or has a family history of the condition. It can help confirm a diagnosis and provide information about the genetic cause of the disease. It is important to note that SCA-12 is a rare genetic disorder, and not all cases are caused by mutations in the PPP2R2B gene. Therefore, a negative test result does not necessarily rule out the possibility of SCA-12. Genetic counseling is recommended to understand the implications of the test results and discuss any further steps or management options. |