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SCA-12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test

590 د.إ

-9%

The SCA-12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test is a specialized genetic test designed to identify mutations in the PPP2R2B gene, which are associated with Spinocerebellar Ataxia Type 12 (SCA-12). SCA-12 is a progressive, neurodegenerative disorder characterized by tremors, difficulty with movement coordination (ataxia), and other neurological symptoms. This condition is inherited in an autosomal dominant pattern, meaning that a mutation in just one copy of the gene in each cell is sufficient to cause the disorder.

The test is conducted by DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. Utilizing advanced genetic sequencing technologies, the test accurately detects the presence of specific mutations in the PPP2R2B gene that are known to cause SCA-12. This information is crucial for affected individuals and their families for several reasons. It can confirm a diagnosis of SCA-12, inform treatment and management strategies, and provide valuable information for family planning and genetic counseling.

The cost of the SCA-12 Spinocerebellar Ataxia PPP2R2B Gene Mutation Test at DNA Labs UAE is 590 AED. Given the specialized nature of this test and its importance in the diagnosis and management of SCA-12, it represents a critical investment in the health and well-being of individuals showing symptoms of or at risk for this condition.

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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.

SKU: TEST-6186 Category:

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