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SCA-11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test

1,290 د.إ

-10%

The SCA-11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test is a specialized genetic test designed to detect mutations in the TTBK2 gene, which are associated with Spinocerebellar Ataxia Type 11 (SCA-11). SCA-11 is a rare, autosomal dominant neurological disorder characterized by progressive ataxia, affecting coordination and balance due to cerebellar degeneration. The TTBK2 gene plays a crucial role in brain development and function, and mutations in this gene can lead to the onset of SCA-11 symptoms, including difficulties with movement and coordination, speech problems, and involuntary eye movements.

Performed at DNA Labs UAE, a leading provider of genetic testing services, this test is essential for individuals with a family history of SCA-11 or those experiencing symptoms suggestive of spinocerebellar ataxias. By identifying the presence of TTBK2 gene mutations, the test aids in the accurate diagnosis of SCA-11, enabling healthcare professionals to offer appropriate genetic counseling and consider potential treatment or management strategies for affected individuals.

The cost of the SCA-11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test is 1290 AED. Given the complexity and the specialized nature of this test, it represents a crucial investment in personal health for those at risk of this genetic condition, facilitating early detection and the possibility of better managing the disorder’s progression.

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SCA-11 SPINOCEREBELLAR ATAXIA TTBK2 GENE MUTATION Test

Test Name: SCA-11 SPINOCEREBELLAR ATAXIA TTBK2 GENE MUTATION Test

Components: TTBK2 Gene

Price: 1290.0 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, Sequencing

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-11 (Spinocerebellar Ataxia) test is a genetic test used to detect mutations in the TTBK2 gene. Spinocerebellar ataxia refers to a group of genetic disorders that affect the cerebellum, leading to problems with movement and coordination.

The TTBK2 gene provides instructions for producing a protein called tau tubulin kinase 2. This protein is involved in regulating the stability and function of microtubules, which are essential for cell structure and transportation within cells. Mutations in the TTBK2 gene can disrupt the normal functioning of the protein, leading to the development of SCA-11.

The SCA-11 test involves analyzing a person’s DNA to identify any mutations or changes in the TTBK2 gene. This can be done using various techniques, such as DNA sequencing or targeted mutation analysis.

The test can help confirm a diagnosis of SCA-11 in individuals showing symptoms of the disorder and can also be used for genetic counseling and family planning purposes.

It is important to note that the SCA-11 test is specific to detecting mutations in the TTBK2 gene and is not a comprehensive test for all types of spinocerebellar ataxia. Different types of ataxia may be caused by mutations in other genes. Therefore, if a person shows symptoms of spinocerebellar ataxia but tests negative for the TTBK2 gene mutation, further genetic testing may be necessary to identify the underlying cause.

Test Name SCA-11 SPINOCEREBELLAR ATAXIA TTBK2 GENE MUTATION Test
Components *TTBK2 Gene
Price 1290.0 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, Sequencing
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-11 (Spinocerebellar Ataxia) test is a genetic test used to detect mutations in the TTBK2 gene. Spinocerebellar ataxia refers to a group of genetic disorders that affect the cerebellum, leading to problems with movement and coordination.

The TTBK2 gene provides instructions for producing a protein called tau tubulin kinase 2. This protein is involved in regulating the stability and function of microtubules, which are essential for cell structure and transportation within cells. Mutations in the TTBK2 gene can disrupt the normal functioning of the protein, leading to the development of SCA-11.

The SCA-11 test involves analyzing a person’s DNA to identify any mutations or changes in the TTBK2 gene. This can be done using various techniques, such as DNA sequencing or targeted mutation analysis. The test can help confirm a diagnosis of SCA-11 in individuals showing symptoms of the disorder and can also be used for genetic counseling and family planning purposes.

It is important to note that the SCA-11 test is specific to detecting mutations in the TTBK2 gene and is not a comprehensive test for all types of spinocerebellar ataxia. Different types of ataxia may be caused by mutations in other genes. Therefore, if a person shows symptoms of spinocerebellar ataxia but tests negative for the TTBK2 gene mutation, further genetic testing may be necessary to identify the underlying cause.

SKU: TEST-5510 Category:

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