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SCA-17 Spinocerebellar Ataxia TBP Gene Mutation Test

700 د.إ

-10%

The SCA-17 Spinocerebellar Ataxia TBP Gene Mutation Test is a specialized genetic test designed to identify mutations in the TBP gene, which are linked to Spinocerebellar Ataxia Type 17 (SCA-17). SCA-17 is a progressive neurodegenerative disorder characterized by coordination and movement problems, cognitive impairment, and psychiatric symptoms. The condition is inherited in an autosomal dominant manner, meaning that a mutation in just one copy of the TBP gene is sufficient to cause the disorder.

This test is crucial for individuals with a family history of SCA-17 or those exhibiting symptoms of the disease, as it helps in confirming the diagnosis. Early identification of the mutation can aid in managing the symptoms, planning for the future, and genetic counseling for affected families.

The test is available at DNA Labs UAE, a leading facility in genetic testing and analysis. The cost of the SCA-17 Spinocerebellar Ataxia TBP Gene Mutation Test is 700 AED. DNA Labs UAE employs state-of-the-art technology and highly skilled professionals to ensure accurate and reliable test results, providing crucial information for patients and their families regarding this genetic condition.

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SCA-17 SPINOCEREBELLAR ATAXIA TBP GENE MUTATION Test

Welcome to DNA Labs UAE, where we offer the SCA-17 SPINOCEREBELLAR ATAXIA TBP GENE MUTATION Test. This genetic test specifically looks for mutations in the TBP gene.

Test Details

The SCA-17 (Spinocerebellar Ataxia) test is a genetic test that specifically looks for mutations in the TBP gene. SCA-17 is a rare genetic disorder that affects the nervous system, specifically the cerebellum, leading to progressive loss of coordination and balance.

The TBP gene provides instructions for making a protein called TATA-binding protein, which is involved in the regulation of gene expression. Mutations in the TBP gene can disrupt the normal functioning of the protein, leading to the development of SCA-17.

The SCA-17 test typically involves analyzing a sample of blood or saliva to identify any mutations or variations in the TBP gene. This can help in confirming a diagnosis of SCA-17 and determining the specific genetic cause of the condition.

It is important to note that SCA-17 is an inherited condition, and individuals with a family history of the disorder may be more likely to develop it. Genetic testing can also be used to determine if individuals are carriers of the TBP gene mutation, which can be helpful for family planning and genetic counseling purposes.

Test Components

  • TBP Gene

Test Price

The cost of the SCA-17 SPINOCEREBELLAR ATAXIA TBP GENE MUTATION Test is 700.0 AED.

Sample Condition

4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.

Report Delivery

The test results will be delivered within 10-12 days.

Method

The SCA-17 SPINOCEREBELLAR ATAXIA TBP GENE MUTATION Test is performed using PCR (Polymerase Chain Reaction) and Fragment Analysis techniques.

Test Type

This test falls under the category of Neurologic Disorder-Ataxia.

Referring Doctor

This test is typically ordered by a Neurologist.

Test Department

This test is performed in the Molecular Diagnostics department.

Pre Test Information

A duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory before undergoing the test.

Thank you for choosing DNA Labs UAE for your genetic testing needs. If you have any further questions or would like to schedule an appointment, please contact us.

Test Name SCA-17 SPINOCEREBELLAR ATAXIA TBP GENE MUTATION Test
Components *TBP Gene
Price 700.0 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-17 (Spinocerebellar Ataxia) test is a genetic test that specifically looks for mutations in the TBP gene. SCA-17 is a rare genetic disorder that affects the nervous system, specifically the cerebellum, leading to progressive loss of coordination and balance.

The TBP gene provides instructions for making a protein called TATA-binding protein, which is involved in the regulation of gene expression. Mutations in the TBP gene can disrupt the normal functioning of the protein, leading to the development of SCA-17.

The SCA-17 test typically involves analyzing a sample of blood or saliva to identify any mutations or variations in the TBP gene. This can help in confirming a diagnosis of SCA-17 and determining the specific genetic cause of the condition.

It is important to note that SCA-17 is an inherited condition, and individuals with a family history of the disorder may be more likely to develop it. Genetic testing can also be used to determine if individuals are carriers of the TBP gene mutation, which can be helpful for family planning and genetic counseling purposes.