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. |
