SCA-6 SPINOCEREBELLAR ATAXIA CACNA1A GENE MUTATION Test
Welcome to DNA Labs UAE, where we offer the SCA-6 SPINOCEREBELLAR ATAXIA CACNA1A GENE MUTATION Test. This genetic test is designed to detect mutations in the CACNA1A gene, which is associated with Spinocerebellar Ataxia type 6 (SCA-6).
Test Details
The SCA-6 test is a genetic test that detects mutations in the CACNA1A gene, which is associated with Spinocerebellar Ataxia type 6 (SCA-6). SCA-6 is a hereditary neurological disorder characterized by progressive problems with coordination and balance.
The CACNA1A gene provides instructions for making a protein called the alpha-1A subunit of the calcium channel. This protein is essential for the normal functioning of neurons in the brain, including those in the cerebellum, which is responsible for coordinating movement. A mutation in the CACNA1A gene disrupts the normal function of the alpha-1A subunit, leading to the development of SCA-6.
Test Components
- CACNA1A 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
Sample to be submitted by Tuesday 11 am; Report will be delivered on Saturday.
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 Process
The test for SCA-6 involves analyzing a person’s DNA to identify any mutations in the CACNA1A gene. This genetic test can help confirm a diagnosis of SCA-6 in individuals with symptoms of the condition and a family history of the disorder. It can also be used for carrier testing in individuals with a family history of SCA-6 who may be at risk of passing the mutation on to their children.
It is important to note that the SCA-6 test is a specialized genetic test that requires a healthcare professional’s order and can be performed in a specialized genetic testing laboratory. Genetic counseling is recommended before and after the test to discuss the implications of the results and any further steps that may be necessary.
Test Name | SCA-6 SPINOCEREBELLAR ATAXIA CACNA1A GENE MUTATION Test |
---|---|
Components | *CACNA1A 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 | Sample Tue by 11 am; Report Sat |
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-6 test is a genetic test that detects mutations in the CACNA1A gene, which is associated with Spinocerebellar Ataxia type 6 (SCA-6). SCA-6 is a hereditary neurological disorder characterized by progressive problems with coordination and balance. The CACNA1A gene provides instructions for making a protein called the alpha-1A subunit of the calcium channel. This protein is essential for the normal functioning of neurons in the brain, including those in the cerebellum, which is responsible for coordinating movement. A mutation in the CACNA1A gene disrupts the normal function of the alpha-1A subunit, leading to the development of SCA-6. The test for SCA-6 involves analyzing a person’s DNA to identify any mutations in the CACNA1A gene. This genetic test can help confirm a diagnosis of SCA-6 in individuals with symptoms of the condition and a family history of the disorder. It can also be used for carrier testing in individuals with a family history of SCA-6 who may be at risk of passing the mutation on to their children. It is important to note that the SCA-6 test is a specialized genetic test that requires a healthcare professional’s order and can be performed in a specialized genetic testing laboratory. Genetic counseling is recommended before and after the test to discuss the implications of the results and any further steps that may be necessary. |