SCA-3 SPINOCEREBELLAR ATAXIA ATXN3 GENE MUTATION Test
At DNA Labs UAE, we offer the SCA-3 SPINOCEREBELLAR ATAXIA ATXN3 GENE MUTATION Test to help diagnose and identify genetic mutations related to this disorder.
Test Details
SCA-3, also known as Spinocerebellar Ataxia type 3, is a genetic disorder characterized by progressive degeneration of the cerebellum and other parts of the nervous system. It is caused by mutations in the ATXN3 gene. The ATXN3 gene provides instructions for making a protein called ataxin-3. In individuals with SCA-3, the gene mutation leads to the production of an abnormal form of ataxin-3. This abnormal protein builds up in cells, particularly in the brain, leading to the progressive damage and dysfunction of nerve cells.
To diagnose SCA-3, a genetic test can be performed to detect mutations in the ATXN3 gene. This test usually involves analyzing a blood or saliva sample to identify any genetic changes or abnormalities in the gene sequence.
The ATXN3 gene mutation test can help confirm a diagnosis of SCA-3 in individuals who exhibit symptoms of the condition. It can also be used for genetic counseling and to identify carriers of the mutation within families.
It is important to note that while the ATXN3 gene mutation test can confirm the presence of the mutation, it cannot predict the exact age of onset or severity of symptoms. The symptoms and progression of SCA-3 can vary widely among affected individuals, even within the same family.
Test Components
- ATXN3 Gene
Test Price
590.0 AED
Sample Condition
4 mL (2 mL min.) whole blood in 1 Lavender top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Report Delivery
Sample to be submitted on Tuesday by 11 am; Report to 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.
Genetic testing for SCA-3 should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and guidance based on the test results.
Test Name | SCA-3 SPINOCEREBELLAR ATAXIA ATXN3 GENE MUTATION Test |
---|---|
Components | *ATXN3 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 |
SCA-3, also known as Spinocerebellar Ataxia type 3, is a genetic disorder characterized by progressive degeneration of the cerebellum and other parts of the nervous system. It is caused by mutations in the ATXN3 gene. The ATXN3 gene provides instructions for making a protein called ataxin-3. In individuals with SCA-3, the gene mutation leads to the production of an abnormal form of ataxin-3. This abnormal protein builds up in cells, particularly in the brain, leading to the progressive damage and dysfunction of nerve cells. To diagnose SCA-3, a genetic test can be performed to detect mutations in the ATXN3 gene. This test usually involves analyzing a blood or saliva sample to identify any genetic changes or abnormalities in the gene sequence. The ATXN3 gene mutation test can help confirm a diagnosis of SCA-3 in individuals who exhibit symptoms of the condition. It can also be used for genetic counseling and to identify carriers of the mutation within families. It is important to note that while the ATXN3 gene mutation test can confirm the presence of the mutation, it cannot predict the exact age of onset or severity of symptoms. The symptoms and progression of SCA-3 can vary widely among affected individuals, even within the same family. Genetic testing for SCA-3 should be performed by a qualified healthcare professional or genetic counselor who can provide appropriate counseling and guidance based on the test results. |