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SCA-3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test

590 د.إ

-9%

The SCA-3 Spinocerebellar Ataxia ATXN3 Gene Mutation Test is a specialized genetic test designed to identify mutations in the ATXN3 gene, which are known to cause Spinocerebellar Ataxia Type 3 (SCA-3). SCA-3, also known as Machado-Joseph Disease, is a progressive neurodegenerative disorder characterized by a variety of symptoms including coordination and balance difficulties, spasticity, and eye movement abnormalities. The condition is inherited in an autosomal dominant manner, meaning that having a mutation in just one of the two copies of the ATXN3 gene is enough to cause the disorder.

This test is crucial for individuals with a family history of SCA-3 or those exhibiting symptoms suggestive of the condition, as it can provide a definitive diagnosis. Moreover, it can also be used for predictive testing in asymptomatic family members to determine their risk of developing the condition in the future.

The SCA-3 test is available at DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. The cost of the test is 590 AED, making it an accessible option for those seeking to understand their genetic health or risk of inheriting SCA-3. DNA Labs UAE employs state-of-the-art technology and highly qualified professionals to ensure accurate and reliable test results, providing individuals and families with the information needed to make informed health decisions.

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  • This test is not intended for medical diagnosis or treatment
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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.