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SCA-6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test

590 د.إ

-9%

The SCA-6 Spinocerebellar Ataxia CACNA1A Gene Mutation Test is a specialized diagnostic procedure offered by DNA Labs UAE, aimed at detecting mutations in the CACNA1A gene, which are associated with Spinocerebellar Ataxia Type 6 (SCA-6). SCA-6 is a genetic neurological disorder characterized by progressive loss of coordination, gait abnormalities, and speech difficulties, among other symptoms. This condition is inherited in an autosomal dominant manner, meaning a mutation in just one of the two copies of the gene can cause the disorder.

The test is crucial for individuals with a family history of SCA-6 or those showing symptoms of the condition, as it helps in confirming the diagnosis, enabling early intervention and management of the disease. It involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory to identify any mutations in the CACNA1A gene.

DNA Labs UAE offers this test at a cost of 590 AED. By providing this service, DNA Labs UAE contributes significantly to the early detection and management of Spinocerebellar Ataxia Type 6, thereby improving the quality of life for affected individuals and their families.

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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.