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SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The SPTBN2 gene plays a crucial role in the proper functioning of the cerebellum, a part of the brain that coordinates movement and balance. Mutations in the SPTBN2 gene are associated with Spinocerebellar Ataxia Type 5 (SCA5), a rare, inherited neurological disorder characterized by progressive problems with movement and coordination. This condition is autosomal dominant, meaning that a mutation in just one of the two copies of the gene is sufficient to cause the disorder.

To diagnose SCA5, genetic testing is performed to identify mutations in the SPTBN2 gene. DNA Labs UAE offers a comprehensive genetic test specifically designed to detect these mutations. The test is crucial for individuals with a family history of SCA5 or those exhibiting symptoms related to the condition, such as difficulty with coordination and balance, to confirm the diagnosis and understand their genetic status.

The cost of the SPTBN2 gene test at DNA Labs UAE is 4400 AED. This investment provides individuals and their healthcare providers with essential information that can guide management and treatment options, as well as inform family planning decisions. Early diagnosis through genetic testing can significantly impact the quality of life for those with SCA5 and their families by enabling timely interventions and support.

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SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test

Test Details

Spinocerebellar ataxia type 5 (SCA5) is a rare genetic disorder that affects the cerebellum and spinal cord. It is an autosomal dominant condition, meaning that an individual only needs to inherit one copy of the mutated gene from either parent to develop the disease. The SPTBN2 gene is associated with SCA5. Mutations in this gene result in the production of an abnormal beta-III spectrin protein, which disrupts the normal functioning of neurons in the cerebellum and spinal cord.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, allowing for a comprehensive evaluation of an individual’s genetic makeup. In the context of SCA5, NGS genetic testing can be used to identify mutations in the SPTBN2 gene, providing a diagnosis for individuals suspected of having the condition. The test involves obtaining a DNA sample, typically through a blood or saliva sample, and sequencing the DNA to identify any mutations or variations in the SPTBN2 gene.

The results of the test can help confirm a diagnosis of SCA5 and provide valuable information for genetic counseling and management of the condition. It’s important to note that genetic testing for SCA5 is typically only recommended for individuals who have symptoms consistent with the condition or have a family history of SCA5. Genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.

Test Name: SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test

Components

  • Price: 4400.0 AED

Sample Condition

  • Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery

  • 3 to 4 Weeks

Method

  • NGS Technology

Test Type

  • Neurological Disorders

Doctor

  • Neurologist

Test Department

  • Genetics

Pre Test Information

Clinical History of Patient who is going for SPTBN2 Gene Spinocerebellar Ataxia Type 5, autosomal dominant NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with SPTBN2 Gene Spinocerebellar Ataxia Type 5, autosomal dominant

Test Name SPTBN2 Gene Spinocerebellar ataxia type 5 autosomal dominant Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SPTBN2 Gene Spinocerebellar ataxia type 5, autosomal dominant
Test Details

Spinocerebellar ataxia type 5 (SCA5) is a rare genetic disorder that affects the cerebellum and spinal cord. It is an autosomal dominant condition, meaning that an individual only needs to inherit one copy of the mutated gene from either parent to develop the disease.

The SPTBN2 gene is associated with SCA5. Mutations in this gene result in the production of an abnormal beta-III spectrin protein, which disrupts the normal functioning of neurons in the cerebellum and spinal cord.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously, allowing for a comprehensive evaluation of an individual’s genetic makeup. In the context of SCA5, NGS genetic testing can be used to identify mutations in the SPTBN2 gene, providing a diagnosis for individuals suspected of having the condition.

The test involves obtaining a DNA sample, typically through a blood or saliva sample, and sequencing the DNA to identify any mutations or variations in the SPTBN2 gene. The results of the test can help confirm a diagnosis of SCA5 and provide valuable information for genetic counseling and management of the condition.

It’s important to note that genetic testing for SCA5 is typically only recommended for individuals who have symptoms consistent with the condition or have a family history of SCA5. Genetic testing should be done under the guidance of a healthcare professional or genetic counselor who can provide appropriate counseling and interpretation of the results.

SKU: TEST-2077 Category:

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