Symptoms and Testing information for SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test

Symptoms and Testing information for SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test

DNA Labs UAE is at the forefront of genetic testing and diagnostics, offering a wide range of services to help individuals understand their genetic makeup and the implications it may have on their health. One of the specialized tests offered by DNA Labs UAE is the SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test. This test is crucial for individuals who may be at risk of developing Spinocerebellar Ataxia Type 5 (SCA5), a rare, hereditary neurodegenerative disorder that affects the cerebellum, leading to progressive coordination and movement problems.

Symptoms of SPTBN2 Gene Spinocerebellar Ataxia Type 5

SCA5 is characterized by a variety of symptoms that can vary significantly in severity and onset among affected individuals. Common symptoms include:

  • Difficulty with coordination and balance (ataxia)
  • Slurred speech (dysarthria)
  • Slow eye movements
  • Difficulty swallowing (dysphagia)
  • Tremors
  • Muscle stiffness (spasticity)
  • Loss of fine motor skills, affecting activities such as writing

These symptoms typically begin in adulthood but can start at any time from childhood to late adulthood. The progression of the disease is slow, and while it can significantly impact an individual’s quality of life, it does not typically affect life expectancy.

Importance of Genetic Testing for SCA5

Genetic testing for SCA5 through the SPTBN2 gene test is crucial for individuals with a family history of the disorder or those experiencing symptoms. The test can provide definitive diagnosis, helping in the management and treatment of the condition. It also offers the opportunity for at-risk family members to understand their risk of developing the disease.

Understanding the Test

The SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test is a comprehensive test that looks for mutations in the SPTBN2 gene, which have been linked to the development of SCA5. The test is conducted through a simple blood sample, making it a non-invasive procedure.

Test Cost

The cost of the SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test at DNA Labs UAE is 4400 AED. This price includes the cost of the sample collection, analysis, and a comprehensive report of the findings. The test is available at DNA Labs UAE.

Conclusion

Spinocerebellar Ataxia Type 5 is a challenging condition, but with advances in genetic testing, individuals at risk or experiencing symptoms can take significant steps towards managing the disease. The SPTBN2 Gene Spinocerebellar Ataxia Type 5 Autosomal Dominant Genetic Test offered by DNA Labs UAE provides a valuable tool for diagnosis and familial risk assessment, contributing to better outcomes for affected individuals and their families.

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