Short Description

Cerebellar ataxia have variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord. Spinocerebellar ataxia-5 (SCA5) is caused by heterozygous mutation in the SPTBN2 gene on chromosome 11q13. This test is specific for SPTBN2 gene hotspot (exon 12) locus.

PreTest Information

Duly filled Genomics Clinical Information Requisition Form (Form 20) is mandatory.

Detail Description

SCA-5 (SPINOCEREBELLAR ATAXIA): SPTBN2 GENE MUTATION Test Cost INR:7500 Symptoms Diagnosis

Spinocerebellar ataxia (SCA) is a genetic disorder that affects the cerebellum, which is the part of the brain responsible for coordinating movement. There are several types of SCA, each caused by a different genetic mutation. SCA-5 is caused by a mutation in the SPTBN2 gene, which produces a protein called beta-III spectrin. This protein is important for the normal function of Purkinje cells, which are the cells in the cerebellum that control movement.

Symptoms of SCA-5

The symptoms of SCA-5 usually begin in adulthood, typically between the ages of 30 and 50. The first symptoms are usually problems with balance and coordination, which can make it difficult to walk or perform other activities that require coordination. As the disease progresses, other symptoms may include:

• Tremors or shaking
• Difficulty speaking or swallowing
• Problems with fine motor skills, such as writing or buttoning clothes
• Memory problems or confusion

Diagnosis of SCA-5

Diagnosing SCA-5 requires a genetic test to confirm the presence of the SPTBN2 gene mutation. This test can be done using a blood sample or a cheek swab. In addition to the genetic test, a doctor may also perform a physical exam and neurological tests to evaluate the patient's symptoms and assess their coordination, balance, and reflexes.

SPTBN2 Gene Mutation Test Cost

The cost of the SPTBN2 gene mutation test for SCA-5 in India is approximately INR 7500. This cost may vary depending on the laboratory or healthcare provider performing the test.

Conclusion

If you or a loved one are experiencing symptoms of SCA-5, it is important to speak with a doctor as soon as possible. Early diagnosis and treatment can help manage symptoms and improve quality of life. DNA Labs India provides affordable and reliable genetic testing services for SCA-5 and other genetic disorders.

For more information or to schedule a genetic test, contact DNA Labs India today.

Cerebellar ataxia have variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord. Spinocerebellar ataxia-5 (SCA5) is caused by heterozygous mutation in the SPTBN2 gene on chromosome 11q13. This test is specific for SPTBN2 gene hotspot (exon 12) locus.