Spinocerebellar Ataxia Panel (SCA 1, 2, 3, 6, 7, 12, 17)

Spinocerebellar Ataxia Panel measures specific genetic markers associated with different types of autosomal dominant ataxias, including SCA1, SCA2, SCA3, SCA6, SCA7, SCA12, and SCA17. The test identifies mutations in these genes and helps diagnose and assess the risk of developing spinocerebellar ataxia in symptomatic and presymptomatic individuals.

Spinocerebellar Ataxia Panel is primarily done for two reasons:

• To confirm a clinical diagnosis in individuals showing symptoms of spinocerebellar ataxia.
• To provide presymptomatic testing for adults who have a family history of spinocerebellar ataxia. This helps assess their risk of developing the condition and allows for early intervention or lifestyle modifications.

• Recommended for individuals showing symptoms like unsteady gait, poor coordination, slurred speech, or tremors linked to spinocerebellar ataxia.
• Suitable for adults with a family history of spinocerebellar ataxia, offering risk assessment for potential development of the condition.

An abnormal result from the Spinocerebellar Ataxia Panel may indicate the presence of a genetic mutation related to spinocerebellar ataxia. Further evaluation by a healthcare professional, including a detailed clinical assessment and additional diagnostic tests, is necessary for accurate diagnosis and appropriate management.

During the test:

• A healthcare professional will collect blood sample
• The sample will be sent to a laboratory where PCR fragment analysis will be performed to detect genetic mutations associated with spinocerebellar ataxias
• The test report will be available on the 7th day

• Provide your complete clinical and family history.
• Make sure you have the contact information of your referring clinician.
• No specific dietary or lifestyle preparations are required before this test.
• Reach out to your healthcare provider for any specific requirements.

• Neurological examination: A thorough clinical assessment by a neurologist to evaluate symptoms and neurological function
• Imaging tests (MRI or CT scan): To assess any structural abnormalities in the brain
• Genetic counselling: To discuss the implications of test results and provide guidance on managing the condition

SCA 1, 2, 3, 6, 7, 12, and 17 genetic panel

Spinocerebellar ataxia refers to a group of inherited neurodegenerative disorders that primarily affect coordination and balance due to the degeneration of certain parts of the cerebellum and spinal cord. These disorders are characterised by progressive loss of motor control and can lead to significant disability.