Spinocerebellar Ataxia Panel

Spinocerebellar Ataxia (SCA) Panel

Mapmygenome offers a disease-specific panel for Spinocerebellar Ataxia (SCA), which is designed to help diagnose this group of genetic disorders that primarily affect the cerebellum, leading to problems with coordination and balance. Here’s a detailed overview of what this panel typically includes:

Spinocerebellar Ataxia (SCA) Panel Overview:

  1. Purpose:

    • Diagnosis: The panel aims to identify genetic mutations associated with various types of Spinocerebellar Ataxia, which can help confirm a diagnosis in individuals showing symptoms of ataxia.
    • Genetic Understanding: Helps in understanding the specific type of SCA, as there are several different forms, each associated with mutations in different genes.

  2. Genes Tested:

    • The panel generally covers multiple genes associated with different types of SCA. Common genes included in the panel might be:
      • SCA1: ATXN1 gene
      • SCA2: ATXN2 gene
      • SCA3: ATXN3 gene
      • SCA6: CACNA1A gene
      • SCA7: ATXN7 gene
      • SCA17: TBP gene
      • Other SCAs: Depending on the panel, additional genes related to less common forms of SCA might also be tested.

  3. Test Procedure:

    • Sample Collection: Typically involves a blood or saliva sample.
    • Genetic Analysis: The sample is analyzed for mutations in the genes associated with SCA. This may involve sequencing or other techniques to identify specific genetic changes.

  4. Interpreting Results:

    • Positive Result: Indicates the presence of mutations associated with a specific type of SCA. This can confirm a diagnosis and provide information about the potential progression and management of the disease.
    • Negative Result: Indicates no mutations were found in the tested genes. This does not rule out the presence of ataxia, as other, less common genetic causes may be involved.
    • Variants of Unknown Significance: Sometimes, the results may show changes in the gene that are not yet fully understood. Genetic counseling can help interpret these results.

  5. Genetic Counseling:

    • Pre-Test Counseling: Helps individuals understand the potential outcomes of the test and the implications of the results.
    • Post-Test Counseling: Provides guidance on interpreting the results and discussing possible next steps, including treatment options or support resources.

  6. Next Steps:

    • Consult a Genetic Counselor: Before taking the test, a genetic counselor can help you understand whether the panel is appropriate based on your symptoms and family history.
    • Testing: Follow the process for sample collection and submission as directed.
    • Follow-Up: Discuss the results with a healthcare provider or genetic counselor to understand the implications for your health and any recommended management strategies.

 

Quick Product Overview

https://open.spotify.com/episode/6GDmDEz3jzmCWsIVfxwwdD?si=pg9ka5pXQvqDM2El6bOTUQ

 

FAQs