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Genetic Testing: Unraveling the Code Within

1. Autoimmune Neurological Disorders and Genetic Insights

  • Paraneoplastic Neurological Syndromes (PNS):

    • Description: PNS are immune-mediated consequences of a remote cancer. They occur when the immune system mistakenly targets neuronal antigens expressed by the tumor.
    • Antibodies: Classic “onconeuronal” antibodies target intracellular antigens but cannot access them across intact cell membranes.
    • Cell-Surface Antibodies: Emerging autoantibodies target cell surface epitopes and directly affect both central and peripheral nervous systems.
    • Clinical Relevance: The clinical syndrome, serological markers, and oncological features guide management decisions.
    • Treatment: Immunotherapies tailored to the specific antibody profile1.
  • Genetic Insights into Autoimmunity:

2. Cancer Genetics and Personalized Approaches

  • Diagnostic Testing:

    • Genetic tests confirm or rule out specific genetic disorders associated with cancer.
    • Examples: BRCA1/BRCA2 testing for breast cancer risk.
  • Predictive Testing:

    • Assessing genetic risk factors for developing cancer.
    • Personalized prevention strategies based on genetic markers.
  • Pharmacogenetics:

    • Tailoring medication choices based on genetic responses.
    • Examples: Warfarin dosing based on genetic variants.
  • Whole Genome Sequencing (WGS):

    • Analyzing an individual’s entire genome.
    • Detecting rare variants and guiding personalized medicine.
  • Ethical Considerations:

    • Privacy protection for genetic data.
    • Informed consent and psychosocial impact.

3. The Promise of Neurogenetics and Oncogenomics

  • Neurogenetics:

    • Using genome sequencing to understand brain and nerve disorders.
    • Pinpointing genetic factors behind inherited diseases.
  • Oncogenomics:

    • Studying cancer genomes to identify driver mutations.
    • Precision oncology for targeted therapies.

Genetics Tests we have now-

Clinical Exome Sequencing | Whole Exome Sequencing | Whole Genome Sequencing | Genome Signature Panel | Comprehensive Hereditary Cancer Panel