Dystonia Dyskinesia Panel

Dystonia Dyskinesia Panel

  • Dystonia is a prolonged contraction in a particular muscle or increase muscle tone that results in abnormal posturing or a muscle spasm. This can lead to a contortion of the body part in a painful manner and is quite debilitating. Dyskinesia is a rhythmic contraction of large muscle groups that are often times described as a rolling or writhing motion (1). Individuals affected usually begin to show signs and symptoms during childhood or adolescence. The condition is estimated to occur in 1 in 150,000 individuals and affects more males than females. Mutations in genes that are thought to be involved in the development and function of the brain and protein that control signaling between nerve cells are the cause of some of the disorder (2). Genetic testing is recommended to assess the risk of affected individuals and their family members.
  • Genes (14): ATP1A3, DRD2, DRD5, MR1, PNKD, PRKRA, PRRT2, SCP2, SGCE, SLC6A3, SPR, TAF1, THAP1, and TOR1A
    Test Code: 5041
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Dystonia Dyskinesia Panel
    Requisition: Cancer Test Requisition Form
    Requisition: Contact ApolloGen Diagnostic Laboratory
  • Turn-Around Time: 4 Weeks
    Preferred Specimen: 3-5 mL Whole Blood – Lavender Top Tube
    Other Specimens: See details here
  • CPT Codes: 81404×2, 81405×1, 81479×11
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Neuromuscular Panel
  • References:
    1. https://www.verywell.com/dystonia-vs-dyskinesia-2612238
    2. https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia

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