Cerebellar Hypoplasia Panel

Cerebellar Hypoplasia Panel

  • Cerebellar hypoplasia is a neurological condition that affects that development of the cerebellum which controls balance and movement. Individuals with the condition generally have a smaller cerebellum than normal, or one that is not completely developed. Symptoms of the condition include floppy muscle tone, developmental or speech delay, problems with walking and balance, seizures, intellectual disability, and involuntary side to side movements of the eyes (1). Generally, treatments for the condition is symptomatic and supportive, and include therapies that are for physical, speech/language, visual, and behavioral challenges (2). Genetic testing is recommended for individuals affected in order to assess risk for family members and better understand the disease.
  • Genes (17): CASK, CHMP1A, EXOSC3, KCNT1, OPHN1, RARS2, RELN, SEPSECS, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, and VRK1
    Test Code: 5035
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Cerebellar Hypoplasia Panel
    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: 81479×17
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Epilepsy Panel
    Central Hypoventilation Panel
  • References:
    1. http://www.ninds.nih.gov/disorders/cerebellar_hypoplasia/cerebellar_hypoplasia.htm
    2. https://en.wikipedia.org/wiki/Cerebellar_hypoplasia

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