Usher Syndrome Panel

Usher Syndrome Panel

  • Usher syndrome is a condition characterized by hearing loss or deafness and progressive vision loss. The vision loss is due to retinitis pigmentosa (RP), a degenerative condition of the retina, and usually appears during adolescence or early adulthood (1). These disorders are divided into three clinical classes and are differentiated by the severity and progression of both the hearing loss and visual impairment and by the absence or presence of vestibular symptoms. Usher syndrome is responsible for 3 to 6 percent of all childhood deafness and about 50 percent of deaf-blindness in adults with more than 400,000 people affected worldwide (2). The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision (1). Usher syndrome is passed from parents to their offspring through an autosomal recessive inheritance pattern (3).
  • Genes (20): ABHD12, ADGRV1, CDH23, CIB2, CLRN1, COL4A6, DFNB31, DSPP, GIPC3, GJB2, GJB6, GPR98, HARS, KARS, LHFPL5, LOXHD1, MYO7A, PCDH15, PDZD7, TNC, USH1C, USH1E, USH1G, USH1H, USH1K, USH2A, and WHRN
    Test Code: 6121
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Usher Syndrome 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: 81404×2, 81407×3, 81408×2, 81479×13
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests:
    Hearing Loss Panel
  • References:
    1. http://www.blindness.org/usher-syndrome
    2. http://www.usher-syndrome.org/
    3. http://ghr.nlm.nih.gov/condition/usher-syndrome#inheritance

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