Spastic Paraplegia Panel

Spastic Paraplegia Panel

  • Spastic paraplegia is caused by degeneration of the upper motor neurons, preventing impulses from adequately reaching the lower motor neurons, and their messages to the corresponding muscles to be impaired (1). This leads to slowly progressive weakness and increased muscle tone and stiffness of leg muscles. Hereditary spastic paraplegia (HSP) encompasses a wide variety of disorders that are highly variable even among members of the same family (2). Early in the disease course there may be mild gait difficulties and stiffness with a slow progression that may lead to the necessary aid of a cane, walker, or wheel chair. Hereditary spastic paraplegia has several forms of inheritance. Not all carriers will necessarily develop symptoms but they may pass it on to their offspring thus making genetic testing an important factor in determining risk for other family members (3).
  • Genes (59): ABCD1, ACOX1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ARG1, ARSA, ATL1, B4GALNT1, BSCL2, BTD, C12orf65, C19orf12, CCT5, CYP7B1, DDHD1, DDHD2, ENTPD1, ERLIN2, FA2H, GALC, GBA2, GBE1, GCH1, GJC2, HSPD1, KDM5C, KIAA0196, KIF1A, KIF5A, L1CAM, MMACHC, MTHFR, NIPA1, OPA3, PLP1, PNPLA6, PTS, REEP1, RTN2, SACS, SLC16A2, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, SPR, TECPR2, TFG, TH, VAMP1, VPS37A, ZFYVE26, and ZFYVE27
    Test Code: 5091
    Clinical Indications:
    • Molecular confirmation of a clinical diagnosis in symptomatic patients.
    • Assessment for at-risk family members
    Test Info Sheet: Spastic Paraplegia 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: 81291×1, 81404×2, 81405×7, 81406×5, 81407×4, 81479×40
    Pricing: Please contact us at (949) 916-8886 or inquiries@apollogen.com
  • Methodology: Next-Generation Sequencing (NGS)
    Related Tests: None
  • References:
    1. http://sp-foundation.org/understanding-pls-hsp/overview.html
    2. http://rarediseases.org/rare-diseases/hereditary-spastic-paraplegia/
    3. http://www.ninds.nih.gov/disorders/hereditary_spastic_paraplegia/hereditary_spastic_paraplegia.htm

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