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Some cases come to autopsy with the question of a possible unknown metabolic disorder. It is important to collect sufficient quantity of specimens to permit additional studies at autopsy and in the future should siblings of this patient eventually show similar symptoms.

  1. COLLECT SERUM - 2 RED TOP TUBES AND FREEZE

  2. COLLECT CSF - STERILE, FREEZE (1 tube)

  3. COLLECT FIBROBLASTS FOR CULTURE

  4. TISSUES FOR BULK FREEZING
    A. FRONTAL LOBE (3 vials)
    B. CEREBELLUM (3 vials)
    C. MUSCLE (6 vials, one muscle only)
    D. LIVER (3 vials)

  5. MUSCLE FOR ENZYME HISTOLOGY
    • LONGITUDINAL ORIENTATION (1 muscle only)

  6. ELECTRON MICROSCOPY(automatic embed and hold)
    A. CORTICAL GRAY MATTER OF BRAIN
    B. CEREBRAL WHITE MATTER
    C. MUSCLE
    D. LIVER
    E. SKIN (to catch NCL cases)
Other items may be needed in specific cases, but these should cover most of what is needed.
Updated: 2/2001