Specimens collected at postmortem exam are essential for identifying a fatal inherited metabolic disorder. Appropriate testing of the specimens should be done in consultation with a clinical chemist familiar with these disorders.
Body fluids to be frozen at -80°C:
(1) plasma
(2) buffy coat from EDTA-anticoagulated blood
(3) urine
(4) CSF
(5) vitreous fluid
Body fluids to be collected on filter paper cards:
(1) whole blood
Tissue samples in small pieces to freeze at -80°C and to submit for histology:
(1) liver
(2) skeletal muscle
(3) other (brain, heart, kidney)
Tissue samples to be placed in transport media for tissue culture:
(1) fresh and unfixed skin for fibroblasts
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