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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