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Notes
| Tissue biopsy/autopsy samples must be stored at -70°C (-20°C is inadequate) until transport on dry ice. Once frozen, they must not be allowed to thaw. Postmortem Samples: COLLECT AS SOON AFTER DEATH AS POSSIBLE, preferably within 2 hours. Note the time between death and freezing of samples. Tissue samples should be no larger than 1.0 cm cubes; heart, kidney & brain samples may also be collected. Enzymes can be assayed in postmortem heart but endomyocardial microbiopsies are too small. Cultured cells should be sent at room temperature and must not be allowed to freeze. OTHER INFORMATION NEEDED FOR RELIABLE INTERPRETATION: - Patient name, medical record no., date of birth, date of sample, delay between death and freezing if relevant
- Paired plasma lactate & pyruvate levels; multiple estimations preferred.
- Paired CSF lactate & pyruvate levels, preferably with blood levels obtained at about the same time.
- Full clinical summary and family history with pedigree.
- Copies of relevant investigations, as appropriate, including:
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