Specimen
|
Sampling details
|
Plasma | 3–5 ml lithium heparin sample, plasma separated and frozen |
Whole blood for DNA analysis | 3–5 ml EDTA sample kept refrigerated (should not be frozen) (other whole blood samples can also be used) |
Blood spot for acylcarnitine analysis | 2–3 spots on filter paper or Guthrie card |
Urine | Frozen in a plain sterile container |
Skin biopsy for fibroblast culture | Collected using aseptic technique, stored in a skin biopsy medium (if this is not available, viral culture medium or normal saline in a sterile container may be used) (should not be frozen) |
Muscle biopsy | 1 cm3 piece immediately frozen in liquid nitrogen or dry ice for enzymology, histology, and DNA analysis; one piece preserved in gluteraldehyde for electron microscopy |
Liver biopsy | 1 cm3 piece immediately frozen in liquid nitrogen or dry ice for enzymology, histology, and DNA analysis; one piece preserved in gluteraldehyde for electron microscopy |