Sample acquisition

Sample acquisition and posting

Sample material

Clinically affected tissues should be chosen for all investigations, muscle being particularly suitable. If there is no muscle available, you may also send EDTA-blood (but the diagnostic yield tends to be considerably lower than muscle - this particularly applies to deletions which may not be detected in blood at all despite a high mutation load in muscle!).

Blood

We require 10-20ml EDTA blood (adults), but at least 5ml (infants). The blood may be sent at room temperature by mail (leakage-proof containers!). Please send samples only Monday to Wednesday, so they arrive on Friday at the latest.

Biochemical analyses of the respiratory chain enzymes in platelets are only possible in freshly drawn blood (no transport possible).

Muscle biopsies 

Muscle should be frozen immediately after collection and stored at -80^oC. It should be frozen dry and should not be allowed to thaw at any stage.

We require at least 100mg muscle tissue. The biopsy has to be sent frozen on dry ice (about 1.5kg of dry ice required per day of transport) in a polystyrene box. The biopsy itself should be placed in a pre-cooled plastic container. We recommend transport by courier (24-hour delivery). Please do not send biopsies on a Friday.

Muscle tissue which has been embedded in Tissue Tec or any other embedding material is not suitable for biochemical analysis of the respiratory chain enzymes. 

Skin biopsies (fibroblasts)

Skin biopsies have to be sent in tissue culture medium. Medium and an instruction of how to take the biopsy can be forwarded at request.