Clinical background:
Requested for the investigation of metabolic causes of severe, early-onset, progressive encephalopathies. Mild variants may present in older children or adults.
Specimen container paediatric:
CSF, placed on dry ice at the bedside
Specimen container adult:
CSF, placed on dry ice at the bedside
Minimum volume paediatric:
2 X 0.5 mL plain tubes 1 X 1 mL special tube
Minimum volume adult:
2 X 0.5 mL plain tubes 1 X 1 mL special tube
Special requirements:
The metabolic laboratory must be informed in advance. They will provide tubes, dry ice and the protocol from the Institute of Neurology which includes a request form.
Transport requirements:
Frozen
Other Info:
Referral Laboratory: Neurometabolic Unit, 6th Floor, Institute of Neurology, Queen Square, London WC1N 3BG